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15 results on '"Kruer, M.C."'

1. Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

Author

Zech, M., Kopajtich, R., Steinbrücker, K., Bris, C., Gueguen, N., Feichtinger, R.G., Achleitner, M.T., Duzkale, N., Périvier, M., Koch, J., Engelhardt, H., Freisinger, P., Wagner, M., Brunet, T., Berutti, R., Smirnov, D., Navaratnarajah, T., Rodenburg, R.J.T., Pais, L.S., Austin-Tse, C., O'Leary, M., Boesch, S., Jech, R., Bakhtiari, S., Jin, S.C., Wilbert, F., Kruer, M.C., Wortmann, S.B., Eckenweiler, M., Mayr, J.A., Distelmaier, F., Steinfeld, R., Winkelmann, J., Prokisch, H., Zech, M., Kopajtich, R., Steinbrücker, K., Bris, C., Gueguen, N., Feichtinger, R.G., Achleitner, M.T., Duzkale, N., Périvier, M., Koch, J., Engelhardt, H., Freisinger, P., Wagner, M., Brunet, T., Berutti, R., Smirnov, D., Navaratnarajah, T., Rodenburg, R.J.T., Pais, L.S., Austin-Tse, C., O'Leary, M., Boesch, S., Jech, R., Bakhtiari, S., Jin, S.C., Wilbert, F., Kruer, M.C., Wortmann, S.B., Eckenweiler, M., Mayr, J.A., Distelmaier, F., Steinfeld, R., Winkelmann, J., and Prokisch, H.

Abstract

Item does not contain fulltext, OBJECTIVE: ATP synthase (ATPase) is responsible for the majority of ATP production. Nevertheless, disease phenotypes associated with mutations in ATPase subunits are extremely rare. We aimed at expanding the spectrum of ATPase-related diseases. METHODS: Whole-exome sequencing in cohorts with 2,962 patients diagnosed with mitochondrial disease and/or dystonia and international collaboration were used to identify deleterious variants in ATPase-encoding genes. Findings were complemented by transcriptional and proteomic profiling of patient fibroblasts. ATPase integrity and activity were assayed using cells and tissues from 5 patients. RESULTS: We present 10 total individuals with biallelic or de novo monoallelic variants in nuclear ATPase subunit genes. Three unrelated patients showed the same homozygous missense ATP5F1E mutation (including one published case). An intronic splice-disrupting alteration in compound heterozygosity with a nonsense variant in ATP5PO was found in one patient. Three patients had de novo heterozygous missense variants in ATP5F1A, whereas another 3 were heterozygous for ATP5MC3 de novo missense changes. Bioinformatics methods and populational data supported the variants' pathogenicity. Immunohistochemistry, proteomics, and/or immunoblotting revealed significantly reduced ATPase amounts in association to ATP5F1E and ATP5PO mutations. Diminished activity and/or defective assembly of ATPase was demonstrated by enzymatic assays and/or immunoblotting in patient samples bearing ATP5F1A-p.Arg207His, ATP5MC3-p.Gly79Val, and ATP5MC3-p.Asn106Lys. The associated clinical profiles were heterogeneous, ranging from hypotonia with spontaneous resolution (1/10) to epilepsy with early death (1/10) or variable persistent abnormalities, including movement disorders, developmental delay, intellectual disability, hyperlactatemia, and other neurologic and systemic features. Although potentially reflecting an ascertainment bias, dystonia was common (7/10). INTERPRETA

Published
2022

2. Common data elements to standardize genomics studies in cerebral palsy

Author

Wilson, Y.A., Smithers‐Sheedy, H., Ostojic, K., Waight, E., Kruer, M.C., Fahey, M.C., Baynam, G., Gecz, J., Badawi, N., McIntyre, S., Wilson, Y.A., Smithers‐Sheedy, H., Ostojic, K., Waight, E., Kruer, M.C., Fahey, M.C., Baynam, G., Gecz, J., Badawi, N., and McIntyre, S.

Abstract

Aim To define clinical common data elements (CDEs) and a mandatory minimum data set (MDS) for genomic studies of cerebral palsy (CP). Method Candidate data elements were collated following a review of the literature and existing CDEs. An online, three-round Delphi survey was used to rate each data element as either ‘core’, ‘recommended’, ‘exploratory’, or ‘not required’. Members of the International Cerebral Palsy Genomics Consortium (ICPGC) rated the core CDEs as either mandatory or not, to form the MDS. For both the CDEs and the MDS, a data element was considered to have reached consensus if more than 75% of respondents agreed. Results Forty-six individuals from around the world formed the Delphi panel: consumers (n=2), scientists/researchers (n=17), medical (n=19), and allied health professionals (n=8). The CDEs include 107 data elements across six categories: demographics, diagnostics, family history, antenatal and neonatal details, clinical traits, and CP-specific assessments. Of these, 10 are mandatory, 42 core, 41 recommended, and 14 are exploratory. Interpretation The ICPGC CDEs provide a foundation for the standardization of phenotype data captured in CP genomic studies and will benefit international collaborations and pooling of data, particularly in rare conditions.

Published
2022

4. Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia

Author

Wiessner, M., Maroofian, R., Ni, M.Y., Pedroni, A., Müller, J.S., Stucka, R., Beetz, C., Efthymiou, S., Santorelli, F.M., Alfares, A.A., Zhu, C., Meszarosova, A. Uhrova, Alehabib, E., Bakhtiari, S., Janecke, A.R., Otero, M.G., Chen, J.Y., Peterson, J.T., Strom, T.M., Jonghe, P. De, Deconinck, T., Ridder, W. De, Winter, J., Pasquariello, R., Ricca, I., Alfadhel, M., Warrenburg, B.P.C. van de, Portier, R., Bergmann, C., Firouzabadi, S. Ghasemi, Jin, S.C., Bilguvar, K., Hamed, S., Abdelhameed, M., Haridy, N.A., Maqbool, S., Rahman, F., Anwar, N., Carmichael, J., Pagnamenta, A., Wood, N.W., Mau-Them, F. Tran, Haack, T., Rocco, M. Di, Ceccherini, I., Iacomino, M., Zara, F., Salpietro, V., Scala, M., Rusmini, M., Xu, Y., Wang, Y., Suzuki, Y., Koh, K., Nan, H., Ishiura, H., Tsuji, S., Lambert, L., Schmitt, E., Lacaze, E., Küpper, H., Dredge, D., Skraban, C., Goldstein, A., Willis, M.J.H., Grand, K., Graham, J.M., Lewis, R.A., Millan, F., Duman, Ö., Dündar, N., Uyanik, G., Schöls, L., Nürnberg, P., Nürnberg, G., Bordes, A. Catala, Seeman, P., Kuchar, M., Darvish, H., Rebelo, A., Bouçanova, F., Medard, J.J., Chrast, R., Auer-Grumbach, M., Alkuraya, F.S., Shamseldin, H., Tala, S. Al, Varaghchi, J. Rezazadeh, Najafi, Maryam, Deschner, S., Gläser, D., Hüttel, W., Kruer, M.C., Kamsteeg, E.J., Takiyama, Y., Züchner, S., Baets, J., Synofzik, M., Schüle, R., Horvath, R., Pierson, T.M., Senderek, J., Wiessner, M., Maroofian, R., Ni, M.Y., Pedroni, A., Müller, J.S., Stucka, R., Beetz, C., Efthymiou, S., Santorelli, F.M., Alfares, A.A., Zhu, C., Meszarosova, A. Uhrova, Alehabib, E., Bakhtiari, S., Janecke, A.R., Otero, M.G., Chen, J.Y., Peterson, J.T., Strom, T.M., Jonghe, P. De, Deconinck, T., Ridder, W. De, Winter, J., Pasquariello, R., Ricca, I., Alfadhel, M., Warrenburg, B.P.C. van de, Portier, R., Bergmann, C., Firouzabadi, S. Ghasemi, Jin, S.C., Bilguvar, K., Hamed, S., Abdelhameed, M., Haridy, N.A., Maqbool, S., Rahman, F., Anwar, N., Carmichael, J., Pagnamenta, A., Wood, N.W., Mau-Them, F. Tran, Haack, T., Rocco, M. Di, Ceccherini, I., Iacomino, M., Zara, F., Salpietro, V., Scala, M., Rusmini, M., Xu, Y., Wang, Y., Suzuki, Y., Koh, K., Nan, H., Ishiura, H., Tsuji, S., Lambert, L., Schmitt, E., Lacaze, E., Küpper, H., Dredge, D., Skraban, C., Goldstein, A., Willis, M.J.H., Grand, K., Graham, J.M., Lewis, R.A., Millan, F., Duman, Ö., Dündar, N., Uyanik, G., Schöls, L., Nürnberg, P., Nürnberg, G., Bordes, A. Catala, Seeman, P., Kuchar, M., Darvish, H., Rebelo, A., Bouçanova, F., Medard, J.J., Chrast, R., Auer-Grumbach, M., Alkuraya, F.S., Shamseldin, H., Tala, S. Al, Varaghchi, J. Rezazadeh, Najafi, Maryam, Deschner, S., Gläser, D., Hüttel, W., Kruer, M.C., Kamsteeg, E.J., Takiyama, Y., Züchner, S., Baets, J., Synofzik, M., Schüle, R., Horvath, R., Pierson, T.M., and Senderek, J.

Abstract

Item does not contain fulltext, Human 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) is a putative iron-containing non-heme oxygenase of unknown specificity and biological significance. We report 25 families containing 34 individuals with neurological disease associated with biallelic HPDL variants. Phenotypes ranged from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spasticity and global developmental delays, sometimes complicated by episodes of neurological and respiratory decompensation. Variants included bona fide pathogenic truncating changes, although most were missense substitutions. Functionality of variants could not be determined directly as the enzymatic specificity of HPDL is unknown; however, when HPDL missense substitutions were introduced into 4-hydroxyphenylpyruvate dioxygenase (HPPD, an HPDL orthologue), they impaired the ability of HPPD to convert 4-hydroxyphenylpyruvate into homogentisate. Moreover, three additional sets of experiments provided evidence for a role of HPDL in the nervous system and further supported its link to neurological disease: (i) HPDL was expressed in the nervous system and expression increased during neural differentiation; (ii) knockdown of zebrafish hpdl led to abnormal motor behaviour, replicating aspects of the human disease; and (iii) HPDL localized to mitochondria, consistent with mitochondrial disease that is often associated with neurological manifestations. Our findings suggest that biallelic HPDL variants cause a syndrome varying from juvenile-onset pure hereditary spastic paraplegia to infantile-onset spastic tetraplegia associated with global developmental delays.

Published
2021

5. Damaging de novo missense variants in EEF1A2lead to a developmental and degenerative epileptic-dyskinetic encephalopathy

Author

Carvill, G.L., Helbig, K.L., Myers, C.T., Scala, M., Huether, Robert, Lewis, S., Willemsen, M.H., Kleefstra, T., Mefford, Heather C., Kruer, M.C., Carvill, G.L., Helbig, K.L., Myers, C.T., Scala, M., Huether, Robert, Lewis, S., Willemsen, M.H., Kleefstra, T., Mefford, Heather C., and Kruer, M.C.

Abstract

Contains fulltext : 220053.pdf (Publisher’s version ) (Closed access)

Published
2020

6. De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

Author

Nabais Sá, M.J., Venselaar, H., Wiel, L.J.M. van de, Trimouille, A., Lasseaux, E., Naudion, S., Lacombe, D., Piton, A., Vincent-Delorme, C., Zweier, C., Reis, A., Trollmann, R., Ruiz, A., Gabau, E., Vetro, A., Guerrini, R., Bakhtiari, S., Kruer, M.C., Amor, D.J., Cooper, M.S., Bijlsma, E.K., Barakat, T.S., Dooren, M.F. van, Slegtenhorst, M. van, Pfundt, R.P., Gilissen, C.F., Willemsen, M.A., Vries, B.B.A. de, Brouwer, A.P.M. de, Koolen, D.A., Nabais Sá, M.J., Venselaar, H., Wiel, L.J.M. van de, Trimouille, A., Lasseaux, E., Naudion, S., Lacombe, D., Piton, A., Vincent-Delorme, C., Zweier, C., Reis, A., Trollmann, R., Ruiz, A., Gabau, E., Vetro, A., Guerrini, R., Bakhtiari, S., Kruer, M.C., Amor, D.J., Cooper, M.S., Bijlsma, E.K., Barakat, T.S., Dooren, M.F. van, Slegtenhorst, M. van, Pfundt, R.P., Gilissen, C.F., Willemsen, M.A., Vries, B.B.A. de, Brouwer, A.P.M. de, and Koolen, D.A.

Abstract

Contains fulltext : 218155.pdf (Publisher’s version ) (Closed access), PURPOSE: To delineate the genotype-phenotype correlation in individuals with likely pathogenic variants in the CLTC gene. METHODS: We describe 13 individuals with de novo CLTC variants. Causality of variants was determined by using the tolerance landscape of CLTC and computer-assisted molecular modeling where applicable. Phenotypic abnormalities observed in the individuals identified with missense and in-frame variants were compared with those with nonsense or frameshift variants in CLTC. RESULTS: All de novo variants were judged to be causal. Combining our data with that of 14 previously reported affected individuals (n = 27), all had intellectual disability (ID), ranging from mild to moderate/severe, with or without additional neurologic, behavioral, craniofacial, ophthalmologic, and gastrointestinal features. Microcephaly, hypoplasia of the corpus callosum, and epilepsy were more frequently observed in individuals with missense and in-frame variants than in those with nonsense and frameshift variants. However, this difference was not significant. CONCLUSIONS: The wide phenotypic variability associated with likely pathogenic CLTC variants seems to be associated with allelic heterogeneity. The detailed clinical characterization of a larger cohort of individuals with pathogenic CLTC variants is warranted to support the hypothesis that missense and in-frame variants exert a dominant-negative effect, whereas the nonsense and frameshift variants would result in haploinsufficiency.

Published
2020

7. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

Author

Wagner, M., Levy, J., Jung-Klawitter, S., Bakhtiari, S., Monteiro, F., Maroofian, R., Bierhals, T., Hempel, M., Elmaleh-Berges, M., Kitajima, J.P., Kim, C.A., Salomao, J.G., Amor, D.J., Cooper, M.S., Perrin, L., Pipiras, E., Neu, A., Doosti, M., Karimiani, E.G., Toosi, M.B., Houlden, H., Jin, S.C., Si, Y.C., Rodan, L.H., Venselaar, H., Kruer, M.C., Kok, F., Hoffmann, G.F., Strom, T.M., Wortmann, S.B., Tabet, A.C., Opladen, T., Wagner, M., Levy, J., Jung-Klawitter, S., Bakhtiari, S., Monteiro, F., Maroofian, R., Bierhals, T., Hempel, M., Elmaleh-Berges, M., Kitajima, J.P., Kim, C.A., Salomao, J.G., Amor, D.J., Cooper, M.S., Perrin, L., Pipiras, E., Neu, A., Doosti, M., Karimiani, E.G., Toosi, M.B., Houlden, H., Jin, S.C., Si, Y.C., Rodan, L.H., Venselaar, H., Kruer, M.C., Kok, F., Hoffmann, G.F., Strom, T.M., Wortmann, S.B., Tabet, A.C., and Opladen, T.

Abstract

Contains fulltext : 220941.pdf (Publisher’s version ) (Closed access), PURPOSE: TNR, encoding Tenascin-R, is an extracellular matrix glycoprotein involved in neurite outgrowth and neural cell adhesion, proliferation and migration, axonal guidance, myelination, and synaptic plasticity. Tenascin-R is exclusively expressed in the central nervous system with highest expression after birth. The protein is crucial in the formation of perineuronal nets that ensheath interneurons. However, the role of Tenascin-R in human pathology is largely unknown. We aimed to establish TNR as a human disease gene and unravel the associated clinical spectrum. METHODS: Exome sequencing and an online matchmaking tool were used to identify patients with biallelic variants in TNR. RESULTS: We identified 13 individuals from 8 unrelated families with biallelic variants in TNR sharing a phenotype consisting of spastic para- or tetraparesis, axial muscular hypotonia, developmental delay, and transient opisthotonus. Four homozygous loss-of-function and four different missense variants were identified. CONCLUSION: We establish TNR as a disease gene for an autosomal recessive nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus and highlight the role of central nervous system extracellular matrix proteins in the pathogenicity of spastic disorders.

