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7. Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies

Author

Gonzàlez-Duarte, Roser, de Castro-Miró, Marta, Tuson, Miquel, Ramírez-Castañeda, Valeria, Gils, Rebeca Valero, Marfany, Gemma, Crusio, Wim E., Series Editor, Lambris, John D., Series Editor, Radeke, Heinfried H., Series Editor, Rezaei, Nima, Series Editor, Bowes Rickman, Catherine, editor, Grimm, Christian, editor, Anderson, Robert E., editor, Ash, John D., editor, LaVail, Matthew M., editor, and Hollyfield, Joe G., editor

Published
2019
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11. Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene

Author

Baz-Redón, Noelia, primary, Sánchez-Bellver, Laura, additional, Fernández-Cancio, Mónica, additional, Rovira-Amigo, Sandra, additional, Burgoyne, Thomas, additional, Ranjit, Rai, additional, Aquino, Virginia, additional, Toro-Barrios, Noemí, additional, Carmona, Rosario, additional, Polverino, Eva, additional, Cols, Maria, additional, Moreno-Galdó, Antonio, additional, Camats-Tarruella, Núria, additional, and Marfany, Gemma, additional

Published
2024
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12. A mammalian-specific Alex3/Gα q protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival

Author

Izquierdo-Villalba, Ismael, primary, Mirra, Serena, additional, Manso, Yasmina, additional, Parcerisas, Antoni, additional, Rubio, Javier, additional, Del Valle, Jaume, additional, Gil-Bea, Francisco J., additional, Ulloa, Fausto, additional, Herrero-Lorenzo, Marina, additional, Verdaguer, Ester, additional, Benincá, Cristiane, additional, Castro-Torres, Rubén D., additional, Rebollo, Elena, additional, Marfany, Gemma, additional, Auladell, Carme, additional, Navarro, Xavier, additional, Enríquez, José A., additional, López de Munain, Adolfo, additional, Soriano, Eduardo, additional, and Aragay, Anna M., additional

Published
2024
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15. EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

Author

Barbeito, Pablo, primary, Martin-Morales, Raquel, additional, Palencia-Campos, Adrian, additional, Cerrolaza, Juan, additional, Rivas-Santos, Celia, additional, Gallego-Colastra, Leticia, additional, Caparros-Martin, Jose Antonio, additional, Martin-Bravo, Carolina, additional, Martin-Hurtado, Ana, additional, Sánchez-Bellver, Laura, additional, Marfany, Gemma, additional, Ruiz-Perez, Victor L., additional, and Garcia-Gonzalo, Francesc R., additional

Published
2023
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16. Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions

Author

Navas-Pérez, Enrique, Vicente-García, Cristina, Mirra, Serena, Burguera, Demian, Fernàndez-Castillo, Noèlia, Ferrán, José Luis, López-Mayorga, Macarena, Alaiz-Noya, Marta, Suárez-Pereira, Irene, Antón-Galindo, Ester, Ulloa, Fausto, Herrera-Úbeda, Carlos, Cuscó, Pol, Falcón-Moya, Rafael, Rodríguez-Moreno, Antonio, D’Aniello, Salvatore, Cormand, Bru, Marfany, Gemma, Soriano, Eduardo, Carrión, Ángel M., Carvajal, Jaime J., and Garcia-Fernàndez, Jordi

Published
2020
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17. A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival.

Author

Izquierdo-Villalba, Ismael, Mirra, Serena, Manso, Yasmina, Parcerisas, Antoni, Rubio, Javier, Del Valle, Jaume, Gil-Bea, Francisco J., Ulloa, Fausto, Herrero-Lorenzo, Marina, Verdaguer, Ester, Benincá, Cristiane, Castro-Torres, Rubén D., Rebollo, Elena, Marfany, Gemma, Auladell, Carme, Navarro, Xavier, Enríquez, José A., López de Munain, Adolfo, Soriano, Eduardo, and Aragay, Anna M.

Subjects
AMPA receptors, MOLECULAR motor proteins, MITOCHONDRIAL proteins, G protein coupled receptors, MITOCHONDRIA, HEAT shock proteins, MOTOR neurons, WNT signal transduction
Abstract

Mitochondrial dynamics and trafficking are essential to provide the energy required for neurotransmission and neural activity. We investigated how G protein–coupled receptors (GPCRs) and G proteins control mitochondrial dynamics and trafficking. The activation of Gαq inhibited mitochondrial trafficking in neurons through a mechanism that was independent of the canonical downstream PLCβ pathway. Mitoproteome analysis revealed that Gαq interacted with the Eutherian-specific mitochondrial protein armadillo repeat–containing X-linked protein 3 (Alex3) and the Miro1/Trak2 complex, which acts as an adaptor for motor proteins involved in mitochondrial trafficking along dendrites and axons. By generating a CNS-specific Alex3 knockout mouse line, we demonstrated that Alex3 was required for the effects of Gαq on mitochondrial trafficking and dendritic growth in neurons. Alex3-deficient mice had altered amounts of ER stress response proteins, increased neuronal death, motor neuron loss, and severe motor deficits. These data revealed a mammalian-specific Alex3/Gαq mitochondrial complex, which enables control of mitochondrial trafficking and neuronal death by GPCRs. Editor's summary: The elongated morphology of neurons means that mitochondria must be trafficked over long distances to support energy-intensive processes in multiple subcellular compartments. Izquierdo-Villalba et al. found that mitochondrial trafficking in neurons required the interaction of the G protein Gαq with the mitochondrial protein Alex3. Gαq enhanced the binding of Alex3 to mitochondrial trafficking proteins that mediate anterograde traffic. Expression of a constitutively active form of Gαq in neurons from mice with a CNS-specific deficiency in Alex3 revealed that Gαq was necessary for the role of Alex3 in mitochondrial trafficking and distribution and dendritic arborization. These results raise the intriguing possibility that the activity of Gαq-coupled receptors can affect mitochondrial trafficking in neurons through the Gαq/Alex3 complex. —Wei Wong [ABSTRACT FROM AUTHOR]

Published
2024
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20. Image8_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF [Dataset]

Author

Barbeito, Pablo, Martin-Morales, Raquel, Palencia-Campos, Adrián, Cerrolaza, Juan, Rivas-Santos, Celia, Gallego-Colastra, Leticia, Caparrós-Martín, José A., Martín Bravo, Carolina, Martín-Hurtado, Ana, Sánchez-Bellver, Laura, Marfany, Gemma, Ruiz-Pérez, Victor L., Garcia-Gonzalo, Francesc R., Barbeito, Pablo, Martin-Morales, Raquel, Palencia-Campos, Adrián, Cerrolaza, Juan, Rivas-Santos, Celia, Gallego-Colastra, Leticia, Caparrós-Martín, José A., Martín Bravo, Carolina, Martín-Hurtado, Ana, Sánchez-Bellver, Laura, Marfany, Gemma, Ruiz-Pérez, Victor L., and Garcia-Gonzalo, Francesc R.