Published
2020

8. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

Author

Helbig, K.L., Lauerer, R.J., Bahr, J.C., Souza, I.A., Myers, C.T., Uysal, B., Schwarz, N., Gandini, M.A., Huang, S., Keren, B., Mignot, C., Afenjar, A., Villemeur, T. Billette de, Heron, D., Nava, C., Valence, S., Buratti, J., Fagerberg, C.R., Soerensen, K.P., Kibaek, M., Kamsteeg, E.J., Koolen, D.A., Gunning, B., Schelhaas, H.J., Kruer, M.C., Fox, J., Bakhtiari, S., Jarrar, R., Padilla-Lopez, S., Lindstrom, K., Jin, S.C., Zeng, X., Bilguvar, K., Papavasileiou, A., Xin, Q., Zhu, C., Boysen, K., Vairo, F., Lanpher, B.C., Klee, E.W., Tillema, J.M., Payne, E.T., Cousin, M.A., Kruisselbrink, T.M., Wick, M.J., Baker, J., Haan, E., Smith, N., Corbett, M.A., MacLennan, A.H., Gecz, J., Biskup, S., Goldmann, E., Rodan, L.H., Kichula, E., Segal, E., Jackson, K.E., Asamoah, A., Dimmock, D., McCarrier, J., Botto, L.D., Filloux, F., Tvrdik, T., Cascino, G.D., Klingerman, S., Neumann, C., Wang, R., Jacobsen, J.C., Nolan, M.A., Snell, R.G., Lehnert, K., Sadleir, L.G., Anderlid, B.M., Kvarnung, M., Guerrini, R., Friez, M.J., Lyons, M.J., Leonhard, J., Kringlen, G., Casas, K., Achkar, C.M. El, Smith, L.A., Rotenberg, A., Poduri, A., Sanchis-Juan, A., Carss, K.J., Rankin, J., Zeman, A., Raymond, F.L., Blyth, M., Kerr, B., Ruiz, K., Urquhart, J., Hughes, I., Banka, S., Hedrich, U.B.S., Scheffer, I.E., Helbig, I., Zamponi, G.W., Lerche, H., et al., Helbig, K.L., Lauerer, R.J., Bahr, J.C., Souza, I.A., Myers, C.T., Uysal, B., Schwarz, N., Gandini, M.A., Huang, S., Keren, B., Mignot, C., Afenjar, A., Villemeur, T. Billette de, Heron, D., Nava, C., Valence, S., Buratti, J., Fagerberg, C.R., Soerensen, K.P., Kibaek, M., Kamsteeg, E.J., Koolen, D.A., Gunning, B., Schelhaas, H.J., Kruer, M.C., Fox, J., Bakhtiari, S., Jarrar, R., Padilla-Lopez, S., Lindstrom, K., Jin, S.C., Zeng, X., Bilguvar, K., Papavasileiou, A., Xin, Q., Zhu, C., Boysen, K., Vairo, F., Lanpher, B.C., Klee, E.W., Tillema, J.M., Payne, E.T., Cousin, M.A., Kruisselbrink, T.M., Wick, M.J., Baker, J., Haan, E., Smith, N., Corbett, M.A., MacLennan, A.H., Gecz, J., Biskup, S., Goldmann, E., Rodan, L.H., Kichula, E., Segal, E., Jackson, K.E., Asamoah, A., Dimmock, D., McCarrier, J., Botto, L.D., Filloux, F., Tvrdik, T., Cascino, G.D., Klingerman, S., Neumann, C., Wang, R., Jacobsen, J.C., Nolan, M.A., Snell, R.G., Lehnert, K., Sadleir, L.G., Anderlid, B.M., Kvarnung, M., Guerrini, R., Friez, M.J., Lyons, M.J., Leonhard, J., Kringlen, G., Casas, K., Achkar, C.M. El, Smith, L.A., Rotenberg, A., Poduri, A., Sanchis-Juan, A., Carss, K.J., Rankin, J., Zeman, A., Raymond, F.L., Blyth, M., Kerr, B., Ruiz, K., Urquhart, J., Hughes, I., Banka, S., Hedrich, U.B.S., Scheffer, I.E., Helbig, I., Zamponi, G.W., and Lerche, H., et al.

Abstract

Item does not contain fulltext, Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable seizures, abundant epileptiform activity on EEG, and developmental impairment or regression. CACNA1E is highly expressed in the central nervous system and encodes the alpha1-subunit of the voltage-gated CaV2.3 channel, which conducts high voltage-activated R-type calcium currents that initiate synaptic transmission. Using next-generation sequencing techniques, we identified de novo CACNA1E variants in 30 individuals with DEE, characterized by refractory infantile-onset seizures, severe hypotonia, and profound developmental impairment, often with congenital contractures, macrocephaly, hyperkinetic movement disorders, and early death. Most of the 14, partially recurring, variants cluster within the cytoplasmic ends of all four S6 segments, which form the presumed CaV2.3 channel activation gate. Functional analysis of several S6 variants revealed consistent gain-of-function effects comprising facilitated voltage-dependent activation and slowed inactivation. Another variant located in the domain II S4-S5 linker results in facilitated activation and increased current density. Five participants achieved seizure freedom on the anti-epileptic drug topiramate, which blocks R-type calcium channels. We establish pathogenic variants in CACNA1E as a cause of DEEs and suggest facilitated R-type calcium currents as a disease mechanism for human epilepsy and developmental disorders.

Published
2018

9. Cerebral palsy and genomics: an international consortium

Author

MacLennan, A.H, Kruer, M.C, Baynam, G., Moreno-De-Luca, A., Wilson, Y.A., Zhu, C., Wintle, R.F., Gecz, J., MacLennan, A.H, Kruer, M.C, Baynam, G., Moreno-De-Luca, A., Wilson, Y.A., Zhu, C., Wintle, R.F., and Gecz, J.