Abstract

Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis. These ciliopathies are caused by mutations affecting the EVC-EVC2 complex, a transmembrane protein heterodimer that regulates Hedgehog signaling from inside primary cilia. Despite the importance of this complex, the mechanisms underlying its stability, targeting and function are poorly understood. To address this, we characterized the endogenous EVC protein interactome in control and Evc-null cells. This proteomic screen confirmed EVC’s main known interactors (EVC2, IQCE, EFCAB7), while revealing new ones, including USP7, a deubiquitinating enzyme involved in Hedgehog signaling. We therefore looked at EVC-EVC2 complex ubiquitination. Such ubiquitination exists but is independent of USP7 (and of USP48, also involved in Hh signaling). We did find, however, that monoubiquitination of EVC-EVC2 cytosolic tails greatly reduces their protein levels. On the other hand, modification of EVC-EVC2 cytosolic tails with the small ubiquitin-related modifier SUMO3 has a different effect, enhancing complex accumulation at the EvC zone, immediately distal to the ciliary transition zone, possibly via increased binding to the EFCAB7-IQCE complex. Lastly, we find that EvC zone targeting of EVC-EVC2 depends on two separate EFCAB7-binding motifs within EVC2’s Weyers-deleted peptide. Only one of these motifs had been characterized previously, so we have mapped the second herein. Altogether, our data shed light on EVC-EVC2 complex regulatory mechanisms, with implications for ciliopathies.

Published
2023

21. Table1_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.XLSX [Dataset]

Author

Barbeito, Pablo, Martin-Morales, Raquel, Palencia-Campos, Adrián, Cerrolaza, Juan, Rivas-Santos, Celia, Gallego-Colastra, Leticia, Caparrós-Martín, José A., Martín Bravo, Carolina, Martín-Hurtado, Ana, Sánchez-Bellver, Laura, Marfany, Gemma, Ruiz-Pérez, Victor L., Garcia-Gonzalo, Francesc R., Barbeito, Pablo, Martin-Morales, Raquel, Palencia-Campos, Adrián, Cerrolaza, Juan, Rivas-Santos, Celia, Gallego-Colastra, Leticia, Caparrós-Martín, José A., Martín Bravo, Carolina, Martín-Hurtado, Ana, Sánchez-Bellver, Laura, Marfany, Gemma, Ruiz-Pérez, Victor L., and Garcia-Gonzalo, Francesc R.

Abstract

Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis. These ciliopathies are caused by mutations affecting the EVC-EVC2 complex, a transmembrane protein heterodimer that regulates Hedgehog signaling from inside primary cilia. Despite the importance of this complex, the mechanisms underlying its stability, targeting and function are poorly understood. To address this, we characterized the endogenous EVC protein interactome in control and Evc-null cells. This proteomic screen confirmed EVC’s main known interactors (EVC2, IQCE, EFCAB7), while revealing new ones, including USP7, a deubiquitinating enzyme involved in Hedgehog signaling. We therefore looked at EVC-EVC2 complex ubiquitination. Such ubiquitination exists but is independent of USP7 (and of USP48, also involved in Hh signaling). We did find, however, that monoubiquitination of EVC-EVC2 cytosolic tails greatly reduces their protein levels. On the other hand, modification of EVC-EVC2 cytosolic tails with the small ubiquitin-related modifier SUMO3 has a different effect, enhancing complex accumulation at the EvC zone, immediately distal to the ciliary transition zone, possibly via increased binding to the EFCAB7-IQCE complex. Lastly, we find that EvC zone targeting of EVC-EVC2 depends on two separate EFCAB7-binding motifs within EVC2’s Weyers-deleted peptide. Only one of these motifs had been characterized previously, so we have mapped the second herein. Altogether, our data shed light on EVC-EVC2 complex regulatory mechanisms, with implications for ciliopathies.

Published
2023

22. Image4_EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.TIF

Author

Barbeito, Pablo, Martin-Morales, Raquel, Palencia-Campos, Adrián, Cerrolaza, Juan, Rivas-Santos, Celia, Gallego-Colastra, Leticia, Caparrós-Martín, José A., Martín Bravo, Carolina, Martín-Hurtado, Ana, Sánchez-Bellver, Laura, Marfany, Gemma, Ruiz-Pérez, Victor L., Garcia-Gonzalo, Francesc R., Barbeito, Pablo, Martin-Morales, Raquel, Palencia-Campos, Adrián, Cerrolaza, Juan, Rivas-Santos, Celia, Gallego-Colastra, Leticia, Caparrós-Martín, José A., Martín Bravo, Carolina, Martín-Hurtado, Ana, Sánchez-Bellver, Laura, Marfany, Gemma, Ruiz-Pérez, Victor L., and Garcia-Gonzalo, Francesc R.

Abstract

Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis. These ciliopathies are caused by mutations affecting the EVC-EVC2 complex, a transmembrane protein heterodimer that regulates Hedgehog signaling from inside primary cilia. Despite the importance of this complex, the mechanisms underlying its stability, targeting and function are poorly understood. To address this, we characterized the endogenous EVC protein interactome in control and Evc-null cells. This proteomic screen confirmed EVC’s main known interactors (EVC2, IQCE, EFCAB7), while revealing new ones, including USP7, a deubiquitinating enzyme involved in Hedgehog signaling. We therefore looked at EVC-EVC2 complex ubiquitination. Such ubiquitination exists but is independent of USP7 (and of USP48, also involved in Hh signaling). We did find, however, that monoubiquitination of EVC-EVC2 cytosolic tails greatly reduces their protein levels. On the other hand, modification of EVC-EVC2 cytosolic tails with the small ubiquitin-related modifier SUMO3 has a different effect, enhancing complex accumulation at the EvC zone, immediately distal to the ciliary transition zone, possibly via increased binding to the EFCAB7-IQCE complex. Lastly, we find that EvC zone targeting of EVC-EVC2 depends on two separate EFCAB7-binding motifs within EVC2’s Weyers-deleted peptide. Only one of these motifs had been characterized previously, so we have mapped the second herein. Altogether, our data shed light on EVC-EVC2 complex regulatory mechanisms, with implications for ciliopathies.

Published
2023

23. EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

Author

Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Barbeito, Pablo, Martin-Morales, Raquel, Palencia-Campos, Adrián, Cerrolaza, Juan, Rivas-Santos, Celia, Gallego-Colastra, Leticia, Caparrós-Martín, José A., Martín Bravo, Carolina, Martín-Hurtado, Ana, Sánchez-Bellver, Laura, Marfany, Gemma, Ruiz-Pérez, Victor L., Garcia-Gonzalo, Francesc R., Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Barbeito, Pablo, Martin-Morales, Raquel, Palencia-Campos, Adrián, Cerrolaza, Juan, Rivas-Santos, Celia, Gallego-Colastra, Leticia, Caparrós-Martín, José A., Martín Bravo, Carolina, Martín-Hurtado, Ana, Sánchez-Bellver, Laura, Marfany, Gemma, Ruiz-Pérez, Victor L., and Garcia-Gonzalo, Francesc R.