Abstract

Letter to the editor

Published
2018

10. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

Author

Klionsky, D.J. Abdelmohsen, K. Abe, A. Abedin, M.J. Abeliovich, H. Arozena, A.A. Adachi, H. Adams, C.M. Adams, P.D. Adeli, K. Adhihetty, P.J. Adler, S.G. Agam, G. Agarwal, R. Aghi, M.K. Agnello, M. Agostinis, P. Aguilar, P.V. Aguirre-Ghiso, J. Airoldi, E.M. Ait-Si-Ali, S. Akematsu, T. Akporiaye, E.T. Al-Rubeai, M. Albaiceta, G.M. Albanese, C. Albani, D. Albert, M.L. Aldudo, J. Algül, H. Alirezaei, M. Alloza, I. Almasan, A. Almonte-Beceril, M. Alnemri, E.S. Alonso, C. Altan-Bonnet, N. Altieri, D.C. Alvarez, S. Alvarez-Erviti, L. Alves, S. Amadoro, G. Amano, A. Amantini, C. Ambrosio, S. Amelio, I. Amer, A.O. Amessou, M. Amon, A. An, Z. Anania, F.A. Andersen, S.U. Andley, U.P. Andreadi, C.K. Andrieu-Abadie, N. Anel, A. Ann, D.K. Anoopkumar-Dukie, S. Antonioli, M. Aoki, H. Apostolova, N. Aquila, S. Aquilano, K. Araki, K. Arama, E. Aranda, A. Araya, J. Arcaro, A. Arias, E. Arimoto, H. Ariosa, A.R. Armstrong, J.L. Arnould, T. Arsov, I. Asanuma, K. Askanas, V. Asselin, E. Atarashi, R. Atherton, S.S. Atkin, J.D. Attardi, L.D. Auberger, P. Auburger, G. Aurelian, L. Autelli, R. Avagliano, L. Avantaggiati, M.L. Avrahami, L. Azad, N. Awale, S. Bachetti, T. Backer, J.M. Bae, D.-H. Bae, J.-S. Bae, O.-N. Bae, S.H. Baehrecke, E.H. Baek, S.-H. Baghdiguian, S. Bagniewska-Zadworna, A. Bai, H. Bai, J. Bai, X.-Y. Bailly, Y. Balaji, K.N. Balduini, W. Ballabio, A. Balzan, R. Banerjee, R. Bánhegyi, G. Bao, H. Barbeau, B. Barrachina, M.D. Barreiro, E. Bartel, B. Bartolomé, A. Bassham, D.C. Bassi, M.T. Bast, R.C., Jr. Basu, A. Batista, M.T. Batoko, H. Battino, M. Bauckman, K. Baumgarner, B.L. Bayer, K.U. Beale, R. Beaulieu, J.-F. Beck, G.R., Jr. Becker, C. Beckham, J.D. Bédard, P.-A. Bednarski, P.J. Begley, T.J. Behl, C. Behrends, C. Behrens, G.M.N. Behrns, K.E. Bejarano, E. Belaid, A. Belleudi, F. Bénard, G. Berchem, G. Bergamaschi, D. Bergami, M. Berkhout, B. Berliocchi, L. Bernard, A. Bernard, M. Bernassola, F. Bertolotti, A. Bess, A.S. Besteiro, S. Bettuzzi, S. Bhalla, S. Bhattacharyya, S. Bhutia, S.K. Biagosch, C. Bianchi, M.W. Biard-Piechaczyk, M. Billes, V. Bincoletto, C. Bingol, B. Bird, S.W. Bitoun, M. Bjedov, I. Blackstone, C. Blanc, L. Blanco, G.A. Blomhoff, H.K. Boada-Romero, E. Böckler, S. Boes, M. Boesze-Battaglia, K. Boise, L.H. Bolino, A. Boman, A. Bonaldo, P. Bordi, M. Bosch, J. Botana, L.M. Botti, J. Bou, G. Bouché, M. Bouchecareilh, M. Boucher, M.-J. Boulton, M.E. Bouret, S.G. Boya, P. Boyer-Guittaut, M. Bozhkov, P.V. Brady, N. Braga, V.M.M. Brancolini, C. Braus, G.H. Bravo-San-Pedro, J.M. Brennan, L.A. Bresnick, E.H. Brest, P. Bridges, D. Bringer, M.-A. Brini, M. Brito, G.C. Brodin, B. Brookes, P.S. Brown, E.J. Brown, K. Broxmeyer, H.E. Bruhat, A. Brum, P.C. Brumell, J.H. Brunetti-Pierri, N. Bryson-Richardson, R.J. Buch, S. Buchan, A.M. Budak, H. Bulavin, D.V. Bultman, S.J. Bultynck, G. Bumbasirevic, V. Burelle, Y. Burke, R.E. Burmeister, M. Bütikofer, P. Caberlotto, L. Cadwell, K. Cahova, M. Cai, D. Cai, J. Cai, Q. Calatayud, S. Camougrand, N. Campanella, M. Campbell, G.R. Campbell, M. Campello, S. Candau, R. Caniggia, I. Cantoni, L. Cao, L. Caplan, A.B. Caraglia, M. Cardinali, C. Cardoso, S.M. Carew, J.S. Carleton, L.A. Carlin, C.R. Carloni, S. Carlsson, S.R. Carmona-Gutierrez, D. Carneiro, L.A.M. Carnevali, O. Carra, S. Carrier, A. Carroll, B. Casas, C. Casas, J. Cassinelli, G. Castets, P. Castro-Obregon, S. Cavallini, G. Ceccherini, I. Cecconi, F. Cederbaum, A.I. Ceña, V. Cenci, S. Cerella, C. Cervia, D. Cetrullo, S. Chaachouay, H. Chae, H.-J. Chagin, A.S. Chai, C.-Y. Chakrabarti, G. Chamilos, G. Chan, E.Y.W. Chan, M.T.V. Chandra, D. Chandra, P. Chang, C.-P. Chang, R.C.-C. Chang, T.Y. Chatham, J.C. Chatterjee, S. Chauhan, S. Che, Y. Cheetham, M.E. Cheluvappa, R. Chen, C.-J. Chen, G. Chen, G.-C. Chen, G. Chen, H. Chen, J.W. Chen, J.-K. Chen, M. Chen, M. Chen, P. Chen, Q. Chen, Q. Chen, S.-D. Chen, S. Chen, S.S.-L. Chen, W. Chen, W.-J. Chen, W.Q. Chen, W. Chen, X. Chen, Y.-H. Chen, Y.-G. Chen, Y. Chen, Y. Chen, Y. Chen, Y.-J. Chen, Y.-Q. Chen, Y. Chen, Z. Chen, Z. Cheng, A. Cheng, C.H.K. Cheng, H. Cheong, H. Cherry, S. Chesney, J. Cheung, C.H.A. Chevet, E. Chi, H.C. Chi, S.-G. Chiacchiera, F. Chiang, H.-L. Chiarelli, R. Chiariello, M. Chieppa, M. Chin, L.-S. Chiong, M. Chiu, G.N.C. Cho, D.-H. Cho, S.-G. Cho, W.C. Cho, Y.-Y. Cho, Y.-S. Choi, A.M.K. Choi, E.-J. Choi, E.-K. Choi, J. Choi, M.E. Choi, S.-I. Chou, T.-F. Chouaib, S. Choubey, D. Choubey, V. Chow, K.-C. Chowdhury, K. Chu, C.T. Chuang, T.-H. Chun, T. Chung, H. Chung, T. Chung, Y.-L. Chwae, Y.-J. Cianfanelli, V. Ciarcia, R. Ciechomska, I.A. Ciriolo, M.R. Cirone, M. Claerhout, S. Clague, M.J. Cl� ria, J. Clarke, P.G.H. Clarke, R. Clementi, E. Cleyrat, C. Cnop, M. Coccia, E.M. Cocco, T. Codogno, P. Coers, J. Cohen, E.E.W. Colecchia, D. Coletto, L. Coll, N.S. Colucci-Guyon, E. Comincini, S. Condello, M. Cook, K.L. Coombs, G.H. Cooper, C.D. Cooper, J.M. Coppens, I. Corasaniti, M.T. Corazzari, M. Corbalan, R. Corcelle-Termeau, E. Cordero, M.D. Corral-Ramos, C. Corti, O. Cossarizza, A. Costelli, P. Costes, S. Cotman, S.L. Coto-Montes, A. Cottet, S. Couve, E. Covey, L.R. Cowart, L.A. Cox, J.S. Coxon, F.P. Coyne, C.B. Cragg, M.S. Craven, R.J. Crepaldi, T. Crespo, J.L. Criollo, A. Crippa, V. Cruz, M.T. Cuervo, A.M. Cuezva, J.M. Cui, T. Cutillas, P.R. Czaja, M.J. Czyzyk-Krzeska, M.F. Dagda, R.K. Dahmen, U. Dai, C. Dai, W. Dai, Y. Dalby, K.N. Valle, L.D. Dalmasso, G. D'amelio, M. Damme, M. Darfeuille-Michaud, A. Dargemont, C. Darley-Usmar, V.M. Dasarathy, S. Dasgupta, B. Dash, S. Dass, C.R. Davey, H.M. Davids, L.M. Dávila, D. Davis, R.J. Dawson, T.M. Dawson, V.L. Daza, P. de Belleroche, J. de Figueiredo, P. de Figueiredo, R.C.B.Q. de la Fuente, J. De Martino, L. De Matteis, A. De Meyer, G.R.Y. De Milito, A. De Santi, M. de Souza, W. De Tata, V. De Zio, D. Debnath, J. Dechant, R. Decuypere, J.-P. Deegan, S. Dehay, B. Del Bello, B. Del Re, D.P. Delage-Mourroux, R. Delbridge, L.M.D. Deldicque, L. Delorme-Axford, E. Deng, Y. Dengjel, J. Denizot, M. Dent, P. Der, C.J. Deretic, V. Derrien, B. Deutsch, E. Devarenne, T.P. Devenish, R.J. Di Bartolomeo, S. Di Daniele, N. Di Domenico, F. Di Nardo, A. Di Paola, S. Di Pietro, A. Di Renzo, L. Di Antonio, A. Díaz-Araya, G. Díaz-Laviada, I. Diaz-Meco, M.T. Diaz-Nido, J. Dickey, C.A. Dickson, R.C. Diederich, M. Digard, P. Dikic, I. Dinesh-Kumar, S.P. Ding, C. Ding, W.-X. Ding, Z. Dini, L. Distler, J.H.W. Diwan, A. Djavaheri-Mergny, M. Dmytruk, K. Dobson, R.C.J. Doetsch, V. Dokladny, K. Dokudovskaya, S. Donadelli, M. Dong, X.C. Dong, X. Dong, Z. Donohue, T.M., Jr. Donohue-Jr, T.M. Doran, K.S. D'orazi, G. Dorn, G.W., II Dosenko, V. Dridi, S. Drucker, L. Du, J. Du, L.-L. Du, L. du Toit, A. Dua, P. Duan, L. Duann, P. Dubey, V.K. Duchen, M.R. Duchosal, M.A. Duez, H. Dugail, I. Dumit, V.I. Duncan, M.C. Dunlop, E.A. Dunn, W.A., Jr. Dupont, N. Dupuis, L. Durán, R.V. Durcan, T.M. Duvezin-Caubet, S. Duvvuri, U. Eapen, V. Ebrahimi-Fakhari, D. Echard, A. Eckhart, L. Edelstein, C.L. Edinger, A.L. Eichinger, L. Eisenberg, T. Eisenberg-Lerner, A. Eissa, N.T. El-Deiry, W.S. El-Khoury, V. Elazar, Z. Eldar-Finkelman, H. Elliott, C.J.H. Emanuele, E. Emmenegger, U. Engedal, N. Engelbrecht, A.-M. Engelender, S. Enserink, J.M. Erdmann, R. Erenpreisa, J. Eri, R. Eriksen, J.L. Erman, A. Escalante, R. Eskelinen, E.-L. Espert, L. Esteban-Martínez, L. Evans, T.J. Fabri, M. Fabrias, G. Fabrizi, C. Facchiano, A. Færgeman, N.J. Faggioni, A. Fairlie, W.D. Fan, C. Fan, D. Fan, J. Fang, S. Fanto, M. Fanzani, A. Farkas, T. Faure, M. Favier, F.B. Fearnhead, H. Federici, M. Fei, E. Felizardo, T.C. Feng, H. Feng, Y. Feng, Y. Ferguson, T.A. Fernández, Á.F. Fernandez-Barrena, M.G. Fernandez-Checa, J.C. Fernández-López, A. Fernandez-Zapico, M.E. Feron, O. Ferraro, E. Ferreira-Halder, C.V. Fesus, L. Feuer, R. Fiesel, F.C. Filippi-Chiela, E.C. Filomeni, G. Fimia, G.M. Fingert, J.H. Finkbeiner, S. Finkel, T. Fiorito, F. Fisher, P.B. Flajolet, M. Flamigni, F. Florey, O. Florio, S. Floto, R.A. Folini, M. Follo, C. Fon, E.A. Fornai, F. Fortunato, F. Fraldi, A. Franco, R. Francois, A. François, A. Frankel, L.B. Fraser, I.D.C. Frey, N. Freyssenet, D.G. Frezza, C. Friedman, S.L. Frigo, D.E. Fu, D. Fuentes, J.M. Fueyo, J. Fujitani, Y. Fujiwara, Y. Fujiya, M. Fukuda, M. Fulda, S. Fusco, C. Gabryel, B. Gaestel, M. Gailly, P. Gajewska, M. Galadari, S. Galili, G. Galindo, I. Galindo, M.F. Galliciotti, G. Galluzzi, L. Galluzzi, L. Galy, V. Gammoh, N. Gandy, S. Ganesan, A.K. Ganesan, S. Ganley, I.G. Gannagé, M. Gao, F.-B. Gao, F. Gao, J.-X. Nannig, L.G. Véscovi, E.G. Garcia-Macía, M. Garcia-Ruiz, C. Garg, A.D. Garg, P.K. Gargini, R. Gassen, N.C. Gatica, D. Gatti, E. Gavard, J. Gavathiotis, E. Ge, L. Ge, P. Ge, S. Gean, P.-W. Gelmetti, V. Genazzani, A.A. Geng, J. Genschik, P. Gerner, L. Gestwicki, J.E. Gewirtz, D.A. Ghavami, S. Ghigo, E. Ghosh, D. Giammarioli, A.M. Giampieri, F. Giampietri, C. Giatromanolaki, A. Gibbings, D.J. Gibellini, L. Gibson, S.B. Ginet, V. Giordano, A. Giorgini, F. Giovannetti, E. Girardin, S.E. Gispert, S. Giuliano, S. Gladson, C.L. Glavic, A. Gleave, M. Godefroy, N. Gogal, R.M., Jr. Gokulan, K. Goldman, G.H. Goletti, D. Goligorsky, M.S. Gomes, A.V. Gomes, L.C. Gomez, H. Gomez-Manzano, C. Gómez-Sánchez, R. Gonçalves, D.A.P. Goncu, E. Gong, Q. Gongora, C. Gonzalez, C.B. Gonzalez-Alegre, P. Gonzalez-Cabo, P. González-Polo, R.A. Goping, I.S. Gorbea, C. Gorbunov, N.V. Goring, D.R. Gorman, A.M. Gorski, S.M. Goruppi, S. Goto-Yamada, S. Gotor, C. Gottlieb, R.A. Gozes, I. Gozuacik, D. Graba, Y. Graef, M. Granato, G.E. Grant, G.D. Grant, S. Gravina, G.L. Green, D.R. Greenhough, A. Greenwood, M.T. Grimaldi, B. Gros, F. Grose, C. Groulx, J.-F. Gruber, F. Grumati, P. Grune, T. Guan, J.-L. Guan, K.-L. Guerra, B. Guillen, C. Gulshan, K. Gunst, J. Guo, C. Guo, L. Guo, M. Guo, W. Guo, X.-G. Gust, A.A. Gustafsson, Å.B. Gutierrez, E. Gutierrez, M.G. Gwak, H.