Abstract

Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis. These ciliopathies are caused by mutations affecting the EVC-EVC2 complex, a transmembrane protein heterodimer that regulates Hedgehog signaling from inside primary cilia. Despite the importance of this complex, the mechanisms underlying its stability, targeting and function are poorly understood. To address this, we characterized the endogenous EVC protein interactome in control and Evc-null cells. This proteomic screen confirmed EVC’s main known interactors (EVC2, IQCE, EFCAB7), while revealing new ones, including USP7, a deubiquitinating enzyme involved in Hedgehog signaling. We therefore looked at EVC-EVC2 complex ubiquitination. Such ubiquitination exists but is independent of USP7 (and of USP48, also involved in Hh signaling). We did find, however, that monoubiquitination of EVC-EVC2 cytosolic tails greatly reduces their protein levels. On the other hand, modification of EVC-EVC2 cytosolic tails with the small ubiquitin-related modifier SUMO3 has a different effect, enhancing complex accumulation at the EvC zone, immediately distal to the ciliary transition zone, possibly via increased binding to the EFCAB7-IQCE complex. Lastly, we find that EvC zone targeting of EVC-EVC2 depends on two separate EFCAB7-binding motifs within EVC2’s Weyers-deleted peptide. Only one of these motifs had been characterized previously, so we have mapped the second herein. Altogether, our data shed light on EVC-EVC2 complex regulatory mechanisms, with implications for ciliopathies

Published
2023

24. Exacerbated response to oxidative stress in the Retinitis Pigmentosa CerklKD/KO mouse model triggers retinal degeneration pathways upon acute light stress

Author

Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Generalitat de Catalunya, Ministerio de Ciencia e Innovación (España), European Commission, García-Arroyo, Rocío, Domènech, Elena B, Herrera-Úbeda, Carlos, Asensi, Miguel A, Núñez de Arenas, Cristina, Cuezva, José M., Garcia-Fernàndez, Jordi, Pallardó, Federico V, Mirra, Serena, Marfany, Gemma, Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Generalitat de Catalunya, Ministerio de Ciencia e Innovación (España), European Commission, García-Arroyo, Rocío, Domènech, Elena B, Herrera-Úbeda, Carlos, Asensi, Miguel A, Núñez de Arenas, Cristina, Cuezva, José M., Garcia-Fernàndez, Jordi, Pallardó, Federico V, Mirra, Serena, and Marfany, Gemma

Abstract

The retina is particularly vulnerable to genetic and environmental alterations that generate oxidative stress and cause cellular damage in photoreceptors and other retinal neurons, eventually leading to cell death. CERKL (CERamide Kinase-Like) mutations cause Retinitis Pigmentosa and Cone-Rod Dystrophy in humans, two disorders characterized by photoreceptor degeneration and progressive vision loss. CERKL is a resilience gene against oxidative stress, and its overexpression protects cells from oxidative stress-induced apoptosis. Besides, CERKL contributes to stress granule-formation and regulates mitochondrial dynamics in the retina. Using the Cerkl albino mouse model, which recapitulates the human disease, we aimed to study the impact of Cerkl knockdown on stress response and activation of photoreceptor death mechanisms upon light/oxidative stress. After acute light injury, we assessed immediate or late retinal stress response, by combining both omic and non-omic approaches. Our results show that Cerkl knockdown increases ROS levels and causes a basal exacerbated stress state in the retina, through alterations in glutathione metabolism and stress granule production, overall compromising an adequate response to additional oxidative damage. As a consequence, several cell death mechanisms are triggered in Cerkl retinas after acute light stress. Our studies indicate that Cerkl gene is a pivotal player in regulating light-challenged retinal homeostasis and shed light on how mutations in CERKL lead to blindness by dysregulation of the basal oxidative stress response in the retina.

Published
2023

30. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Author

Castilla-Vallmanya, Laura, primary, Centeno-Pla, Mónica, additional, Serrano, Mercedes, additional, Franco-Valls, Héctor, additional, Martínez-Cabrera, Raúl, additional, Prat-Planas, Aina, additional, Rojano, Elena, additional, Ranea, Juan A G, additional, Seoane, Pedro, additional, Oliva, Clara, additional, Paredes-Fuentes, Abraham J, additional, Marfany, Gemma, additional, Artuch, Rafael, additional, Grinberg, Daniel, additional, Rabionet, Raquel, additional, Balcells, Susanna, additional, and Urreizti, Roser, additional

Published
2022
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34. The deubiquitinating enzyme USP48 interacts with the retinal degeneration-associated proteins UNC119a and ARL3

Author

Generalitat de Catalunya, Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ministerio de Ciencia e Innovación (España), European Commission, Sánchez-Bellver, Laura, Férriz-Gordillo, Andrea, Carrillo-Pz, Marc, Rabanal, Laura, Garcia-Gonzalo, Francesc R., Marfany, Gemma, Generalitat de Catalunya, Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ministerio de Ciencia e Innovación (España), European Commission, Sánchez-Bellver, Laura, Férriz-Gordillo, Andrea, Carrillo-Pz, Marc, Rabanal, Laura, Garcia-Gonzalo, Francesc R., and Marfany, Gemma

Abstract

Proteins related to the ubiquitin-proteasome system play an important role during the differentiation and ciliogenesis of photoreceptor cells. Mutations in several genes involved in ubiquitination and proteostasis have been identified as causative of inherited retinal dystrophies (IRDs) and ciliopathies. USP48 is a deubiquitinating enzyme whose role in the retina is still unexplored although previous studies indicate its relevance for neurosensory organs. In this work, we describe that a pool of endogenous USP48 localises to the basal body in retinal cells and provide data that supports the function of USP48 in the photoreceptor cilium. We also demonstrate that USP48 interacts with the IRD-associated proteins ARL3 and UNC119a, and stabilise their protein levels using different mechanisms. Our results suggest that USP48 may act in the regulation/stabilisation of key ciliary proteins for photoreceptor function, in the modulation of intracellular protein transport, and in ciliary trafficking to the photoreceptor outer segment.

Published
2022

35. Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.

Author

Castilla-Vallmanya, Laura, Centeno-Pla, Mónica, Serrano, Mercedes, Franco-Valls, Héctor, Martínez-Cabrera, Raúl, Prat-Planas, Aina, Rojano, Elena, Ranea, Juan A. G., Seoane, Pedro, Oliva, Clara, Paredes-Fuentes, Abraham J., Marfany, Gemma, Artuch, Rafael, Grinberg, Daniel, Rabionet, Raquel, Balcells, Susanna, and Urreizti, Roser

Abstract

Background Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi syndrome. MAGEL2 plays a role in retrograde transport and protein recycling regulation. Our aim is to contribute to the characterisation of SYS pathophysiology at clinical, genetic and molecular levels. Methods We performed an extensive phenotypic and mutational revision of previously reported patients with SYS. We analysed the secretion levels of amyloid-ß 1-40 peptide (Aß1-40) and performed targeted metabolomic and transcriptomic profiles in fibroblasts of patients with SYS (n=7) compared with controls (n=11). We also transfected cell lines with vectors encoding wild-type (WT) or mutated MAGEL2 to assess stability and subcellular localisation of the truncated protein. Results Functional studies show significantly decreased levels of secreted Aß1-40 and intracellular glutamine in SYS fibroblasts compared with WT. We also identified 132 differentially expressed genes, including non-coding RNAs (ncRNAs) such as HOTAIR, and many of them related to developmental processes and mitotic mechanisms. The truncated form of MAGEL2 displayed a stability similar to the WT but it was significantly switched to the nucleus, compared with a mainly cytoplasmic distribution of the WT MAGEL2. Based on the updated knowledge, we offer guidelines for the clinical management of patients with SYS. Conclusion A truncated MAGEL2 protein is stable and localises mainly in the nucleus, where it might exert a pathogenic neomorphic effect. Aß1-40 secretion levels and HOTAIR mRNA levels might be promising biomarkers for SYS. Our findings may improve SYS understanding and clinical management. [ABSTRACT FROM AUTHOR]

Published
2023
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39. Altered retinal structure and function in Spinocerebellar ataxia type 3

Author

Toulis, Vasileios, primary, Casaroli-Marano, Ricardo, additional, Camós-Carreras, Anna, additional, Figueras-Roca, Marc, additional, Sánchez-Dalmau, Bernardo, additional, Muñoz, Esteban, additional, Ashraf, Naila S., additional, Ferreira, Ana F., additional, Khan, Naheed, additional, Marfany, Gemma, additional, and do Carmo Costa, Maria, additional

Published
2022
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41. A novel Alex3/Gαq protein complex regulating mitochondrial dynamics, dendritic complexity, and neuronal survival

Author

Izquierdo-Villalba, Ismael, primary, Mirra, Serena, additional, Manso, Yasmina, additional, Parcerisas, Antoni, additional, Rubio, Javier, additional, Del Valle, Jaume, additional, Gil-Bea, Francisco J., additional, Ulloa, Fausto, additional, Herrero-Lorenzo, Marina, additional, Verdaguer, Ester, additional, Benincá, Cristiane, additional, Castro-Torres, Rubén D., additional, Rebollo, Elena, additional, Marfany, Gemma, additional, Auladell, Carme, additional, Navarro, Xavier, additional, Enríquez, José A., additional, de Munain, Adolfo López, additional, Aragay, Anna M., additional, and Soriano, Eduardo, additional

Published
2021
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43. Additional file 1 of Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions

Author

Navas-Pérez, Enrique, Vicente-García, Cristina, Mirra, Serena, Demian Burguera, Noèlia Fernàndez-Castillo, Ferrán, José Luis, López-Mayorga, Macarena, Alaiz-Noya, Marta, Suárez-Pereira, Irene, Antón-Galindo, Ester, Ulloa, Fausto, Herrera-Úbeda, Carlos, Cuscó, Pol, Falcón-Moya, Rafael, Rodríguez-Moreno, Antonio, D’Aniello, Salvatore, Bru Cormand, Marfany, Gemma, Soriano, Eduardo, Carrión, Ángel M., Carvajal, Jaime J., and Garcia-Fernàndez, Jordi

Abstract

Additional file 1: Fig. S1 The Tceal7 gene is derived from the domestication of L1 retrotransposon fragments. Fig. S2 The Bex/Tceal gene cluster was established before the diversification of extant eutherians. Fig. S3 Highly diverged BEX/TCEAL proteins share a coiled coil domain. Fig. S4 BEX/TCEAL proteins might have inherited some of their structural properties from the ancestral transposon. Fig. S5 Selection pressure analyses reveal signatures of positive selection in the Bex/Tceal genes. Fig. S6 A BGW-like sequence was already present in the GLA promoter of the last therian common ancestor. Fig. S7 Bex/Tceal genes show tissue-enriched expression patterns during development. Fig. S8 Bex3 and Tceal7 genes, but not the ancestral HALEX element, induce cell proliferation in chicken neural tube. Fig. S9 The deletions introduced using CRISPR-Cas9 technology can be observed in the mRNA expressed from the Bex3 mutant alleles. Fig. S10 CRISPR-Cas9-generated Bex3 mutant alleles show subtle skull abnormalities. Fig. S11 Bex3 mutant mice show normal acoustic startle reflex. Fig. S12 Bex3 deficiency leads to aberrant mTOR signaling in the brain. Table S1 Coding genes putatively derived from transposable elements in the human and mouse genomes. Table S2 Altered expression of BEX and TCEAL genes in subjects with autism spectrum disorder or schizophrenia. Table S3 Enrichment of differential gene expression in BEX and TCEAL gene families in subjects with autism spectrum disorder or schizophrenia. Table S4 Primers and reconstructed gene sequences used in this work. Supplementary references.

Published
2020
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44. Additional file 2 of Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions

Author

Navas-Pérez, Enrique, Vicente-García, Cristina, Mirra, Serena, Demian Burguera, Noèlia Fernàndez-Castillo, Ferrán, José Luis, López-Mayorga, Macarena, Alaiz-Noya, Marta, Suárez-Pereira, Irene, Antón-Galindo, Ester, Ulloa, Fausto, Herrera-Úbeda, Carlos, Cuscó, Pol, Falcón-Moya, Rafael, Rodríguez-Moreno, Antonio, D’Aniello, Salvatore, Bru Cormand, Marfany, Gemma, Soriano, Eduardo, Carrión, Ángel M., Carvajal, Jaime J., and Garcia-Fernàndez, Jordi

Abstract

Additional file 2. Review history.