-S. Haas, A. Haber, J.E. Hadano, S. Hagedorn, M. Hahn, D.R. Halayko, A.J. Hamacher-Brady, A. Hamada, K. Hamai, A. Hamann, A. Hamasaki, M. Hamer, I. Hamid, Q. Hammond, E.M. Han, F. Han, W. Handa, J.T. Hanover, J.A. Hansen, M. Harada, M. Harhaji-Trajkovic, L. Harper, J.W. Harrath, A.H. Harris, A.L. Harris, J. Hasler, U. Hasselblatt, P. Hasui, K. Hawley, R.G. Hawley, T.S. He, C. He, C.Y. He, F. He, G. He, R.-R. He, X.-H. He, Y.-W. He, Y.-Y. Heath, J.K. Hébert, M.-J. Heinzen, R.A. Helgason, G.V. Hensel, M. Henske, E.P. Her, C. Herman, P.K. Hernández, A. Hernandez, C. Hernández-Tiedra, S. Hetz, C. Hiesinger, P.R. Higaki, K. Hilfiker, S. Hill, B.G. Hill, J.A. Hill, W.D. Hino, K. Hofius, D. Hofman, P. Höglinger, G.U. Höhfeld, J. Holz, M.K. Hong, Y. Hood, D.A. Hoozemans, J.J.M. Hoppe, T. Hsu, C. Hsu, C.-Y. Hsu, L.-C. Hu, D. Hu, G. Hu, H.-M. Hu, H. Hu, M.C. Hu, Y.-C. Hu, Z.-W. Hua, F. Hua, Y. Huang, C. Huang, H.-L. Huang, K.-H. Huang, K.-Y. Huang, S. Huang, S. Huang, W.-P. Huang, Y.-R. Huang, Y. Huang, Y. Huber, T.B. Huebbe, P. Huh, W.-K. Hulmi, J.J. Hur, G.M. Hurley, J.H. Husak, Z. Hussain, S.N.A. Hussain, S. Hwang, J.J. Hwang, S. Hwang, T.I.S. Ichihara, A. Imai, Y. Imbriano, C. Inomata, M. Into, T. Iovane, V. Iovanna, J.L. Iozzo, R.V. Ip, N.Y. Irazoqui, J.E. Iribarren, P. Isaka, Y. Isakovic, A.J. Ischiropoulos, H. Isenberg, J.S. Ishaq, M. Ishida, H. Ishii, I. Ishmael, J.E. Isidoro, C. Isobe, K.-I. Isono, E. Issazadeh-Navikas, S. Itahana, K. Itakura, E. Ivanov, A.I. Iyer, A.K.V. Izquierdo, J.M. Izumi, Y. Izzo, V. Jäättelä, M. Jaber, N. Jackson, D.J. Jackson, W.T. Jacob, T.G. Jacques, T.S. Jagannath, C. Jain, A. Jana, N.R. Jang, B.K. Jani, A. Janji, B. Jannig, P.R. Jansson, P.J. Jean, S. Jendrach, M. Jeon, J.-H. Jessen, N. Jeung, E.-B. Jia, K. Jia, L. Jiang, H. Jiang, H. Jiang, L. Jiang, T. Jiang, X. Jiang, X. Jiang, Y. Jiang, Y. Jiménez, A. Jin, C. Jin, H. Jin, L. Jin, M. Jin, S. Jinwal, U.K. Jo, E.-K. Johansen, T. Johnson, D.E. Johnson, G.V.W. Johnson, J.D. Jonasch, E. Jones, C. Joosten, L.A.B. Jordan, J. Joseph, A.-M. Joseph, B. Joubert, A.M. Ju, D. Ju, J. Juan, H.-F. Juenemann, K. Juhász, G. Jung, H.S. Jung, J.U. Jung, Y.-K. Jungbluth, H. Justice, M.J. Jutten, B. Kaakoush, N.O. Kaarniranta, K. Kaasik, A. Kabuta, T. Kaeffer, B. Kågedal, K. Kahana, A. Kajimura, S. Kakhlon, O. Kalia, M. Kalvakolanu, D.V. Kamada, Y. Kambas, K. Kaminskyy, V.O. Kampinga, H.H. Kandouz, M. Kang, C. Kang, R. Kang, T.-C. Kanki, T. Kanneganti, T.-D. Kanno, H. Kanthasamy, A.G. Kantorow, M. Kaparakis-Liaskos, M. Kapuy, O. Karantza, V. Karim, M.R. Karmakar, P. Kaser, A. Kaushik, S. Kawula, T. Kaynar, A.M. Ke, P.-Y. Ke, Z.-J. Kehrl, J.H. Keller, K.E. Kemper, J.K. Kenworthy, A.K. Kepp, O. Kern, A. Kesari, S. Kessel, D. Ketteler, R. Kettelhut, I.C. Khambu, B. Khan, M.M. Khandelwal, V.K.M. Khare, S. Kiang, J.G. Kiger, A.A. Kihara, A. Kim, A.L. Kim, C.H. Kim, D.R. Kim, D.-H. Kim, E.K. Kim, H.Y. Kim, H.-R. Kim, J.-S. Kim, J.H. Kim, J.C. Kim, J.H. Kim, K.W. Kim, M.D. Kim, M.-M. Kim, P.K. Kim, S.W. Kim, S.-Y. Kim, Y.-S. Kim, Y. Kimchi, A. Kimmelman, A.C. Kimura, T. King, J.S. Kirkegaard, K. Kirkin, V. Kirshenbaum, L.A. Kishi, S. Kitajima, Y. Kitamoto, K. Kitaoka, Y. Kitazato, K. Kley, R.A. Klimecki, W.T. Klinkenberg, M. Klucken, J. Knævelsrud, H. Knecht, E. Knuppertz, L. Ko, J.-L. Kobayashi, S. Koch, J.C. Koechlin-Ramonatxo, C. Koenig, U. Koh, Y.H. Köhler, K. Kohlwein, S.D. Koike, M. Komatsu, M. Kominami, E. Kong, D. Kong, H.J. Konstantakou, E.G. Kopp, B.T. Korcsmaros, T. Korhonen, L. Korolchuk, V.I. Koshkina, N.V. Kou, Y. Koukourakis, M.I. Koumenis, C. Kovács, A.L. Kovács, T. Kovacs, W.J. Koya, D. Kraft, C. Krainc, D. Kramer, H. Kravic-Stevovic, T. Krek, W. Kretz-Remy, C. Krick, R. Krishnamurthy, M. Kriston-Vizi, J. Kroemer, G. Kruer, M.C. Kruger, R. Ktistakis, N.T. Kuchitsu, K. Kuhn, C. Kumar, A.P. Kumar, A. Kumar, A. Kumar, D. Kumar, D. Kumar, R. Kumar, S. Kundu, M. Kung, H.-J. Kuno, A. Kuo, S.-H. Kuret, J. Kurz, T. Kwok, T. Kwon, T.K. Kwon, Y.T. Kyrmizi, I. La Spada, A.R. Lafont, F. Lahm, T. Lakkaraju, A. Lam, T. Lamark, T. Lancel, S. Landowski, T.H. Lane, D.J.R. Lane, J.D. Lanzi, C. Lapaquette, P. Lapierre, L.R. Laporte, J. Laukkarinen, J. Laurie, G.W. Lavandero, S. Lavie, L. Lavoie, M.J. Law, B.Y.K. Law, H.K.-W. Law, K.B. Layfield, R. Lazo, P.A. Le Cam, L. Le Roch, K.G. Le Stunff, H. Leardkamolkarn, V. Lecuit, M. Lee, B.-H. Lee, C.-H. Lee, E.F. Lee, G.M. Lee, H.-J. Lee, H. Lee, J.K. Lee, J. Lee, J.-H. Lee, J.H. Lee, M. Lee, M.-S. Lee, P.J. Lee, S.W. Lee, S.-J. Lee, S.-J. Lee, S.Y. Lee, S.H. Lee, S.S. Lee, S.-J. Lee, S. Lee, Y.-R. Lee, Y.J. Lee, Y.H. Leeuwenburgh, C. Lefort, S. Legouis, R. Lei, J. Lei, Q.-Y. Leib, D.A. Leibowitz, G. Lekli, I. Lemaire, S.D. Lemasters, J.J. Lemberg, M.K. Lemoine, A. Leng, S. Lenz, G. Lenzi, P. Lerman, L.O. Barbato, D.L. Leu, J.I.J. Leung, H.Y. Levine, B. Lewis, P.A. Lezoualch, F. Li, C. Li, F. Li, F.-J. Li, J. Li, K. Li, L. Li, M. Li, Q. Li, R. Li, S. Li, W. Li, X. Li, Y. Lian, J. Liang, C. Liang, Q. Liao, Y. Liberal, J. Liberski, P.P. Lie, P. Lieberman, A.P. Lim, H.J. Lim, K.-L. Lim, K. Lima, R.T. Lin, C.-S. Lin, C.-F. Lin, F. Lin, F. Lin, F.-C. Lin, K. Lin, K.-H. Lin, P.-H. Lin, T. Lin, W.-W. Lin, Y.-S. Lin, Y. Linden, R. Lindholm, D. Lindqvist, L.M. Lingor, P. Linkermann, A. Liotta, L.A. Lipinski, M.M. Lira, V.A. Lisanti, M.P. Liton, P.B. Liu, B. Liu, C. Liu, C.-F. Liu, F. Liu, H.-J. Liu, J. Liu, J.-J. Liu, J.-L. Liu, K. Liu, L. Liu, L. Liu, Q. Liu, R.-Y. Liu, S. Liu, S. Liu, W. Liu, X.-D. Liu, X. Liu, X.-H. Liu, X. Liu, X. Liu, X. Liu, Y. Liu, Y. Liu, Z. Liu, Z. Liuzzi, J.P. Lizard, G. Ljujic, M. Lodhi, I.J. Logue, S.E. Lokeshwar, B.L. Long, Y.C. Lonial, S. Loos, B. López-Otín, C. López-Vicario, C. Lorente, M. Lorenzi, P.L. Lõrincz, P. Los, M. Lotze, M.T. Lovat, P.E. Lu, B. Lu, B. Lu, J. Lu, Q. Lu, S.-M. Lu, S. Lu, Y. Luciano, F. Luckhart, S. Lucocq, J.M. Ludovico, P. Lugea, A. Lukacs, N.W. Lum, J.J. Lund, A.H. Luo, H. Luo, J. Luo, S. Luparello, C. Lyons, T. Ma, J. Ma, Y. Ma, Y. Ma, Z. Machado, J. Machado-Santelli, G.M. Macian, F. MacIntosh, G.C. MacKeigan, J.P. Macleod, K.F. MacMicking, J.D. MacMillan-Crow, L.A. Madeo, F. Madesh, M. Madrigal-Matute, J. Maeda, A. Maeda, T. Maegawa, G. Maellaro, E. Maes, H. Magariños, M. Maiese, K. Maiti, T.K. Maiuri, L. Maiuri, M.C. Maki, C.G. Malli, R. Malorni, W. Maloyan, A. Mami-Chouaib, F. Man, N. Mancias, J.D. Mandelkow, E.-M. Mandell, M.A. Manfredi, A.A. Manié, S.N. Manzoni, C. Mao, K. Mao, Z. Mao, Z.-W. Marambaud, P. Marconi, A.M. Marelja, Z. Marfe, G. Margeta, M. Margittai, E. Mari, M. Mariani, F.V. Marin, C. Marinelli, S. Mariño, G. Markovic, I. Marquez, R. Martelli, A.M. Martens, S. Martin, K.R. Martin, S.J. Martin, S. Martin-Acebes, M.A. Martín-Sanz, P. Martinand-Mari, C. Martinet, W. Martinez, J. Martinez-Lopez, N. Martinez-Outschoorn, U. Martínez-Velázquez, M. Martinez-Vicente, M. Martins, W.K. Mashima, H. Mastrianni, J.A. Matarese, G. Matarrese, P. Mateo, R. Matoba, S. Matsumoto, N. Matsushita, T. Matsuura, A. Matsuzawa, T. Mattson, M.P. Matus, S. Maugeri, N. Mauvezin, C. Mayer, A. Maysinger, D. Mazzolini, G.D. McBrayer, M.K. McCall, K. McCormick, C. McInerney, G.M. McIver, S.C. McKenna, S. McMahon, J.J. McNeish, I.A. Mechta-Grigoriou, F. Medema, J.P. Medina, D.L. Megyeri, K. Mehrpour, M. Mehta, J.L. Mei, Y. Meier, U.-C. Meijer, A.J. Meléndez, A. Melino, G. Melino, S. de Melo, E.J.T. Mena, M.A. Meneghini, M.D. Menendez, J.A. Menezes, R. Meng, L. Meng, L.-H. Meng, S. Menghini, R. Menko, A.S. Menna-Barreto, R.F.S. Menon, M.B. Meraz-Ríos, M.A. Merla, G. Merlini, L. Merlot, A.M. Meryk, A. Meschini, S. Meyer, J.N. Mi, M.-T. Miao, C.-Y. Micale, L. Michaeli, S. Michiels, C. Migliaccio, A.R. Mihailidou, A.S. Mijaljica, D. Mikoshiba, K. Milan, E. Miller-Fleming, L. Mills, G.B. Mills, I.G. Minakaki, G. Minassian, B.A. Ming, X.-F. Minibayeva, F. Minina, E.A. Mintern, J.D. Minucci, S. Miranda-Vizuete, A. Mitchell, C.H. Miyamoto, S. Miyazawa, K. Mizushima, N. Mnich, K. Mograbi, B. Mohseni, S. Moita, L.F. Molinari, M. Molinari, M. Møller, A.B. Mollereau, B. Mollinedo, F. Mongillo, M. Monick, M.M. Montagnaro, S. Montell, C. Moore, D.J. Moore, M.N. Mora-Rodriguez, R. Moreira, P.I. Morel, E. Morelli, M.B. Moreno, S. Morgan, M.J. Moris, A. Moriyasu, Y. Morrison, J.L. Morrison, L.A. Morselli, E. Moscat, J. Moseley, P.L. Mostowy, S. Motori, E. Mottet, D. Mottram, J.C. Moussa, C.E.-H. Mpakou, V.E. Mukhtar, H. Levy, J.M.M. Muller, S. Muñoz-Moreno, R. Muñoz-Pinedo, C. Münz, C. Murphy, M.E. Murray, J.T. Murthy, A. Mysorekar, I.U. Nabi, I.R. Nabissi, M. Nader, G.A. Nagahara, Y. Nagai, Y. Nagata, K. Nagelkerke, A. Nagy, P. Naidu, S.R. Nair, S. Nakano, H. Nakatogawa, H. Nanjundan, M. Napolitano, G. Naqvi, N.I. Nardacci, R. Narendra, D.P. Narita, M. Nascimbeni, A.C. Natarajan, R. Navegantes, L.C. Nawrocki, S.T. Nazarko, T.Y. Nazarko, V.Y. Neill, T. Neri, L.M. Netea, M.G. Netea-Maier, R.T. Neves, B.M. Ney, P.A. Nezis, I.P. Nguyen, H.T.T. Nguyen, H.P. Nicot, A.-S. Nilsen, H. Nilsson, P. Nishimura, M. Nishino, I. Niso-Santano, M. Niu, H. Nixon, R.A. Njar, V.C.O. Noda, T. Noegel, A.A. Nolte, E.M. Norberg, E. Norga, K.K. Noureini, S.K. Notomi, S. Notterpek, L. Nowikovsky, K. Nukina, N. Nürnberger, T. O'donnell, V.B. O'donovan, T. O'dwyer, P.J. Oehme, I. Oeste, C.L. Ogawa, M. Ogretmen, B. Ogura, Y. Oh, Y.J. Ohmuraya, M. Ohshima, T. Ojha, R. Okamoto, K. Okazaki, T. Oliver, F.J. Ollinger, K. Olsson, S. Orban, D.P. Ordonez, P. Orhon, I. Orosz, L. O'rourke, E.J. Orozco, H. Ortega, A.L. Ortona, E. Osellame, L.D. Oshima, J. Oshima, S. Osiewacz, H.D. Otomo, T. Otsu, K. Ou, J.-H.J. Outeiro, T.F. Ouyang, D.-Y. Ouyang, H. Overholtzer, M. Ozbun, M.A. Ozdinler, P.H. Ozpolat, B. Pacelli, C. Paganetti, P. Page, G. Pages, G. Pagnini, U. Pajak, B. Pak, S.C. Pakos-Zebrucka, K. Pakpour, N. Palková, Z. Palladino, F. Pallauf, K. Pallet, N. Palmieri, M. Paludan, S.R. Palumbo, C. Palumbo, S. Pampliega, O. Pan, H. Pan, W. Panaretakis, T. Pandey, A. Pantazopoulou, A. Papackova, Z. Papademetrio, D.L. Papassideri, I. Papini, A. Parajuli, N. Pardo, J. Parekh, V.V. Parenti, G. Park, J.-I. Park, J. Park, O.K. Parker, R. Parlato, R. Parys, J.B. Parzych, K.R. Pasquet, J.