Published
2020
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45. Pautes per avaluar projectes de recerca i innovació en salut que utilitzin tecnologies emergents i dades personals

Author

de Lecuona, Itziar, Bertrán, María Jesús, Bórquez, Blanca, Cabré, Lluís, Casado, María, Corcoy, Mirentxu, Dobernig, Mariana, Estévez, Fernando, García López, Fernando, Gómez, Begoña, Humet, Carlos, Jaume-Palasí, Lorena, Lamm, Eleonora, Leyton, Fabiola, Jesús López Baroni, Manuel, López de Mántaras, Ramón, Luna, Florencia, Marfany, Gemma, Martínez-Montauti, Joaquim, Mautone, Mariela, Melamed, Irene, Méndez, Míriam, Navarro-Michel, Mónica, Plana, Maria José, Riba, Neus, Rodríguez, Germán, Rubió, Robert, Santaló, Josepó, and Subías, Paula

Subjects
Recht, Life Science, Law Group
Abstract

Los intereses de la ciencia, la tecnología y la sociedad no deben prevalecer sobre los del individuo. Asegurar este principio es una de las tareas de los comités de ética de la investigación (CEI), unos órganos colegiados interdisciplinarios establecidos por la ley que analizan la validez científica de las investigaciones y su valor social, y que ponderan los derechos e intereses en juego. En los últimos años se ha visto como la labor de los CEI se ampliaba: ya no solo evalúan ensayos clínicos con medicamentos y productos sanitarios, sino que también analizan proyectos en los que se aplican tecnologías emergentes como la inteligencia artificial, los datos masivos, la biometría o la realidad virtual, entre otras. En este contexto, el Grupo de Opinión del Observatorio de Bioética y Derecho - Cátedra UNESCO de Bioética de la Universidad de Barcelona (OBD) ha publicado el documento Pautas para evaluar proyectos de investigación e innovación en salud que utilicen tecnologías emergentes y datos personales, donde se tratan los retos, las cuestiones no resueltas y los problemas que suscitan los proyectos de investigación e innovación en salud.

Published
2020

46. Characterization of an eutherian gene cluster generated after transposon domestication identifies Bex3 as relevant for advanced neurological functions

Author

Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), European Commission, Junta de Andalucía, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Navas, Enrique, Vicente-García, Cristina, Mirra, Serena, Burguera, Demian, Fernández-Castillo, Noèlia, Ferrán, José Luis, López-Mayorga, Macarena, Alaiz-Noya, Marta, Suárez-Pereira, Irene, Antón-Galindo, Ester, Ulloa, Fausto, Herrera-Úbeda, Carlos, Cuscó, Pol, Falcón-Moya, Rafael, Rodríguez-Moreno, Antonio, D’Aniello, Salvatore, Cormand, Bru, Marfany, Gemma, Soriano, Eduardo, Carrión Rodríguez, Ángel Manuel, Carvajal, Jaime J., Garcia-Fernàndez, Jordi, Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), European Commission, Junta de Andalucía, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Navas, Enrique, Vicente-García, Cristina, Mirra, Serena, Burguera, Demian, Fernández-Castillo, Noèlia, Ferrán, José Luis, López-Mayorga, Macarena, Alaiz-Noya, Marta, Suárez-Pereira, Irene, Antón-Galindo, Ester, Ulloa, Fausto, Herrera-Úbeda, Carlos, Cuscó, Pol, Falcón-Moya, Rafael, Rodríguez-Moreno, Antonio, D’Aniello, Salvatore, Cormand, Bru, Marfany, Gemma, Soriano, Eduardo, Carrión Rodríguez, Ángel Manuel, Carvajal, Jaime J., and Garcia-Fernàndez, Jordi

Abstract

[Background]: One of the most unusual sources of phylogenetically restricted genes is the molecular domestication of transposable elements into a host genome as functional genes. Although these kinds of events are sometimes at the core of key macroevolutionary changes, their origin and organismal function are generally poorly understood., [Results]: Here, we identify several previously unreported transposable element domestication events in the human and mouse genomes. Among them, we find a remarkable molecular domestication that gave rise to a multigenic family in placental mammals, the Bex/Tceal gene cluster. These genes, which act as hub proteins within diverse signaling pathways, have been associated with neurological features of human patients carrying genomic microdeletions in chromosome X. The Bex/Tceal genes display neural-enriched patterns and are differentially expressed in human neurological disorders, such as autism and schizophrenia. Two different murine alleles of the cluster member Bex3 display morphological and physiopathological brain modifications, such as reduced interneuron number and hippocampal electrophysiological imbalance, alterations that translate into distinct behavioral phenotypes., [Conclusions]: We provide an in-depth understanding of the emergence of a gene cluster that originated by transposon domestication and gene duplication at the origin of placental mammals, an evolutionary process that transformed a non-functional transposon sequence into novel components of the eutherian genome. These genes were integrated into existing signaling pathways involved in the development, maintenance, and function of the CNS in eutherians. At least one of its members, Bex3, is relevant for higher brain functions in placental mammals and may be involved in human neurological disorders.