-M. Pasquier, B. Pasumarthi, K.B.S. Patterson, C. Pattingre, S. Pattison, S. Pause, A. Pavenstädt, H. Pavone, F. Pedrozo, Z. Peña, F.J. Peñalva, M.A. Pende, M. Peng, J. Penna, F. Penninger, J.M. Pensalfini, A. Pepe, S. Pereira, G.J.S. Pereira, P.C. de la Cruz, V.P. Pérez-Pérez, M.E. Pérez-Rodríguez, D. Pérez-Sala, D. Perier, C. Perl, A. Perlmutter, D.H. Perrotta, I. Pervaiz, S. Pesonen, M. Pessin, J.E. Peters, G.J. Petersen, M. Petrache, I. Petrof, B.J. Petrovski, G. Phang, J.M. Piacentini, M. Pierdominici, M. Pierre, P. Pierrefite-Carle, V. Pietrocola, F. Pimentel-Muiños, F.X. Pinar, M. Pineda, B. Pinkas-Kramarski, R. Pinti, M. Pinton, P. Piperdi, B. Piret, J.M. Platanias, L.C. Platta, H.W. Plowey, E.D. Pöggeler, S. Poirot, M. Polčic, P. Poletti, A. Poon, A.H. Popelka, H. Popova, B. Poprawa, I. Poulose, S.M. Poulton, J. Powers, S.K. Powers, T. Pozuelo-Rubio, M. Prak, K. Prange, R. Prescott, M. Priault, M. Prince, S. Proia, R.L. Proikas-Cezanne, T. Prokisch, H. Promponas, V.J. Przyklenk, K. Puertollano, R. Pugazhenthi, S. Puglielli, L. Pujol, A. Puyal, J. Pyeon, D. Qi, X. Qian, W.-B. Qin, Z.-H. Qiu, Y. Qu, Z. Quadrilatero, J. Quinn, F. Raben, N. Rabinowich, H. Radogna, F. Ragusa, M.J. Rahmani, M. Raina, K. Ramanadham, S. Ramesh, R. Rami, A. Randall-Demllo, S. Randow, F. Rao, H. Rao, V.A. Rasmussen, B.B. Rasse, T.M. Ratovitski, E.A. Rautou, P.-E. Ray, S.K. Razani, B. Reed, B.H. Reggiori, F. Rehm, M. Reichert, A.S. Rein, T. Reiner, D.J. Reits, E. Ren, J. Ren, X. Renna, M. Reusch, J.E.B. Revuelta, J.L. Reyes, L. Rezaie, A.R. Richards, R.I. Richardson, R. Richetta, C. Riehle, M.A. Rihn, B.H. Rikihisa, Y. Riley, B.E. Rimbach, G. Rippo, M.R. Ritis, K. Rizzi, F. Rizzo, E. Roach, P.J. Robbins, J. Roberge, M. Roca, G. Roccheri, M.C. Rocha, S. Rodrigues, C.M.P. Rodríguez, C.I. de Cordoba, S.R. Rodriguez-Muela, N. Roelofs, J. Rogov, V.V. Rohn, T.T. Rohrer, B. Romanelli, D. Romani, L. Romano, P.S. Roncero, M.I.G. Rosa, J.L. Rosello, A. Rosen, K.V. Rosenstiel, P. Rost-Roszkowska, M. Roth, K.A. Roué, G. Rouis, M. Rouschop, K.M. Ruan, D.T. Ruano, D. Rubinsztein, D.C. Rucker, E.B., III Rudich, A. Rudolf, E. Rudolf, R. Ruegg, M.A. Ruiz-Roldan, C. Ruparelia, A.A. Rusmini, P. Russ, D.W. Russo, G.L. Russo, G. Russo, R. Rusten, T.E. Ryabovol, V. Ryan, K.M. Ryter, S.W. Sabatini, D.M. Sacher, M. Sachse, C. Sack, M.N. Sadoshima, J. Saftig, P. Sagi-Eisenberg, R. Sahni, S. Saikumar, P. Saito, T. Saitoh, T. Sakakura, K. Sakoh-Nakatogawa, M. Sakuraba, Y. Salazar-Roa, M. Salomoni, P. Saluja, A.K. Salvaterra, P.M. Salvioli, R. Samali, A. Sanchez, A.M.J. Sánchez-Alcázar, J.A. Sanchez-Prieto, R. Sandri, M. Sanjuan, M.A. Santaguida, S. Santambrogio, L. Santoni, G. Dos Santos, C.N. Saran, S. Sardiello, M. Sargent, G. Sarkar, P. Sarkar, S. Sarrias, M.R. Sarwal, M.M. Sasakawa, C. Sasaki, M. Sass, M. Sato, K. Sato, M. Satriano, J. Savaraj, N. Saveljeva, S. Schaefer, L. Schaible, U.E. Scharl, M. Schatzl, H.M. Schekman, R. Scheper, W. Schiavi, A. Schipper, H.M. Schmeisser, H. Schmidt, J. Schmitz, I. Schneider, B.E. Schneider, E.M. Schneider, J.L. Schon, E.A. Schönenberger, M.J. Schönthal, A.H. Schorderet, D.F. Schröder, B. Schuck, S. Schulze, R.J. Schwarten, M. Schwarz, T.L. Sciarretta, S. Scotto, K. Scovassi, A.I. Screaton, R.A. Screen, M. Seca, H. Sedej, S. Segatori, L. Segev, N. Seglen, P.O. Seguí-Simarro, J.M. Segura-Aguilar, J. Seiliez, I. Seki, E. Sell, C. Semenkovich, C.F. Semenza, G.L. Sen, U. Serra, A.L. Serrano-Puebla, A. Sesaki, H. Setoguchi, T. Settembre, C. Shacka, J.J. Shajahan-Haq, A.N. Shapiro, I.M. Sharma, S. She, H. Shen, C.-K.J. Shen, C.-C. Shen, H.-M. Shen, S. Shen, W. Sheng, R. Sheng, X. Sheng, Z.-H. Shepherd, T.G. Shi, J. Shi, Q. Shi, Q. Shi, Y. Shibutani, S. Shibuya, K. Shidoji, Y. Shieh, J.-J. Shih, C.-M. Shimada, Y. Shimizu, S. Shin, D.W. Shinohara, M.L. Shintani, M. Shintani, T. Shioi, T. Shirabe, K. Shiri-Sverdlov, R. Shirihai, O. Shore, G.C. Shu, C.-W. Shukla, D. Sibirny, A.A. Sica, V. Sigurdson, C.J. Sigurdsson, E.M. Sijwali, P.S. Sikorska, B. Silveira, W.A. Silvente-Poirot, S. Silverman, G.A. Simak, J. Simmet, T. Simon, A.K. Simon, H.-U. Simone, C. Simons, M. Simonsen, A. Singh, R. Singh, S.V. Singh, S.K. Sinha, D. Sinha, S. Sinicrope, F.A. Sirko, A. Sirohi, K. Sishi, B.J.N. Sittler, A. Siu, P.M. Sivridis, E. Skwarska, A. Slack, R. Slaninová, I. Slavov, N. Smaili, S.S. Smalley, K.S.M. Smith, D.R. Soenen, S.J. Soleimanpour, S.A. Solhaug, A. Somasundaram, K. Son, J.H. Sonawane, A. Song, C. Song, F. Song, H.K. Song, J.-X. Song, W. Soo, K.Y. Sood, A.K. Soong, T.W. Soontornniyomkij, V. Sorice, M. Sotgia, F. Soto-Pantoja, D.R. Sotthibundhu, A. Sousa, M.J. Spaink, H.P. Span, P.N. Spang, A. Sparks, J.D. Speck, P.G. Spector, S.A. Spies, C.D. Springer, W. Clair, D.S. Stacchiotti, A. Staels, B. Stang, M.T. Starczynowski, D.T. Starokadomskyy, P. Steegborn, C. Steele, J.W. Stefanis, L. Steffan, J. Stellrecht, C.M. Stenmark, H. Stepkowski, T.M. Stern, S.T. Stevens, C. Stockwell, B.R. Stoka, V. Storchova, Z. Stork, B. Stratoulias, V. Stravopodis, D.J. Strnad, P. Strohecker, A.M. Ström, A.-L. Stromhaug, P. Stulik, J. Su, Y.-X. Su, Z. Subauste, C.S. Subramaniam, S. Sue, C.M. Suh, S.W. Sui, X. Sukseree, S. Sulzer, D. Sun, F.-L. Sun, J. Sun, J. Sun, S.-Y. Sun, Y. Sun, Y. Sun, Y. Sundaramoorthy, V. Sung, J. Suzuki, H. Suzuki, K. Suzuki, N. Suzuki, T. Suzuki, Y.J. Swanson, M.S. Swanton, C. Swärd, K. Swarup, G. Sweeney, S.T. Sylvester, P.W. Szatmari, Z. Szegezdi, E. Szlosarek, P.W. Taegtmeyer, H. Tafani, M. Taillebourg, E. Tait, S.W.G. Takacs-Vellai, K. Takahashi, Y. Takáts, S. Takemura, G. Takigawa, N. Talbot, N.J. Tamagno, E. Tamburini, J. Tan, C.-P. Tan, L. Tan, M.L. Tan, M. Tan, Y.-J. Tanaka, K. Tanaka, M. Tang, D. Tang, D. Tang, G. Tanida, I. Tanji, K. Tannous, B.A. Tapia, J.A. Tasset-Cuevas, I. Tatar, M. Tavassoly, I. Tavernarakis, N. Taylor, A. Taylor, G.S. Taylor, G.A. Taylor, J.P. Taylor, M.J. Tchetina, E.V. Tee, A.R. Teixeira-Clerc, F. Telang, S. Tencomnao, T. Teng, B.-B. Teng, R.-J. Terro, F. Tettamanti, G. Theiss, A.L. Theron, A.E. Thomas, K.J. Thomé, M.P. Thomes, P.G. Thorburn, A. Thorner, J. Thum, T. Thumm, M. Thurston, T.L.M. Tian, L. Till, A. Ting, J.P.-Y. Ting, J.P.Y. Titorenko, V.I. Toker, L. Toldo, S. Tooze, S.A. Topisirovic, I. Torgersen, M.L. Torosantucci, L. Torriglia, A. Torrisi, M.R. Tournier, C. Towns, R. Trajkovic, V. Travassos, L.H. Triola, G. Tripathi, D.N. Trisciuoglio, D. Troncoso, R. Trougakos, I.P. Truttmann, A.C. Tsai, K.-J. Tschan, M.P. Tseng, Y.-H. Tsukuba, T. Tsung, A. Tsvetkov, A.S. Tu, S. Tuan, H.-Y. Tucci, M. Tumbarello, D.A. Turk, B. Turk, V. Turner, R.F.B. Tveita, A.A. Tyagi, S.C. Ubukata, M. Uchiyama, Y. Udelnow, A. Ueno, T. Umekawa, M. Umemiya-Shirafuji, R. Underwood, B.R. Ungermann, C. Ureshino, R.P. Ushioda, R. Uversky, V.N. Uzcátegui, N.L. Vaccari, T. Vaccaro, M.I. Váchová, L. Vakifahmetoglu-Norberg, H. Valdor, R. Valente, E.M. Vallette, F. Valverde, A.M. Van den Berghe, G. Van Den Bosch, L. van den Brink, G.R. van der Goot, F.G. van der Klei, I.J. van der Laan, L.J.W. van Doorn, W.G. van Egmond, M. van Golen, K.L. Van Kaer, L. Campagne, M.L. Vandenabeele, P. Vandenberghe, W. Vanhorebeek, I. Varela-Nieto, I. Vasconcelos, M.H. Vasko, R. Vavvas, D.G. Vega-Naredo, I. Velasco, G. Velentzas, A.D. Velentzas, P.D. Vellai, T. Vellenga, E. Vendelbo, M.H. Venkatachalam, K. Ventura, N. Ventura, S. Veras, P.S.T. Verdier, M. Vertessy, B.G. Viale, A. Vidal, M. Vieira, H.L.A. Vierstra, R.D. Vigneswaran, N. Vij, N. Vila, M. Villar, M. Villar, V.H. Villarroya, J. Vindis, C. Viola, G. Viscomi, M.T. Vitale, G. Vogl, D.T. Voitsekhovskaja, O.V. von Haefen, C. von Schwarzenberg, K. Voth, D.E. Vouret-Craviari, V. Vuori, K. Vyas, J.M. Waeber, C. Walker, C.L. Walker, M.J. Walter, J. Wan, L. Wan, X. Wang, B. Wang, C. Wang, C.-Y. Wang, C. Wang, C. Wang, C. Wang, D. Wang, F. Wang, F. Wang, G. Wang, H.-J. Wang, H. Wang, H.-G. Wang, H. Wang, H.-D. Wang, J. Wang, J. Wang, M. Wang, M.-Q. Wang, P.-Y. Wang, P. Wang, R.C. Wang, S. Wang, T.-F. Wang, X. Wang, X.-J. Wang, X.-W. Wang, X. Wang, X. Wang, Y. Wang, Y. Wang, Y. Wang, Y.-J. Wang, Y. Wang, Y. Wang, Y.T. Wang, Y. Wang, Z.-N. Wappner, P. Ward, C. Ward, D.M.V. Warnes, G. Watada, H. Watanabe, Y. Watase, K. Weaver, T.E. Weekes, C.D. Wei, J. Weide, T. Weihl, C.C. Weindl, G. Weis, S.N. Wen, L. Wen, X. Wen, Y. Westermann, B. Weyand, C.M. White, A.R. White, E. Whitton, J.L. Whitworth, A.J. Wiels, J. Wild, F. Wildenberg, M.E. Wileman, T. Wilkinson, D.S. Wilkinson, S. Willbold, D. Williams, C. Williams, K. Williamson, P.R. Winklhofer, K.F. Witkin, S.S. Wohlgemuth, S.E. Wollert, T. Wolvetang, E.J. Wong, E. Wong, G.W. Wong, R.W. Wong, V.K.W. Woodcock, E.A. Wright, K.L. Wu, C. Wu, D. Wu, G.S. Wu, J. Wu, J. Wu, M. Wu, M. Wu, S. Wu, W.K.K. Wu, Y. Wu, Z. Xavier, C.P.R. Xavier, R.J. Xia, G.-X. Xia, T. Xia, W. Xia, Y. Xiao, H. Xiao, J. Xiao, S. Xiao, W. Xie, C.-M. Xie, Z. Xie, Z. Xilouri, M. Xiong, Y. Xu, C. Xu, C. Xu, F. Xu, H. Xu, H. Xu, J. Xu, J. Xu, J. Xu, L. Xu, X. Xu, Y. Xu, Y. Xu, Z.-X. Xu, Z. Xue, Y. Yamada, T. Yamamoto, A. Yamanaka, K. Yamashina, S. Yamashiro, S. Yan, B. Yan, B. Yan, X. Yan, Z. Yanagi, Y. Yang, D.-S. Yang, J.-M. Yang, L. Yang, M. Yang, P.-M. Yang, P. Yang, Q. Yang, W. Yang, W.Y. Yang, X. Yang, Y. Yang, Y. Yang, Z. Yang, Z. Yao, M.-C. Yao, P.J. Yao, X. Yao, Z. Yao, Z. Yasui, L.S. Ye, M. Yedvobnick, B. Yeganeh, B. Yeh, E.S. Yeyati, P.L. Yi, F. Yi, L. Yin, X.-M. Yip, C.K. Yoo, Y.-M. Yoo, Y.H. Yoon, S.-Y. Yoshida, K.-I. Yoshimori, T. Young, K.H. Yu, H. Yu, J.J. Yu, J.-T. Yu, J. Yu, L. Yu, W.H. Yu, X.-F. Yu, Z. Yuan, J. Yuan, Z.-M. Yue, B.Y.J.T. Yue, J. Yue, Z. Zacks, D.N. Zacksenhaus, E. Zaffaroni, N. Zaglia, T. Zakeri, Z. Zecchini, V. Zeng, J. Zeng, M. Zeng, Q. Zervos, A.S. Zhang, D.D. Zhang, F. Zhang, G. Zhang, G.-C. Zhang, H. Zhang, H. Zhang, H. Zhang, J. Zhang, J. Zhang, J. Zhang, J.-P. Zhang, L. Zhang, L. Zhang, L. Zhang, M.-Y. Zhang, X. Zhang, X.D. Zhang, Y. Zhang, Y. Zhang, Y. Zhang, Y. Zhang, Y. Zhao, M. Zhao, W.-L. Zhao, X. Zhao, Y.G. Zhao, Y. Zhao, Y. Zhao, Y.-X. Zhao, Z. Zhao, Z.J. Zheng, D. Zheng, X.-L. Zheng, X. Zhivotovsky, B. Zhong, Q. Zhou, G.-Z. Zhou, G. Zhou, H. Zhou, S.-F. Zhou, X.-J. Zhu, H. Zhu, H. Zhu, W.-G. Zhu, W. Zhu, X.-F. Zhu, Y. Zhuang, S.-M. Zhuang, X. Ziparo, E. Zois, C.E. Zoladek, T. Zong, W.-X. Zorzano, A. Zughaier, S.M.

Published
2016

11. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Author

Klionsky, D.J. Abdelmohsen, K. Abe, A. Abedin, M.J. Abeliovich, H. Arozena, A.A. Adachi, H. Adams, C.M. Adams, P.D. Adeli, K. Adhihetty, P.J. Adler, S.G. Agam, G. Agarwal, R. Aghi, M.K. Agnello, M. Agostinis, P. Aguilar, P.V. Aguirre-Ghiso, J. Airoldi, E.M. Ait-Si-Ali, S. Akematsu, T. Akporiaye, E.T. Al-Rubeai, M. Albaiceta, G.M. Albanese, C. Albani, D. Albert, M.L. Aldudo, J. Algül, H. Alirezaei, M. Alloza, I. Almasan, A. Almonte-Beceril, M. Alnemri, E.S. Alonso, C. Altan-Bonnet, N. Altieri, D.C. Alvarez, S. Alvarez-Erviti, L. Alves, S. Amadoro, G. Amano, A. Amantini, C. Ambrosio, S. Amelio, I. Amer, A.O. Amessou, M. Amon, A. An, Z. Anania, F.A. Andersen, S.U. Andley, U.P. Andreadi, C.K. Andrieu-Abadie, N. Anel, A. Ann, D.K. Anoopkumar-Dukie, S. Antonioli, M. Aoki, H. Apostolova, N. Aquila, S. Aquilano, K. Araki, K. Arama, E. Aranda, A. Araya, J. Arcaro, A. Arias, E. Arimoto, H. Ariosa, A.R. Armstrong, J.L. Arnould, T. Arsov, I. Asanuma, K. Askanas, V. Asselin, E. Atarashi, R. Atherton, S.S. Atkin, J.D. Attardi, L.D. Auberger, P. Auburger, G. Aurelian, L. Autelli, R. Avagliano, L. Avantaggiati, M.L. Avrahami, L. Azad, N. Awale, S. Bachetti, T. Backer, J.M. Bae, D.-H. Bae, J.-S. Bae, O.-N. Bae, S.H. Baehrecke, E.H. Baek, S.-H. Baghdiguian, S. Bagniewska-Zadworna, A. Bai, H. Bai, J. Bai, X.-Y. Bailly, Y. Balaji, K.N. Balduini, W. Ballabio, A. Balzan, R. Banerjee, R. Bánhegyi, G. Bao, H. Barbeau, B. Barrachina, M.D. Barreiro, E. Bartel, B. Bartolomé, A. Bassham, D.C. Bassi, M.T. Bast, R.C., Jr. Basu, A. Batista, M.T. Batoko, H. Battino, M. Bauckman, K. Baumgarner, B.L. Bayer, K.U. Beale, R. Beaulieu, J.-F. Beck, G.R., Jr. Becker, C. Beckham, J.D. Bédard, P.-A. Bednarski, P.J. Begley, T.J. Behl, C. Behrends, C. Behrens, G.M.N. Behrns, K.E. Bejarano, E. Belaid, A. Belleudi, F. Bénard, G. Berchem, G. Bergamaschi, D. Bergami, M. Berkhout, B. Berliocchi, L. Bernard, A. Bernard, M. Bernassola, F. Bertolotti, A. Bess, A.S. Besteiro, S. Bettuzzi, S. Bhalla, S. Bhattacharyya, S. Bhutia, S.K. Biagosch, C. Bianchi, M.W. Biard-Piechaczyk, M. Billes, V. Bincoletto, C. Bingol, B. Bird, S.W. Bitoun, M. Bjedov, I. Blackstone, C. Blanc, L. Blanco, G.A. Blomhoff, H.K. Boada-Romero, E. Böckler, S. Boes, M. Boesze-Battaglia, K. Boise, L.H. Bolino, A. Boman, A. Bonaldo, P. Bordi, M. Bosch, J. Botana, L.M. Botti, J. Bou, G. Bouché, M. Bouchecareilh, M. Boucher, M.-J. Boulton, M.E. Bouret, S.G. Boya, P. Boyer-Guittaut, M. Bozhkov, P.V. Brady, N. Braga, V.M.M. Brancolini, C. Braus, G.H. Bravo-San-Pedro, J.M. Brennan, L.A. Bresnick, E.H. Brest, P. Bridges, D. Bringer, M.-A. Brini, M. Brito, G.C. Brodin, B. Brookes, P.S. Brown, E.J. Brown, K. Broxmeyer, H.E. Bruhat, A. Brum, P.C. Brumell, J.H. Brunetti-Pierri, N. Bryson-Richardson, R.J. Buch, S. Buchan, A.M. Budak, H. Bulavin, D.V. Bultman, S.J. Bultynck, G. Bumbasirevic, V. Burelle, Y. Burke, R.E. Burmeister, M. Bütikofer, P. Caberlotto, L. Cadwell, K. Cahova, M. Cai, D. Cai, J. Cai, Q. Calatayud, S. Camougrand, N. Campanella, M. Campbell, G.R. Campbell, M. Campello, S. Candau, R. Caniggia, I. Cantoni, L. Cao, L. Caplan, A.B. Caraglia, M. Cardinali, C. Cardoso, S.M. Carew, J.S. Carleton, L.A. Carlin, C.R. Carloni, S. Carlsson, S.R. Carmona-Gutierrez, D. Carneiro, L.A.M. Carnevali, O. Carra, S. Carrier, A. Carroll, B. Casas, C. Casas, J. Cassinelli, G. Castets, P. Castro-Obregon, S. Cavallini, G. Ceccherini, I. Cecconi, F. Cederbaum, A.I. Ceña, V. Cenci, S. Cerella, C. Cervia, D. Cetrullo, S. Chaachouay, H. Chae, H.-J. Chagin, A.S. Chai, C.-Y. Chakrabarti, G. Chamilos, G. Chan, E.Y.W. Chan, M.T.V. Chandra, D. Chandra, P. Chang, C.-P. Chang, R.C.-C. Chang, T.Y. Chatham, J.C. Chatterjee, S. Chauhan, S. Che, Y. Cheetham, M.E. Cheluvappa, R. Chen, C.-J. Chen, G. Chen, G.-C. Chen, G. Chen, H. Chen, J.W. Chen, J.-K. Chen, M. Chen, M. Chen, P. Chen, Q. Chen, Q. Chen, S.-D. Chen, S. Chen, S.S.-L. Chen, W. Chen, W.-J. Chen, W.Q. Chen, W. Chen, X. Chen, Y.-H. Chen, Y.-G. Chen, Y. Chen, Y. Chen, Y. Chen, Y.-J. Chen, Y.-Q. Chen, Y. Chen, Z. Chen, Z. Cheng, A. Cheng, C.H.K. Cheng, H. Cheong, H. Cherry, S. Chesney, J. Cheung, C.H.A. Chevet, E. Chi, H.C. Chi, S.-G. Chiacchiera, F. Chiang, H.-L. Chiarelli, R. Chiariello, M. Chieppa, M. Chin, L.-S. Chiong, M. Chiu, G.N.C. Cho, D.-H. Cho, S.-G. Cho, W.C. Cho, Y.-Y. Cho, Y.-S. Choi, A.M.K. Choi, E.-J. Choi, E.-K. Choi, J. Choi, M.E. Choi, S.-I. Chou, T.-F. Chouaib, S. Choubey, D. Choubey, V. Chow, K.-C. Chowdhury, K. Chu, C.T. Chuang, T.-H. Chun, T. Chung, H. Chung, T. Chung, Y.-L. Chwae, Y.-J. Cianfanelli, V. Ciarcia, R. Ciechomska, I.A. Ciriolo, M.R. Cirone, M. Claerhout, S. Clague, M.J. Clària, J. Clarke, P.G.H. Clarke, R. Clementi, E. Cleyrat, C. Cnop, M. Coccia, E.M. Cocco, T. Codogno, P. Coers, J. Cohen, E.E.W. Colecchia, D. Coletto, L. Coll, N.S. Colucci-Guyon, E. Comincini, S. Condello, M. Cook, K.L. Coombs, G.H. Cooper, C.D. Cooper, J.M. Coppens, I. Corasaniti, M.T. Corazzari, M. Corbalan, R. Corcelle-Termeau, E. Cordero, M.D. Corral-Ramos, C. Corti, O. Cossarizza, A. Costelli, P. Costes, S. Cotman, S.L. Coto-Montes, A. Cottet, S. Couve, E. Covey, L.R. Cowart, L.A. Cox, J.S. Coxon, F.P. Coyne, C.B. Cragg, M.S. Craven, R.J. Crepaldi, T. Crespo, J.L. Criollo, A. Crippa, V. Cruz, M.T. Cuervo, A.M. Cuezva, J.M. Cui, T. Cutillas, P.R. Czaja, M.J. Czyzyk-Krzeska, M.F. Dagda, R.K. Dahmen, U. Dai, C. Dai, W. Dai, Y. Dalby, K.N. Valle, L.D. Dalmasso, G. D'amelio, M. Damme, M. Darfeuille-Michaud, A. Dargemont, C. Darley-Usmar, V.M. Dasarathy, S. Dasgupta, B. Dash, S. Dass, C.R. Davey, H.M. Davids, L.M. Dávila, D. Davis, R.J. Dawson, T.M. Dawson, V.L. Daza, P. de Belleroche, J. de Figueiredo, P. de Figueiredo, R.C.B.Q. de la Fuente, J. De Martino, L. De Matteis, A. De Meyer, G.R.Y. De Milito, A. De Santi, M. de Souza, W. De Tata, V. De Zio, D. Debnath, J. Dechant, R. Decuypere, J.-P. Deegan, S. Dehay, B. Del Bello, B. Del Re, D.P. Delage-Mourroux, R. Delbridge, L.M.D. Deldicque, L. Delorme-Axford, E. Deng, Y. Dengjel, J. Denizot, M. Dent, P. Der, C.J. Deretic, V. Derrien, B. Deutsch, E. Devarenne, T.P. Devenish, R.J. Di Bartolomeo, S. Di Daniele, N. Di Domenico, F. Di Nardo, A. Di Paola, S. Di Pietro, A. Di Renzo, L. Di Antonio, A. Díaz-Araya, G. Díaz-Laviada, I. Diaz-Meco, M.T. Diaz-Nido, J. Dickey, C.A. Dickson, R.C. Diederich, M. Digard, P. Dikic, I. Dinesh-Kumar, S.P. Ding, C. Ding, W.-X. Ding, Z. Dini, L. Distler, J.H.W. Diwan, A. Djavaheri-Mergny, M. Dmytruk, K. Dobson, R.C.J. Doetsch, V. Dokladny, K. Dokudovskaya, S. Donadelli, M. Dong, X.C. Dong, X. Dong, Z. Donohue, T.M., Jr. Donohue-Jr, T.M. Doran, K.S. D'orazi, G. Dorn, G.W., II Dosenko, V. Dridi, S. Drucker, L. Du, J. Du, L.-L. Du, L. du Toit, A. Dua, P. Duan, L. Duann, P. Dubey, V.K. Duchen, M.R. Duchosal, M.A. Duez, H. Dugail, I. Dumit, V.I. Duncan, M.C. Dunlop, E.A. Dunn, W.A., Jr. Dupont, N. Dupuis, L. Durán, R.V. Durcan, T.M. Duvezin-Caubet, S. Duvvuri, U. Eapen, V. Ebrahimi-Fakhari, D. Echard, A. Eckhart, L. Edelstein, C.L. Edinger, A.L. Eichinger, L. Eisenberg, T. Eisenberg-Lerner, A. Eissa, N.T. El-Deiry, W.S. El-Khoury, V. Elazar, Z. Eldar-Finkelman, H. Elliott, C.J.H. Emanuele, E. Emmenegger, U. Engedal, N. Engelbrecht, A.-M. Engelender, S. Enserink, J.M. Erdmann, R. Erenpreisa, J. Eri, R. Eriksen, J.L. Erman, A. Escalante, R. Eskelinen, E.-L. Espert, L. Esteban-Martínez, L. Evans, T.J. Fabri, M. Fabrias, G. Fabrizi, C. Facchiano, A. Færgeman, N.J. Faggioni, A. Fairlie, W.D. Fan, C. Fan, D. Fan, J. Fang, S. Fanto, M. Fanzani, A. Farkas, T. Faure, M. Favier, F.B. Fearnhead, H. Federici, M. Fei, E. Felizardo, T.C. Feng, H. Feng, Y. Feng, Y. Ferguson, T.A. Fernández, Á.F. Fernandez-Barrena, M.G. Fernandez-Checa, J.C. Fernández-López, A. Fernandez-Zapico, M.E. Feron, O. Ferraro, E. Ferreira-Halder, C.V. Fesus, L. Feuer, R. Fiesel, F.C. Filippi-Chiela, E.C. Filomeni, G. Fimia, G.M. Fingert, J.H. Finkbeiner, S. Finkel, T. Fiorito, F. Fisher, P.B. Flajolet, M. Flamigni, F. Florey, O. Florio, S. Floto, R.A. Folini, M. Follo, C. Fon, E.A. Fornai, F. Fortunato, F. Fraldi, A. Franco, R. Francois, A. François, A. Frankel, L.B. Fraser, I.D.C. Frey, N. Freyssenet, D.G. Frezza, C. Friedman, S.L. Frigo, D.E. Fu, D. Fuentes, J.M. Fueyo, J. Fujitani, Y. Fujiwara, Y. Fujiya, M. Fukuda, M. Fulda, S. Fusco, C. Gabryel, B. Gaestel, M. Gailly, P. Gajewska, M. Galadari, S. Galili, G. Galindo, I. Galindo, M.F. Galliciotti, G. Galluzzi, L. Galluzzi, L. Galy, V. Gammoh, N. Gandy, S. Ganesan, A.K. Ganesan, S. Ganley, I.G. Gannagé, M. Gao, F.-B. Gao, F. Gao, J.-X. Nannig, L.G. Véscovi, E.G. Garcia-Macía, M. Garcia-Ruiz, C. Garg, A.D. Garg, P.K. Gargini, R. Gassen, N.C. Gatica, D. Gatti, E. Gavard, J. Gavathiotis, E. Ge, L. Ge, P. Ge, S. Gean, P.-W. Gelmetti, V. Genazzani, A.A. Geng, J. Genschik, P. Gerner, L. Gestwicki, J.E. Gewirtz, D.A. Ghavami, S. Ghigo, E. Ghosh, D. Giammarioli, A.M. Giampieri, F. Giampietri, C. Giatromanolaki, A. Gibbings, D.J. Gibellini, L. Gibson, S.B. Ginet, V. Giordano, A. Giorgini, F. Giovannetti, E. Girardin, S.E. Gispert, S. Giuliano, S. Gladson, C.L. Glavic, A. Gleave, M. Godefroy, N. Gogal, R.M., Jr. Gokulan, K. Goldman, G.H. Goletti, D. Goligorsky, M.S. Gomes, A.V. Gomes, L.C. Gomez, H. Gomez-Manzano, C. Gómez-Sánchez, R. Gonçalves, D.A.P. Goncu, E. Gong, Q. Gongora, C. Gonzalez, C.B. Gonzalez-Alegre, P. Gonzalez-Cabo, P. González-Polo, R.A. Goping, I.S. Gorbea, C. Gorbunov, N.V. Goring, D.R. Gorman, A.M. Gorski, S.M. Goruppi, S. Goto-Yamada, S. Gotor, C. Gottlieb, R.A. Gozes, I. Gozuacik, D. Graba, Y. Graef, M. Granato, G.E. Grant, G.D. Grant, S. Gravina, G.L. Green, D.R. Greenhough, A. Greenwood, M.T. Grimaldi, B. Gros, F. Grose, C. Groulx, J.-F. Gruber, F. Grumati, P. Grune, T. Guan, J.-L. Guan, K.-L. Guerra, B. Guillen, C. Gulshan, K. Gunst, J. Guo, C. Guo, L. Guo, M. Guo, W. Guo, X.-G. Gust, A.A. Gustafsson, Å.B. Gutierrez, E. Gutierrez, M.G. Gwak, H.-S. Haas, A. Haber, J.E. Hadano, S. Hagedorn, M. Hahn, D.R. Halayko, A.J. Hamacher-Brady, A. Hamada, K. Hamai, A. Hamann, A. Hamasaki, M. Hamer, I. Hamid, Q. Hammond, E.M. Han, F. Han, W. Handa, J.T. Hanover, J.A. Hansen, M. Harada, M. Harhaji-Trajkovic, L. Harper, J.W. Harrath, A.H. Harris, A.L. Harris, J. Hasler, U. Hasselblatt, P. Hasui, K. Hawley, R.G. Hawley, T.S. He, C. He, C.Y. He, F. He, G. He, R.-R. He, X.-H. He, Y.-W. He, Y.-Y. Heath, J.K. Hébert, M.-J. Heinzen, R.A. Helgason, G.V. Hensel, M. Henske, E.P. Her, C. Herman, P.K. Hernández, A. Hernandez, C. Hernández-Tiedra, S. Hetz, C. Hiesinger, P.R. Higaki, K. Hilfiker, S. Hill, B.G. Hill, J.A. Hill, W.D. Hino, K. Hofius, D. Hofman, P. Höglinger, G.U. Höhfeld, J. Holz, M.K. Hong, Y. Hood, D.A. Hoozemans, J.J.M. Hoppe, T. Hsu, C. Hsu, C.-Y. Hsu, L.-C. Hu, D. Hu, G. Hu, H.-M. Hu, H. Hu, M.C. Hu, Y.-C. Hu, Z.-W. Hua, F. Hua, Y. Huang, C. Huang, H.-L. Huang, K.-H. Huang, K.-Y. Huang, S. Huang, S. Huang, W.-P. Huang, Y.-R. Huang, Y. Huang, Y. Huber, T.B. Huebbe, P. Huh, W.-K. Hulmi, J.J. Hur, G.M. Hurley, J.H. Husak, Z. Hussain, S.N.A. Hussain, S. Hwang, J.J. Hwang, S. Hwang, T.I.S. Ichihara, A. Imai, Y. Imbriano, C. Inomata, M. Into, T. Iovane, V. Iovanna, J.L. Iozzo, R.V. Ip, N.Y. Irazoqui, J.E. Iribarren, P. Isaka, Y. Isakovic, A.J. Ischiropoulos, H. Isenberg, J.S. Ishaq, M. Ishida, H. Ishii, I. Ishmael, J.E. Isidoro, C. Isobe, K.-I. Isono, E. Issazadeh-Navikas, S. Itahana, K. Itakura, E. Ivanov, A.I. Iyer, A.K.V. Izquierdo, J.M. Izumi, Y. Izzo, V. Jäättelä, M. Jaber, N. Jackson, D.J. Jackson, W.T. Jacob, T.G. Jacques, T.S. Jagannath, C. Jain, A. Jana, N.R. Jang, B.K. Jani, A. Janji, B. Jannig, P.R. Jansson, P.J. Jean, S. Jendrach, M. Jeon, J.-H. Jessen, N. Jeung, E.-B. Jia, K. Jia, L. Jiang, H. Jiang, H. Jiang, L. Jiang, T. Jiang, X. Jiang, X. Jiang, Y. Jiang, Y. Jiménez, A. Jin, C. Jin, H. Jin, L. Jin, M. Jin, S. Jinwal, U.K. Jo, E.-K. Johansen, T. Johnson, D.E. Johnson, G.V.W. Johnson, J.D. Jonasch, E. Jones, C. Joosten, L.A.B. Jordan, J. Joseph, A.-M. Joseph, B. Joubert, A.M. Ju, D. Ju, J. Juan, H.-F. Juenemann, K. Juhász, G. Jung, H.S. Jung, J.U. Jung, Y.-K. Jungbluth, H. Justice, M.J. Jutten, B. Kaakoush, N.O. Kaarniranta, K. Kaasik, A. Kabuta, T. Kaeffer, B. Kågedal, K. Kahana, A. Kajimura, S. Kakhlon, O. Kalia, M. Kalvakolanu, D.V. Kamada, Y. Kambas, K. Kaminskyy, V.O. Kampinga, H.H. Kandouz, M. Kang, C. Kang, R. Kang, T.-C. Kanki, T. Kanneganti, T.-D. Kanno, H. Kanthasamy, A.G. Kantorow, M. Kaparakis-Liaskos, M. Kapuy, O. Karantza, V. Karim, M.R. Karmakar, P. Kaser, A. Kaushik, S. Kawula, T. Kaynar, A.M. Ke, P.-Y. Ke, Z.-J. Kehrl, J.H. Keller, K.E. Kemper, J.K. Kenworthy, A.K. Kepp, O. Kern, A. Kesari, S. Kessel, D. Ketteler, R. Kettelhut, I.C. Khambu, B. Khan, M.M. Khandelwal, V.K.M. Khare, S. Kiang, J.G. Kiger, A.A. Kihara, A. Kim, A.L. Kim, C.H. Kim, D.R. Kim, D.-H. Kim, E.K. Kim, H.Y. Kim, H.-R. Kim, J.-S. Kim, J.H. Kim, J.C. Kim, J.H. Kim, K.W. Kim, M.D. Kim, M.-M. Kim, P.K. Kim, S.W. Kim, S.-Y. Kim, Y.-S. Kim, Y. Kimchi, A. Kimmelman, A.C. Kimura, T. King, J.S. Kirkegaard, K. Kirkin, V. Kirshenbaum, L.A. Kishi, S. Kitajima, Y. Kitamoto, K. Kitaoka, Y. Kitazato, K. Kley, R.A. Klimecki, W.T. Klinkenberg, M. Klucken, J. Knævelsrud, H. Knecht, E. Knuppertz, L. Ko, J.-L. Kobayashi, S. Koch, J.C. Koechlin-Ramonatxo, C. Koenig, U. Koh, Y.H. Köhler, K. Kohlwein, S.D. Koike, M. Komatsu, M. Kominami, E. Kong, D. Kong, H.J. Konstantakou, E.G. Kopp, B.T. Korcsmaros, T. Korhonen, L. Korolchuk, V.I. Koshkina, N.V. Kou, Y. Koukourakis, M.I. Koumenis, C. Kovács, A.L. Kovács, T. Kovacs, W.J. Koya, D. Kraft, C. Krainc, D. Kramer, H. Kravic-Stevovic, T. Krek, W. Kretz-Remy, C. Krick, R. Krishnamurthy, M. Kriston-Vizi, J. Kroemer, G. Kruer, M.C. Kruger, R. Ktistakis, N.T. Kuchitsu, K. Kuhn, C. Kumar, A.P. Kumar, A. Kumar, A. Kumar, D. Kumar, D. Kumar, R. Kumar, S. Kundu, M. Kung, H.-J. Kuno, A. Kuo, S.-H. Kuret, J. Kurz, T. Kwok, T. Kwon, T.K. Kwon, Y.T. Kyrmizi, I. La Spada, A.R. Lafont, F. Lahm, T. Lakkaraju, A. Lam, T. Lamark, T. Lancel, S. Landowski, T.H. Lane, D.J.R. Lane, J.D. Lanzi, C. Lapaquette, P. Lapierre, L.R. Laporte, J. Laukkarinen, J. Laurie, G.W. Lavandero, S. Lavie, L. Lavoie, M.J. Law, B.Y.K. Law, H.K.-W. Law, K.B. Layfield, R. Lazo, P.A. Le Cam, L. Le Roch, K.G. Le Stunff, H. Leardkamolkarn, V. Lecuit, M. Lee, B.-H. Lee, C.-H. Lee, E.F. Lee, G.M. Lee, H.-J. Lee, H. Lee, J.K. Lee, J. Lee, J.-H. Lee, J.H. Lee, M. Lee, M.-S. Lee, P.J. Lee, S.W. Lee, S.-J. Lee, S.-J. Lee, S.Y. Lee, S.H. Lee, S.S. Lee, S.-J. Lee, S. Lee, Y.-R. Lee, Y.J. Lee, Y.H. Leeuwenburgh, C. Lefort, S. Legouis, R. Lei, J. Lei, Q.-Y. Leib, D.A. Leibowitz, G. Lekli, I. Lemaire, S.D. Lemasters, J.J. Lemberg, M.K. Lemoine, A. Leng, S. Lenz, G. Lenzi, P. Lerman, L.O. Barbato, D.L. Leu, J.I.J. Leung, H.Y. Levine, B. Lewis, P.A. Lezoualch, F. Li, C. Li, F. Li, F.-J. Li, J. Li, K. Li, L. Li, M. Li, Q. Li, R. Li, S. Li, W. Li, X. Li, Y. Lian, J. Liang, C. Liang, Q. Liao, Y. Liberal, J. Liberski, P.P. Lie, P. Lieberman, A.P. Lim, H.J. Lim, K.-L. Lim, K. Lima, R.T. Lin, C.-S. Lin, C.-F. Lin, F. Lin, F. Lin, F.-C. Lin, K. Lin, K.-H. Lin, P.-H. Lin, T. Lin, W.-W. Lin, Y.