Published
2020

48. Contributors

Author

Abbott, Catherine Anne, primary, Abraham, Carmela R., additional, Adachi, Hideki, additional, Adachi, Osao, additional, Adam, Zach, additional, Adams, Michael W.W., additional, Adang, Michael J., additional, Adham, Ibrahim M., additional, Aducci, Patrizia, additional, Agard, David A., additional, Agranovsky, Alexey A., additional, Akamatsu, Tetsuya, additional, Akiyama, Yoshinori, additional, Albrechtsen, Reidar, additional, Alejo, Alí, additional, Amberg, Sean M., additional, Amerik, Alexander Y., additional, Amparyup, Piti, additional, Andrade, Felipe, additional, Andrés, Germán, additional, Andrews, Daniel M., additional, Andrews, Robert K., additional, Antalis, Toni M., additional, Anthony, Colin S., additional, Aoki, Naoya, additional, Apte, Suneel S., additional, Arima, Kazunari, additional, Arlaud, Gérard, additional, Arni, Raghuvir Krishnaswamy, additional, Arnoux, Pascal, additional, Aronson, Nathan N., additional, Arthur, Michel, additional, Asano, Yasuhisa, additional, Ascenzi, Paolo, additional, Assakura, Marina T., additional, Auld, David S., additional, Ávila, Veridiana de Melo Rodrigues, additional, Avilés, Francesc X., additional, Awad, William M., additional, Bachhawat, Anand K., additional, Bai, Shan, additional, Baird, Teaster T., additional, Bajaj, S. Paul, additional, Baker, Susan C., additional, Banbula, Agnieszka, additional, Barrett, Alan J., additional, Barrowman, Jemima, additional, Bartlett, John D., additional, Bartsch, Jörg W., additional, Baschuk, Nikola, additional, Baskova, Isolda P., additional, Batra, Jyotsna, additional, Bauer, Karl, additional, Baumann, Ulrich, additional, Baumeister, Wolfgang, additional, Bauvois, Cédric, additional, Bayés, Alex, additional, Beauvais, Anne, additional, Becker-Pauly, Christoph, additional, Begley, Tadhg P., additional, Békés, Miklós, additional, Belas, Robert, additional, Beleford, Daniah, additional, Beppu, Teruhiko, additional, Bergmann, Ernst M., additional, Bernard, Bruno A., additional, Bernard, Dominique, additional, Berndt, Michael C., additional, Berruti, Giovanna, additional, Berry, Colin, additional, Bertenshaw, Greg P., additional, Betzel, Christian, additional, Bhaskarla, Chetana, additional, Bhosale, Manoj, additional, Bierbaum, Gabriele, additional, Bjarnason Jón, B., additional, Blaber, Michael, additional, Blackman, Michael J., additional, Blinkovsky, Alexander, additional, Boeke, Jef D., additional, Bogyo, Matthew, additional, Bohn, Stefan, additional, Boileau, Guy, additional, Boland, Mike, additional, Bolken, Tové C., additional, Bond, Judith S., additional, Bondeson, Jan, additional, Bordallo, Javier, additional, Borelli, Claudia, additional, Botelho, Tiago O., additional, Bott, Richard R., additional, Bourne, David G., additional, Bovenschen, Niels, additional, Bradshaw, Ralph A., additional, Breddam, Klaus, additional, Brew, Keith, additional, Brindley, Paul J., additional, Brinkman, Diane L., additional, Britton, Collette, additional, Broadbent, Jeff R., additional, Broadhurst, Anne, additional, Brómme, Dieter, additional, Broom, Murray, additional, Brown, Jeremy S., additional, Brown, Mark A., additional, Bruchhaus, Iris, additional, Burleigh, Barbara A., additional, Burns, Kristin E., additional, Burrows, James F., additional, Butler, Michael J., additional, Buttle, David J., additional, Byrd, Chelsea M., additional, Byun, Tony, additional, Cadel, Sandrine, additional, Caffrey, Conor R., additional, Cal, Santiago, additional, Caldentey, Javier, additional, Candela, Thomas, additional, Capasso, Clemente, additional, Capriogilio, Daniel R., additional, Carginale, Vincenzo, additional, Carmona, Adriana Karaoglanovic, additional, Carruthers, Vern B., additional, Castellino, Francis J., additional, Catanese, Joseph J., additional, Caterson, Bruce, additional, Caughey, George H., additional, Cawley, Naimh X., additional, Cawston, Tim E., additional, Cazzulo, Juan José, additional, Chai, Jijie, additional, Chai, Karl X., additional, Chaim, Olga Meiri, additional, Chang, L.S., additional, Chao, Julie, additional, Chapot-Chartier, Marie-Pierre, additional, Charli, Jean-Louis, additional, Charlier, Paulette, additional, Chave, Karen J., additional, Chen, Jian-Min, additional, Chen, Jinq-May, additional, Chen, Li-Mei, additional, Chen, Ya-Wen, additional, Chen, Yu-Yen, additional, Chevrier, Bernard, additional, Chich, Jean-François, additional, Chien, Jeremy, additional, Chimalapati, Suneeta, additional, Cho, Ki Joon, additional, Choi, Kwan Yong, additional, Chuang, Woei-Jer, additional, Chung, Chin Ha, additional, Chung, Ivy Yeuk Wah, additional, Clamagirand, Christine, additional, Clark, Ian M., additional, Clarke, Adrian K., additional, Clarke, Nicola E., additional, Clarke, Steven Gerard, additional, Clauziat, Philippe, additional, Clements, Judith A., additional, Coffinier, Catherine, additional, Cohen, Paul, additional, Colige, Alain, additional, Collignon, Anne, additional, Colloms, Sean D., additional, Conzelmann, Andreas, additional, Coombs, Graham H., additional, Cooney, Jakki C., additional, Cooper, Jonathan B., additional, Cooper, Max D., additional, Copeland, Nikki A., additional, Cottrell, Graeme S., additional, Coyle, Joseph T., additional, Craik, Charles S., additional, Creemers, John W.M., additional, Cretu, Daniela, additional, Croce, Jenifer, additional, Cross, Keith J., additional, Cueva, Rosario, additional, Cui, Sheng, additional, Cunha, Luis, additional, Cutting, Simon, additional, d’Enfert, Christophe, additional, D’Orchymont, Hugues, additional, Dahlbäck, Björn, additional, Dai, Shujia, additional, Dalbey, Ross E., additional, Dalton, John P., additional, Dando, Pam M., additional, Daniel, R.M., additional, Danilov, Sergei M., additional, Davies, Donna E., additional, De Araujo, Heloisa S., additional, De los Santos, Teresa, additional, de Luca, Viviana, additional, De Meester, Ingrid, additional, de Oliveira, Ana Karina, additional, de Oliveira, Eduardo Brandt, additional, De Oliveira, Pedro Lagerblad, additional, de Vos, Sarah, additional, Declercq, Jeroen, additional, Declercq, Wim, additional, Deghmane, Ala-Eddine, additional, Dekker, Niek, additional, Del Prete, Sonia, additional, Del Rosal, Marina, additional, Delmas, Bernard, additional, DeLotto, Robert, additional, Demidyuk, Ilya V., additional, Denison, Mark R., additional, Deussing, Jan M., additional, Devi, Lakshmi A., additional, Diamandis, Eleftherios P., additional, Diaz, Isabel, additional, Díaz-Perales, Araceli, additional, Dijkstra, Bauke W., additional, Ding, Yan, additional, Dixon, Jack E., additional, Dodt, Johannes, additional, Dokland, Terje, additional, Dolenc, Iztok, additional, Dong, Ningzheng, additional, Dong, Tran Cat, additional, Dong, Ying, additional, Dongre, Mitesh, additional, Donovan, Mark, additional, Dore, Timothy M., additional, Dorstyn, Loretta, additional, Dou, Hong, additional, Dou, Zhicheng, additional, Dougall, Annette M., additional, Drag, Marcin, additional, Dudley, Edward G., additional, Dunn, Ben M., additional, Dupuy, Bruno, additional, Duque-Magalhāes, Maria Conceicāo, additional, Durá, M. Asunción, additional, Eeckhout, Yves, additional, Eijsink, Vincent, additional, Eisen, Arthur Z., additional, Eissa, Azza, additional, Eklund, Sandra, additional, Eletr, Ziad M., additional, Ellis, Vincent, additional, Engel, Wolfgang, additional, Erdös, Ervin G., additional, Escalante, Teresa, additional, Estell, David A., additional, Etscheid, Michael, additional, Evans, Herbert J., additional, Everett, Roger D., additional, Faesen, Alex C., additional, Fahrenholz, Falk, additional, Fanjul-Fernández, Miriam, additional, Farady, Christopher J., additional, Feller, Georges, additional, Feng, Hong, additional, Fenster, Kurt M., additional, Férec, Claude, additional, Ferrari, Silvia, additional, Fingleton, Barbara, additional, Fisher, Jed F., additional, Fives-Taylor, Paula M., additional, Fong, Loren G., additional, Forneris, F., additional, Forster, Brian M., additional, Forster, Friedrich, additional, Foster, Simon J., additional, Foulon, Thierry, additional, Foundling, Stephen I., additional, Fox, Jay William, additional, Franzetti, Bruno, additional, Frasch, Alejandra P., additional, Freeze, Hudson H., additional, Frère, Jean-Marie, additional, Frey, Teryl K., additional, Fricke, Beate, additional, Fricker, Lloyd D., additional, Fridman, Rafael, additional, Froelich, Christopher J., additional, Fröhlich, Camilla, additional, Fu, Hsueh-Liang, additional, Fuhrmann, Cynthia N., additional, Fujimura, Satoshi, additional, Fujiwara, Hiroshi, additional, Fukushima, Jun, additional, Fukuyama, Keiichi, additional, Fuller, Robert S., additional, Fusek, Martin, additional, Gaboriaud, Christine, additional, Gache, Christian, additional, Gakh, Oleksandr, additional, Gal, Peter, additional, Gao, Junjun, additional, García-Sastre, Adolfo, additional, Gardiner, Donald L., additional, Gatehouse, John A., additional, Gaucher, G.M., additional, Gauthier, Francis, additional, Ghuysen, Jean-Marie, additional, Gibson, Wade, additional, Gillies, Jennifer, additional, Glaser, Elzbieta, additional, Glaser, Fabian, additional, Glickman, Michael H., additional, Goettig, Peter, additional, Goffin, Colette, additional, Gohda, Eiichi, additional, Goldberg, Alfred L., additional, Goldberg, Daniel E., additional, Goldberg, Gregory I., additional, Goldfarb, Nathan E., additional, Gomis-Rüth, F. Xavier, additional, Gopal, B., additional, Gorbalenya, Alexander E., additional, Gordon, Stuart G., additional, Gorrell, Mark D., additional, Götz, Friedrich, additional, Goulas, Theodoros, additional, Gouzy-Darmon, Cécile, additional, Govind, K., additional, Gráf, Lászlo, additional, Granados, Robert R., additional, Gräwert, Melissa Ann, additional, Gray, Douglas A., additional, Graycar, Thomas P., additional, Green, Jonathan A., additional, Gremski, Luiza Helena, additional, Groll, Michael, additional, Gromova, Tania Yu, additional, Gros, P., additional, Grubman, Marvin J., additional, Grunden, Amy M., additional, Gudmundsdóttir, Ágústa, additional, Guinand, Micheline, additional, Gully, Djamel, additional, Gustchina, Alla, additional, Gutiérrez, José María, additional, Ha, Byung Hak, additional, Haeggström, Jesper Z., additional, Hageman, James H., additional, Haiko, Johanna, additional, Hailfinger, Stephan, additional, Haitchi, Hans Michael, additional, Han, Ji Seon, additional, Hanquez, Chantal, additional, Harada, Minoru, additional, Hara-Nishimura, Ikuko, additional, Harboe, Marianne, additional, Härd, Torleif, additional, Harris, David A., additional, Hassiepen, Ulrich, additional, Hata, Shoji, additional, Hattori, Akira, additional, He, Rong-Qiao, additional, Heck, Albert J.R., additional, Hendricks, Dirk F., additional, Henrich, Bernhard, additional, Henriet, Patrick, additional, Hernández-Arana, Andrés, additional, Herrera-Camacho, Irma, additional, Heussipp, Gerhard, additional, Hibino, Toshihiko, additional, Hicks, P.M., additional, Hillman, Bradley I., additional, Hiraoka, B. Yukihiro, additional, Hiratake, Jun, additional, Hizukuri, Yohei, additional, Ho, Heng-Chien, additional, Hoa, Ngo Thi, additional, Hochstrasser, Mark, additional, Hodge, Kathryn M., additional, Hofmann, Theo, additional, Hohn, Thomas, additional, Hoidal, John R., additional, Höltje, Joachim-Volker, additional, Homma, Koichi J., additional, Honek, John F., additional, Hook, Vivian Y.H., additional, Hooper, John D., additional, Hooper, Nigel M., additional, Hosoi, Kazuo, additional, Howe, Christopher J., additional, Hruby, Dennis E., additional, Hseih, James J.-D., additional, Hsu, Chun-Chieh, additional, Huang, Tony T., additional, Huang, Tur-Fu, additional, Huet, Yoann, additional, Hughes, Clare, additional, Hugonnet, Jean-Emmanuel, additional, Huston, Adrienne L., additional, Ibrahim-Granet, Oumaïma, additional, Ichishima, Eiji, additional, Ikehara, Yukio, additional, Inagami, Tadashi, additional, Ingram, Jessica, additional, Isaac, R.E., additional, Isaya, Grazia, additional, Isaza, Clara E., additional, Ishii, Shin-ichi, additional, Isnard, Amandine, additional, Ito, Kiyoshi, additional, Ito, Koreaki, additional, Itoh, Yoshifumi, additional, Iturrioz, Xavier, additional, Iwanaga, Sadaaki, additional, Jack, Ralph W., additional, Jackson, Mel C., additional, James, Michael N.G., additional, Janata, Jiří, additional, Janoir, Claire, additional, Janska, Hanna, additional, Jarrell, Ken F., additional, Jaskolski, Mariusz, additional, Jaswal, Sheila S., additional, Jean, Ying Y., additional, Jenne, Dieter E., additional, Jeon, Young Joo, additional, Jiang, Ping, additional, Johnson, John E., additional, Johnson, Michael D., additional, Johnston, James A., additional, Jones, Amanda, additional, Jones, Elizabeth W., additional, Joudiou, Carine, additional, Juliano, Luiz, additional, Jung, Hea-Jin, additional, Jupp, Ray, additional, Kagawa, Todd F., additional, Kalbacher, Hubert, additional, Kamata, Yayoi, additional, Kaminogawa, Shuichi, additional, Kamio, Yoshiyuki, additional, Kaneda, Makoto, additional, Kang, Sung Gyun, additional, Kang, Sung