-S. Lin, Y. Linden, R. Lindholm, D. Lindqvist, L.M. Lingor, P. Linkermann, A. Liotta, L.A. Lipinski, M.M. Lira, V.A. Lisanti, M.P. Liton, P.B. Liu, B. Liu, C. Liu, C.-F. Liu, F. Liu, H.-J. Liu, J. Liu, J.-J. Liu, J.-L. Liu, K. Liu, L. Liu, L. Liu, Q. Liu, R.-Y. Liu, S. Liu, S. Liu, W. Liu, X.-D. Liu, X. Liu, X.-H. Liu, X. Liu, X. Liu, X. Liu, Y. Liu, Y. Liu, Z. Liu, Z. Liuzzi, J.P. Lizard, G. Ljujic, M. Lodhi, I.J. Logue, S.E. Lokeshwar, B.L. Long, Y.C. Lonial, S. Loos, B. López-Otín, C. López-Vicario, C. Lorente, M. Lorenzi, P.L. Lõrincz, P. Los, M. Lotze, M.T. Lovat, P.E. Lu, B. Lu, B. Lu, J. Lu, Q. Lu, S.-M. Lu, S. Lu, Y. Luciano, F. Luckhart, S. Lucocq, J.M. Ludovico, P. Lugea, A. Lukacs, N.W. Lum, J.J. Lund, A.H. Luo, H. Luo, J. Luo, S. Luparello, C. Lyons, T. Ma, J. Ma, Y. Ma, Y. Ma, Z. Machado, J. Machado-Santelli, G.M. Macian, F. MacIntosh, G.C. MacKeigan, J.P. Macleod, K.F. MacMicking, J.D. MacMillan-Crow, L.A. Madeo, F. Madesh, M. Madrigal-Matute, J. Maeda, A. Maeda, T. Maegawa, G. Maellaro, E. Maes, H. Magariños, M. Maiese, K. Maiti, T.K. Maiuri, L. Maiuri, M.C. Maki, C.G. Malli, R. Malorni, W. Maloyan, A. Mami-Chouaib, F. Man, N. Mancias, J.D. Mandelkow, E.-M. Mandell, M.A. Manfredi, A.A. Manié, S.N. Manzoni, C. Mao, K. Mao, Z. Mao, Z.-W. Marambaud, P. Marconi, A.M. Marelja, Z. Marfe, G. Margeta, M. Margittai, E. Mari, M. Mariani, F.V. Marin, C. Marinelli, S. Mariño, G. Markovic, I. Marquez, R. Martelli, A.M. Martens, S. Martin, K.R. Martin, S.J. Martin, S. Martin-Acebes, M.A. Martín-Sanz, P. Martinand-Mari, C. Martinet, W. Martinez, J. Martinez-Lopez, N. Martinez-Outschoorn, U. Martínez-Velázquez, M. Martinez-Vicente, M. Martins, W.K. Mashima, H. Mastrianni, J.A. Matarese, G. Matarrese, P. Mateo, R. Matoba, S. Matsumoto, N. Matsushita, T. Matsuura, A. Matsuzawa, T. Mattson, M.P. Matus, S. Maugeri, N. Mauvezin, C. Mayer, A. Maysinger, D. Mazzolini, G.D. McBrayer, M.K. McCall, K. McCormick, C. McInerney, G.M. McIver, S.C. McKenna, S. McMahon, J.J. McNeish, I.A. Mechta-Grigoriou, F. Medema, J.P. Medina, D.L. Megyeri, K. Mehrpour, M. Mehta, J.L. Mei, Y. Meier, U.-C. Meijer, A.J. Meléndez, A. Melino, G. Melino, S. de Melo, E.J.T. Mena, M.A. Meneghini, M.D. Menendez, J.A. Menezes, R. Meng, L. Meng, L.-H. Meng, S. Menghini, R. Menko, A.S. Menna-Barreto, R.F.S. Menon, M.B. Meraz-Ríos, M.A. Merla, G. Merlini, L. Merlot, A.M. Meryk, A. Meschini, S. Meyer, J.N. Mi, M.-T. Miao, C.-Y. Micale, L. Michaeli, S. Michiels, C. Migliaccio, A.R. Mihailidou, A.S. Mijaljica, D. Mikoshiba, K. Milan, E. Miller-Fleming, L. Mills, G.B. Mills, I.G. Minakaki, G. Minassian, B.A. Ming, X.-F. Minibayeva, F. Minina, E.A. Mintern, J.D. Minucci, S. Miranda-Vizuete, A. Mitchell, C.H. Miyamoto, S. Miyazawa, K. Mizushima, N. Mnich, K. Mograbi, B. Mohseni, S. Moita, L.F. Molinari, M. Molinari, M. Møller, A.B. Mollereau, B. Mollinedo, F. Mongillo, M. Monick, M.M. Montagnaro, S. Montell, C. Moore, D.J. Moore, M.N. Mora-Rodriguez, R. Moreira, P.I. Morel, E. Morelli, M.B. Moreno, S. Morgan, M.J. Moris, A. Moriyasu, Y. Morrison, J.L. Morrison, L.A. Morselli, E. Moscat, J. Moseley, P.L. Mostowy, S. Motori, E. Mottet, D. Mottram, J.C. Moussa, C.E.-H. Mpakou, V.E. Mukhtar, H. Levy, J.M.M. Muller, S. Muñoz-Moreno, R. Muñoz-Pinedo, C. Münz, C. Murphy, M.E. Murray, J.T. Murthy, A. Mysorekar, I.U. Nabi, I.R. Nabissi, M. Nader, G.A. Nagahara, Y. Nagai, Y. Nagata, K. Nagelkerke, A. Nagy, P. Naidu, S.R. Nair, S. Nakano, H. Nakatogawa, H. Nanjundan, M. Napolitano, G. Naqvi, N.I. Nardacci, R. Narendra, D.P. Narita, M. Nascimbeni, A.C. Natarajan, R. Navegantes, L.C. Nawrocki, S.T. Nazarko, T.Y. Nazarko, V.Y. Neill, T. Neri, L.M. Netea, M.G. Netea-Maier, R.T. Neves, B.M. Ney, P.A. Nezis, I.P. Nguyen, H.T.T. Nguyen, H.P. Nicot, A.-S. Nilsen, H. Nilsson, P. Nishimura, M. Nishino, I. Niso-Santano, M. Niu, H. Nixon, R.A. Njar, V.C.O. Noda, T. Noegel, A.A. Nolte, E.M. Norberg, E. Norga, K.K. Noureini, S.K. Notomi, S. Notterpek, L. Nowikovsky, K. Nukina, N. Nürnberger, T. O'donnell, V.B. O'donovan, T. O'dwyer, P.J. Oehme, I. Oeste, C.L. Ogawa, M. Ogretmen, B. Ogura, Y. Oh, Y.J. Ohmuraya, M. Ohshima, T. Ojha, R. Okamoto, K. Okazaki, T. Oliver, F.J. Ollinger, K. Olsson, S. Orban, D.P. Ordonez, P. Orhon, I. Orosz, L. O'rourke, E.J. Orozco, H. Ortega, A.L. Ortona, E. Osellame, L.D. Oshima, J. Oshima, S. Osiewacz, H.D. Otomo, T. Otsu, K. Ou, J.-H.J. Outeiro, T.F. Ouyang, D.-Y. Ouyang, H. Overholtzer, M. Ozbun, M.A. Ozdinler, P.H. Ozpolat, B. Pacelli, C. Paganetti, P. Page, G. Pages, G. Pagnini, U. Pajak, B. Pak, S.C. Pakos-Zebrucka, K. Pakpour, N. Palková, Z. Palladino, F. Pallauf, K. Pallet, N. Palmieri, M. Paludan, S.R. Palumbo, C. Palumbo, S. Pampliega, O. Pan, H. Pan, W. Panaretakis, T. Pandey, A. Pantazopoulou, A. Papackova, Z. Papademetrio, D.L. Papassideri, I. Papini, A. Parajuli, N. Pardo, J. Parekh, V.V. Parenti, G. Park, J.-I. Park, J. Park, O.K. Parker, R. Parlato, R. Parys, J.B. Parzych, K.R. Pasquet, J.-M. Pasquier, B. Pasumarthi, K.B.S. Patterson, C. Pattingre, S. Pattison, S. Pause, A. Pavenstädt, H. Pavone, F. Pedrozo, Z. Peña, F.J. Peñalva, M.A. Pende, M. Peng, J. Penna, F. Penninger, J.M. Pensalfini, A. Pepe, S. Pereira, G.J.S. Pereira, P.C. de la Cruz, V.P. Pérez-Pérez, M.E. Pérez-Rodríguez, D. Pérez-Sala, D. Perier, C. Perl, A. Perlmutter, D.H. Perrotta, I. Pervaiz, S. Pesonen, M. Pessin, J.E. Peters, G.J. Petersen, M. Petrache, I. Petrof, B.J. Petrovski, G. Phang, J.M. Piacentini, M. Pierdominici, M. Pierre, P. Pierrefite-Carle, V. Pietrocola, F. Pimentel-Muiños, F.X. Pinar, M. Pineda, B. Pinkas-Kramarski, R. Pinti, M. Pinton, P. Piperdi, B. Piret, J.M. Platanias, L.C. Platta, H.W. Plowey, E.D. Pöggeler, S. Poirot, M. Polčic, P. Poletti, A. Poon, A.H. Popelka, H. Popova, B. Poprawa, I. Poulose, S.M. Poulton, J. Powers, S.K. Powers, T. Pozuelo-Rubio, M. Prak, K. Prange, R. Prescott, M. Priault, M. Prince, S. Proia, R.L. Proikas-Cezanne, T. Prokisch, H. Promponas, V.J. Przyklenk, K. Puertollano, R. Pugazhenthi, S. Puglielli, L. Pujol, A. Puyal, J. Pyeon, D. Qi, X. Qian, W.-B. Qin, Z.-H. Qiu, Y. Qu, Z. Quadrilatero, J. Quinn, F. Raben, N. Rabinowich, H. Radogna, F. Ragusa, M.J. Rahmani, M. Raina, K. Ramanadham, S. Ramesh, R. Rami, A. Randall-Demllo, S. Randow, F. Rao, H. Rao, V.A. Rasmussen, B.B. Rasse, T.M. Ratovitski, E.A. Rautou, P.-E. Ray, S.K. Razani, B. Reed, B.H. Reggiori, F. Rehm, M. Reichert, A.S. Rein, T. Reiner, D.J. Reits, E. Ren, J. Ren, X. Renna, M. Reusch, J.E.B. Revuelta, J.L. Reyes, L. Rezaie, A.R. Richards, R.I. Richardson, R. Richetta, C. Riehle, M.A. Rihn, B.H. Rikihisa, Y. Riley, B.E. Rimbach, G. Rippo, M.R. Ritis, K. Rizzi, F. Rizzo, E. Roach, P.J. Robbins, J. Roberge, M. Roca, G. Roccheri, M.C. Rocha, S. Rodrigues, C.M.P. Rodríguez, C.I. de Cordoba, S.R. Rodriguez-Muela, N. Roelofs, J. Rogov, V.V. Rohn, T.T. Rohrer, B. Romanelli, D. Romani, L. Romano, P.S. Roncero, M.I.G. Rosa, J.L. Rosello, A. Rosen, K.V. Rosenstiel, P. Rost-Roszkowska, M. Roth, K.A. Roué, G. Rouis, M. Rouschop, K.M. Ruan, D.T. Ruano, D. Rubinsztein, D.C. Rucker, E.B., III Rudich, A. Rudolf, E. Rudolf, R. Ruegg, M.A. Ruiz-Roldan, C. Ruparelia, A.A. Rusmini, P. Russ, D.W. Russo, G.L. Russo, G. Russo, R. Rusten, T.E. Ryabovol, V. Ryan, K.M. Ryter, S.W. Sabatini, D.M. Sacher, M. Sachse, C. Sack, M.N. Sadoshima, J. Saftig, P. Sagi-Eisenberg, R. Sahni, S. Saikumar, P. Saito, T. Saitoh, T. Sakakura, K. Sakoh-Nakatogawa, M. Sakuraba, Y. Salazar-Roa, M. Salomoni, P. Saluja, A.K. Salvaterra, P.M. Salvioli, R. Samali, A. Sanchez, A.M.J. Sánchez-Alcázar, J.A. Sanchez-Prieto, R. Sandri, M. Sanjuan, M.A. Santaguida, S. Santambrogio, L. Santoni, G. Dos Santos, C.N. Saran, S. Sardiello, M. Sargent, G. Sarkar, P. Sarkar, S. Sarrias, M.R. Sarwal, M.M. Sasakawa, C. Sasaki, M. Sass, M. Sato, K. Sato, M. Satriano, J. Savaraj, N. Saveljeva, S. Schaefer, L. Schaible, U.E. Scharl, M. Schatzl, H.M. Schekman, R. Scheper, W. Schiavi, A. Schipper, H.M. Schmeisser, H. Schmidt, J. Schmitz, I. Schneider, B.E. Schneider, E.M. Schneider, J.L. Schon, E.A. Schönenberger, M.J. Schönthal, A.H. Schorderet, D.F. Schröder, B. Schuck, S. Schulze, R.J. Schwarten, M. Schwarz, T.L. Sciarretta, S. Scotto, K. Scovassi, A.I. Screaton, R.A. Screen, M. Seca, H. Sedej, S. Segatori, L. Segev, N. Seglen, P.O. Seguí-Simarro, J.M. Segura-Aguilar, J. Seiliez, I. Seki, E. Sell, C. Semenkovich, C.F. Semenza, G.L. Sen, U. Serra, A.L. Serrano-Puebla, A. Sesaki, H. Setoguchi, T. Settembre, C. Shacka, J.J. Shajahan-Haq, A.N. Shapiro, I.M. Sharma, S. She, H. Shen, C.-K.J. Shen, C.-C. Shen, H.-M. Shen, S. Shen, W. Sheng, R. Sheng, X. Sheng, Z.-H. Shepherd, T.G. Shi, J. Shi, Q. Shi, Q. Shi, Y. Shibutani, S. Shibuya, K. Shidoji, Y. Shieh, J.-J. Shih, C.-M. Shimada, Y. Shimizu, S. Shin, D.W. Shinohara, M.L. Shintani, M. Shintani, T. Shioi, T. Shirabe, K. Shiri-Sverdlov, R. Shirihai, O. Shore, G.C. Shu, C.-W. Shukla, D. Sibirny, A.A. Sica, V. Sigurdson, C.J. Sigurdsson, E.M. Sijwali, P.S. Sikorska, B. Silveira, W.A. Silvente-Poirot, S. Silverman, G.A. Simak, J. Simmet, T. Simon, A.K. Simon, H.-U. Simone, C. Simons, M. Simonsen, A. Singh, R. Singh, S.V. Singh, S.K. Sinha, D. Sinha, S. Sinicrope, F.A. Sirko, A. Sirohi, K. Sishi, B.J.N. Sittler, A. Siu, P.M. Sivridis, E. Skwarska, A. Slack, R. Slaninová, I. Slavov, N. Smaili, S.S. Smalley, K.S.M. Smith, D.R. Soenen, S.J. Soleimanpour, S.A. Solhaug, A. Somasundaram, K. Son, J.H. Sonawane, A. Song, C. Song, F. Song, H.K. Song, J.-X. Song, W. Soo, K.Y. Sood, A.K. Soong, T.W. Soontornniyomkij, V. Sorice, M. Sotgia, F. Soto-Pantoja, D.R. Sotthibundhu, A. Sousa, M.J. Spaink, H.P. Span, P.N. Spang, A. Sparks, J.D. Speck, P.G. Spector, S.A. Spies, C.D. Springer, W. Clair, D.S. Stacchiotti, A. Staels, B. Stang, M.T. Starczynowski, D.T. Starokadomskyy, P. Steegborn, C. Steele, J.W. Stefanis, L. Steffan, J. Stellrecht, C.M. Stenmark, H. Stepkowski, T.M. Stern, S.T. Stevens, C. Stockwell, B.R. Stoka, V. Storchova, Z. Stork, B. Stratoulias, V. Stravopodis, D.J. Strnad, P. Strohecker, A.M. Ström, A.-L. Stromhaug, P. Stulik, J. Su, Y.-X. Su, Z. Subauste, C.S. Subramaniam, S. Sue, C.M. Suh, S.W. Sui, X. Sukseree, S. Sulzer, D. Sun, F.-L. Sun, J. Sun, J. Sun, S.-Y. Sun, Y. Sun, Y. Sun, Y. Sundaramoorthy, V. Sung, J. Suzuki, H. Suzuki, K. Suzuki, N. Suzuki, T. Suzuki, Y.J. Swanson, M.S. Swanton, C. Swärd, K. Swarup, G. Sweeney, S.T. Sylvester, P.W. Szatmari, Z. Szegezdi, E. Szlosarek, P.W. Taegtmeyer, H. Tafani, M. Taillebourg, E. Tait, S.W.G. Takacs-Vellai, K. Takahashi, Y. Takáts, S. Takemura, G. Takigawa, N. Talbot, N.J. Tamagno, E. Tamburini, J. Tan, C.-P. Tan, L. Tan, M.L. Tan, M. Tan, Y.-J. Tanaka, K. Tanaka, M. Tang, D. Tang, D. Tang, G. Tanida, I. Tanji, K. Tannous, B.A. Tapia, J.A. Tasset-Cuevas, I. Tatar, M. Tavassoly, I. Tavernarakis, N. Taylor, A. Taylor, G.S. Taylor, G.A. Taylor, J.P. Taylor, M.J. Tchetina, E.V. Tee, A.R. Teixeira-Clerc, F. Telang, S. Tencomnao, T. Teng, B.-B. Teng, R.-J. Terro, F. Tettamanti, G. Theiss, A.L. Theron, A.E. Thomas, K.J. Thomé, M.P. Thomes, P.G. Thorburn, A. Thorner, J. Thum, T. Thumm, M. Thurston, T.L.M. Tian, L. Till, A. Ting, J.P.-Y. Ting, J.P.Y. Titorenko, V.I. Toker, L. Toldo, S. Tooze, S.A. Topisirovic, I. Torgersen, M.L. Torosantucci, L. Torriglia, A. Torrisi, M.R. Tournier, C. Towns, R. Trajkovic, V. Travassos, L.H. Triola, G. Tripathi, D.N. Trisciuoglio, D. Troncoso, R. Trougakos, I.P. Truttmann, A.C. Tsai, K.-J. Tschan, M.P. Tseng, Y.-H. Tsukuba, T. Tsung, A. Tsvetkov, A.S. Tu, S. Tuan, H.-Y. Tucci, M. Tumbarello, D.A. Turk, B. Turk, V. Turner, R.F.B. Tveita, A.A. Tyagi, S.C. Ubukata, M. Uchiyama, Y. Udelnow, A. Ueno, T. Umekawa, M. Umemiya-Shirafuji, R. Underwood, B.R. Ungermann, C. Ureshino, R.P. Ushioda, R. Uversky, V.N. Uzcátegui, N.L. Vaccari, T. Vaccaro, M.I. Váchová, L. Vakifahmetoglu-Norberg, H. Valdor, R. Valente, E.M. Vallette, F. Valverde, A.M. Van den Berghe, G. Van Den Bosch, L. van den Brink, G.R. van der Goot, F.G. van der Klei, I.J. van der Laan, L.J.W. van Doorn, W.G. van Egmond, M. van Golen, K.L. Van Kaer, L. Campagne, M.L. Vandenabeele, P. Vandenberghe, W. Vanhorebeek, I. Varela-Nieto, I. Vasconcelos, M.H. Vasko, R. Vavvas, D.G. Vega-Naredo, I. Velasco, G. Velentzas, A.D. Velentzas, P.D. Vellai, T. Vellenga, E. Vendelbo, M.H. Venkatachalam, K. Ventura, N. Ventura, S. Veras, P.S.T. Verdier, M. Vertessy, B.G. Viale, A. Vidal, M. Vieira, H.L.A. Vierstra, R.D. Vigneswaran, N. Vij, N. Vila, M. Villar, M. Villar, V.H. Villarroya, J. Vindis, C. Viola, G. Viscomi, M.T. Vitale, G. Vogl, D.T. Voitsekhovskaja, O.V. von Haefen, C. von Schwarzenberg, K. Voth, D.E. Vouret-Craviari, V. Vuori, K. Vyas, J.M. Waeber, C. Walker, C.L. Walker, M.J. Walter, J. Wan, L. Wan, X. Wang, B. Wang, C. Wang, C.-Y. Wang, C. Wang, C. Wang, C. Wang, D. Wang, F. Wang, F. Wang, G. Wang, H.-J. Wang, H. Wang, H.-G. Wang, H. Wang, H.-D. Wang, J. Wang, J. Wang, M. Wang, M.-Q. Wang, P.-Y. Wang, P. Wang, R.C. Wang, S. Wang, T.-F. Wang, X. Wang, X.-J. Wang, X.-W. Wang, X. Wang, X. Wang, Y. Wang, Y. Wang, Y. Wang, Y.-J. Wang, Y. Wang, Y. Wang, Y.T. Wang, Y. Wang, Z.-N. Wappner, P. Ward, C. Ward, D.M.V. Warnes, G. Watada, H. Watanabe, Y. Watase, K. Weaver, T.E. Weekes, C.D. Wei, J. Weide, T. Weihl, C.C. Weindl, G. Weis, S.N. Wen, L. Wen, X. Wen, Y. Westermann, B. Weyand, C.M. White, A.R. White, E. Whitton, J.L. Whitworth, A.J. Wiels, J. Wild, F. Wildenberg, M.E. Wileman, T. Wilkinson, D.S. Wilkinson, S. Willbold, D. Williams, C. Williams, K. Williamson, P.R. Winklhofer, K.F. Witkin, S.S. Wohlgemuth, S.E. Wollert, T. Wolvetang, E.J. Wong, E. Wong, G.W. Wong, R.W. Wong, V.K.W. Woodcock, E.A. Wright, K.L. Wu, C. Wu, D. Wu, G.S. Wu, J. Wu, J. Wu, M. Wu, M. Wu, S. Wu, W.K.K. Wu, Y. Wu, Z. Xavier, C.P.R. Xavier, R.J. Xia, G.-X. Xia, T. Xia, W. Xia, Y. Xiao, H. Xiao, J. Xiao, S. Xiao, W. Xie, C.-M. Xie, Z. Xie, Z. Xilouri, M. Xiong, Y. Xu, C. Xu, C. Xu, F. Xu, H. Xu, H. Xu, J. Xu, J. Xu, J. Xu, L. Xu, X. Xu, Y. Xu, Y. Xu, Z.-X. Xu, Z. Xue, Y. Yamada, T. Yamamoto, A. Yamanaka, K. Yamashina, S. Yamashiro, S. Yan, B. Yan, B. Yan, X. Yan, Z. Yanagi, Y. Yang, D.-S. Yang, J.-M. Yang, L. Yang, M. Yang, P.-M. Yang, P. Yang, Q. Yang, W. Yang, W.Y. Yang, X. Yang, Y. Yang, Y. Yang, Z. Yang, Z. Yao, M.-C. Yao, P.J. Yao, X. Yao, Z. Yao, Z. Yasui, L.S. Ye, M. Yedvobnick, B. Yeganeh, B. Yeh, E.S. Yeyati, P.L. Yi, F. Yi, L. Yin, X.-M. Yip, C.K. Yoo, Y.-M. Yoo, Y.H. Yoon, S.-Y. Yoshida, K.-I. Yoshimori, T. Young, K.H. Yu, H. Yu, J.J. Yu, J.-T. Yu, J. Yu, L. Yu, W.H. Yu, X.-F. Yu, Z. Yuan, J. Yuan, Z.-M. Yue, B.Y.J.T. Yue, J. Yue, Z. Zacks, D.N. Zacksenhaus, E. Zaffaroni, N. Zaglia, T. Zakeri, Z. Zecchini, V. Zeng, J. Zeng, M. Zeng, Q. Zervos, A.S. Zhang, D.D. Zhang, F. Zhang, G. Zhang, G.-C. Zhang, H. Zhang, H. Zhang, H. Zhang, J. Zhang, J. Zhang, J. Zhang, J.-P. Zhang, L. Zhang, L. Zhang, L. Zhang, M.-Y. Zhang, X. Zhang, X.D. Zhang, Y. Zhang, Y. Zhang, Y. Zhang, Y. Zhang, Y. Zhao, M. Zhao, W.-L. Zhao, X. Zhao, Y.G. Zhao, Y. Zhao, Y. Zhao, Y.-X. Zhao, Z. Zhao, Z.J. Zheng, D. Zheng, X.-L. Zheng, X. Zhivotovsky, B. Zhong, Q. Zhou, G.-Z. Zhou, G. Zhou, H. Zhou, S.-F. Zhou, X.-J. Zhu, H. Zhu, H. Zhu, W.-G. Zhu, W. Zhu, X.-F. Zhu, Y. Zhuang, S.-M. Zhuang, X. Ziparo, E. Zois, C.E. Zoladek, T. Zong, W.-X. Zorzano, A. Zughaier, S.M.

Published
2016

12. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Author

Snijders Blok, C., Madsen, E., Juusola, J., Gilissen, C.F., Baralle, D., Reijnders, M.R.F., Venselaar, H., Helsmoortel, C., Cho, M.T., Hoischen, A., Vissers, L.E., Koemans, T.S., Wissink, W.M., Eichler, E.E., Romano, C, Esch, H. Van, Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K., Bon, B.W. van, Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B.L., Dijck, A. Van, Innes, A.M., Racher, H., Vermeer, S., Donato, N. Di, Rump, A., Tatton-Brown, K., Parker, M.J., Henderson, A., Lynch, S.A., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Dijkstra, S, Schieving, J., Giltay, J., Gassen, K.L. van, Schuurs-Hoeijmakers, J., Tan, P.L., Pediaditakis, I., Haas, S.A., Retterer, K., Reed, P., Monaghan, K.G., Haverfield, E., Natowicz, M., Myers, A., Kruer, M.C., Stein, Q., Strauss, K.A., Brigatti, K.W., Keating, K., Burton, B.K., Kim, K.H., Charrow, J., Norman, J., Foster-Barber, A., Kline, A.D., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K.M., Roozendaal, K. van, Brunner, H.G., Chung, W.K., Kooy, R.F., Pfundt, R., Kalscheuer, V., Mehta, S.G., Katsanis, N., Kleefstra, T., Snijders Blok, C., Madsen, E., Juusola, J., Gilissen, C.F., Baralle, D., Reijnders, M.R.F., Venselaar, H., Helsmoortel, C., Cho, M.T., Hoischen, A., Vissers, L.E., Koemans, T.S., Wissink, W.M., Eichler, E.E., Romano, C, Esch, H. Van, Stumpel, C., Vreeburg, M., Smeets, E., Oberndorff, K., Bon, B.W. van, Shaw, M., Gecz, J., Haan, E., Bienek, M., Jensen, C., Loeys, B.L., Dijck, A. Van, Innes, A.M., Racher, H., Vermeer, S., Donato, N. Di, Rump, A., Tatton-Brown, K., Parker, M.J., Henderson, A., Lynch, S.A., Fryer, A., Ross, A., Vasudevan, P., Kini, U., Newbury-Ecob, R., Chandler, K., Male, A., Dijkstra, S, Schieving, J., Giltay, J., Gassen, K.L. van, Schuurs-Hoeijmakers, J., Tan, P.L., Pediaditakis, I., Haas, S.A., Retterer, K., Reed, P., Monaghan, K.G., Haverfield, E., Natowicz, M., Myers, A., Kruer, M.C., Stein, Q., Strauss, K.A., Brigatti, K.W., Keating, K., Burton, B.K., Kim, K.H., Charrow, J., Norman, J., Foster-Barber, A., Kline, A.D., Kimball, A., Zackai, E., Harr, M., Fox, J., McLaughlin, J., Lindstrom, K., Haude, K.M., Roozendaal, K. van, Brunner, H.G., Chung, W.K., Kooy, R.F., Pfundt, R., Kalscheuer, V., Mehta, S.G., Katsanis, N., and Kleefstra, T.

Abstract

Contains fulltext : 153453.pdf (publisher's version ) (Closed access), Intellectual disability (ID) affects approximately 1%-3% of humans with a gender bias toward males. Previous studies have identified mutations in more than 100 genes on the X chromosome in males with ID, but there is less evidence for de novo mutations on the X chromosome causing ID in females. In this study we present 35 unique deleterious de novo mutations in DDX3X identified by whole exome sequencing in 38 females with ID and various other features including hypotonia, movement disorders, behavior problems, corpus callosum hypoplasia, and epilepsy. Based on our findings, mutations in DDX3X are one of the more common causes of ID, accounting for 1%-3% of unexplained ID in females. Although no de novo DDX3X mutations were identified in males, we present three families with segregating missense mutations in DDX3X, suggestive of an X-linked recessive inheritance pattern. In these families, all males with the DDX3X variant had ID, whereas carrier females were unaffected. To explore the pathogenic mechanisms accounting for the differences in disease transmission and phenotype between affected females and affected males with DDX3X missense variants, we used canonical Wnt defects in zebrafish as a surrogate measure of DDX3X function in vivo. We demonstrate a consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway, and we further show a differential effect by gender. The differential activity possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDX3X mutations.

Published
2015

13. Encephalitis with refractory seizures, status epilepticus, and antibodies to the GABAA receptor: A case series, characterisation of the antigen, and analysis of the effects of antibodies

Author

Petit-Pedrol, M. (Mar), Armangue, T. (Thaís), Peng, X. (Xiaoyu), Bataller, L. (Luis), Cellucci, T. (Tania), Davis, R. (Rebecca), McCracken, L. (Lindsey), Martinez-Hernandez, E. (Eugenia), Mason, W.P. (Warren), Kruer, M.C. (Michael), Ritacco, D.G. (David), Grisold, W. (Wolfgang), Meaney, M.J., Alcalá, C. (Carmen), Sillevis Smitt, P.A.E. (Peter), Titulaer, M.J. (Maarten), Balice-Gordon, R. (Rita), Graus, F. (Francesc), Dalmau, J. (Josep), Petit-Pedrol, M. (Mar), Armangue, T. (Thaís), Peng, X. (Xiaoyu), Bataller, L. (Luis), Cellucci, T. (Tania), Davis, R. (Rebecca), McCracken, L. (Lindsey), Martinez-Hernandez, E. (Eugenia), Mason, W.P. (Warren), Kruer, M.C. (Michael), Ritacco, D.G. (David), Grisold, W. (Wolfgang), Meaney, M.J., Alcalá, C. (Carmen), Sillevis Smitt, P.A.E. (Peter), Titulaer, M.J. (Maarten), Balice-Gordon, R. (Rita), Graus, F. (Francesc), and Dalmau, J. (Josep)

Abstract

Background: Increasing evidence suggests that seizures and status epilepticus can be immune-mediated. We aimed to describe the clinical features of a new epileptic disorder, and to establish the target antigen and the effects of patients' antibodies on neuronal cultures. Methods: In this observational study

Published
2014
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