Hwan, additional, Kania, Mary, additional, Kantyka, Tomasz, additional, Kanzawa, Nobuyuki, additional, Karim, Abdulkarim Y., additional, Kasumi, Takafumi, additional, Kataoka, Hiroaki, additional, Kaur, Hardeep, additional, Kawabata, Shun-Ichiro, additional, Kawaguchi, Mari, additional, Kay, John, additional, Kaynar, Murat, additional, Keiler, Kenneth C., additional, Kelly, R.M., additional, Kenton, Nathaniel T., additional, Kerr, Michael A., additional, Kersse, Kristof, additional, Kervinen, Jukka, additional, Kessler, Benedikt M., additional, Kessler, Efrat, additional, Khoronen, Timo K., additional, Kidd, Simon, additional, Kikkert, Marjolein, additional, Kilian, Mogens, additional, Kim, Do-Hyung, additional, Kim, Doyoun, additional, Kim, Eunice EunKyeong, additional, Kim, In Seop, additional, Kim, Jung-Gun, additional, Kim, Kyeong Kyu, additional, Kim, Kyung Hyun, additional, Kimber, Matthew S., additional, Kimura, Yukio, additional, Kirschke, Heidrun, additional, Kiso, Yoshiaki, additional, Kleanthous, Colin, additional, Klein, Jürgen R., additional, Klemba, Michael, additional, Kmiec, Beata, additional, Kobayashi, Hideyuki, additional, Kodama, Hiroyuki, additional, Koelsch, Gerald, additional, Kok, Jan, additional, Kolattukody, P.E., additional, Kolb, Fabrice A., additional, Kolmar, Harald, additional, Komori, Yumiko, additional, Konvalinka, Jan, additional, Korkmaz, Brice, additional, Kostrov, Sergey V., additional, Kräusslich, Hans-Georg, additional, Krczal, Gabi, additional, Kress, Lawrence F., additional, Kristjánsson, Magnüs Már, additional, Kučera, Tomáš, additional, Kukday, Sayali S., additional, Kumagai, Hidehiko, additional, Kumar, Sharad, additional, Kumarasiri, Malika, additional, Kumazaki, Takashi, additional, Kümmerer, Beate M., additional, Kuno, Kouji, additional, Kurkinen, Markku, additional, Kutejová, Eva, additional, Kveiborg, Marie, additional, Kwarciak, Agnieszka, additional, Laakkonen, Liisa, additional, Labrou, Nikolaos E., additional, Laing, Gavin D., additional, Lamppa, Gayle, additional, Langer, Thomas, additional, Laursen, Richard A., additional, Lawrenson, Richard A., additional, Layne, Matthew D., additional, Le Bonniec, Bernard F., additional, Leal, María C., additional, Lechan, Ronald M., additional, Lee, David H., additional, Lee, Irene, additional, Lee, Jae, additional, Lee, Kye Joon, additional, Lee, Soohee, additional, Lei, Xiaobo, additional, Leis, Jonathan, additional, LeMosy, Ellen K., additional, Lepage, Thierry, additional, Leppla, Stephen H., additional, Lesner, Adam, additional, Lessard, Ivan A.D., additional, Lhomond, Guy, additional, Li, Huilin, additional, Li, Shu-Ming, additional, Li, Weiguo, additional, Liao, Ta-Hsiu, additional, Liddington, Robert C., additional, Lieber, Toby, additional, Lijnen, H.R., additional, Lima, Christopher D., additional, Lin, Chen-Yong, additional, Lin, Gang, additional, Lin, Ming T., additional, Lin, Xinli, additional, Lin, Yee-Shin, additional, Lindsay, L.L., additional, Lipscomb, William N., additional, Little, John W., additional, Liu, Ching-Chuan, additional, Liu, Chuan-ju, additional, Lively, Mark O., additional, Livnat-Levanon, Nurit, additional, Ljungdahl, Per O., additional, Llorens-Cortes, Catherine, additional, Lobel, Peter, additional, Loh, Y. Peng, additional, Lohi, Jouko, additional, Lomonossoff, G.P., additional, Looze, Yvan, additional, López-Otin, Carlos, additional, Lopez-Quezada, Landys, additional, Loukas, Alex, additional, Lu, Long-Sheng, additional, Lundwall, Áke, additional, Luo, Liu-Ying, additional, Lupas, Andrei, additional, Luthe, Dawn S., additional, Lynch, Nicholas J., additional, Lyons, Peter J., additional, MacKay, Vivian L., additional, Macleod, Jesica M. Levingston, additional, Magdolen, Viktor, additional, Mainardi, Jean-Luc, additional, Mäkinen, Kauko K., additional, Mallari, Jeremy P., additional, Manandhar, Surya P., additional, Mandelbaum, Fajga R., additional, Manicone, Anne M., additional, Mansfeld, Johanna, additional, Marcotrigiano, Joseph, additional, Mares, Michael, additional, Marfany, Gemma, additional, Markland, Francis S., additional, Marokházi, Judith, additional, Marquis, Hélène, additional, Marr, Robert A., additional, Martegani, Enzo, additional, Martin, Erik W., additional, Martinez, Manuel, additional, Martins, L. Miguel, additional, Maruyama, Masato, additional, Maruyama, Masugi, additional, Maruyama, Sususmu, additional, Masaki, Takeharu, additional, Massoumi, Ramin, additional, Mathew, Rency T., additional, Matrisian, Lynn M., additional, Matsuda, Yoshihiro, additional, Matsushita, Osamu, additional, Matuschek, Marco, additional, Matušková, Anna, additional, Matúz, Krisztina, additional, Mauch, Cornelia, additional, Maurizi, Michael R., additional, Mayr, Lorenz M., additional, McCafferty, Dewey G., additional, McDonald, J. Ken, additional, McKerrow, James H., additional, McMillan, David, additional, Mecham, Robert P., additional, Mehta, Darshini P., additional, Meisinger, Chris, additional, Mellors, Alan, additional, Melton, Roger G., additional, Melvin, Jeffrey A., additional, Ménard, Robert, additional, Menéndez-Arias, Luis, additional, Menezes, Milene C., additional, Mesecar, Andrew, additional, Mesnage, Stéphane, additional, Meyer, Diane H., additional, Meyers, Gregor, additional, Michaelis, Susan, additional, Michalska, Karolina, additional, Mielicki, Wojciech P., additional, Mierau, Igor, additional, Mikoulinskaia, Galina V., additional, Miller, Charles G., additional, Miller, Lydia K., additional, Mills, John, additional, Mills, Kenneth V., additional, Min, Jinrong, additional, Mistou, Michel-Yves, additional, Misumi, Yoshio, additional, Miyoshi, Shin-ichi, additional, Mizutani, Shigehiko, additional, Mobashery, Shahriar, additional, Mochizuki, Satsuki, additional, Mock, William L., additional, Möhrlen, Frank, additional, Moiré, Nathalie, additional, Monahan, Paul E., additional, Moncada-Pazos, Angela, additional, Monnet, Véronique, additional, Monod, Michel, additional, Montecucco, Cesare, additional, Morelli, Laura, additional, Mori, Sumiko, additional, Morita, Takashi, additional, Morrissey, James H., additional, Morse, Richard J., additional, Mort, John S., additional, Mortensen, Uffe H., additional, Morty, Rory E., additional, Moss, Joel, additional, Motoshima, Hidemasa, additional, Mottram, Jeremy C., additional, Moura-da-Silva, Ana M., additional, Mudgett, Mary Beth, additional, Mundt, Egbert, additional, Murakami, Kazuo, additional, Murakami, Mario Tyago, additional, MurakamiMurofoshi, Kimiko, additional, Murao, Sawao, additional, Murphy, Gillian, additional, Murthy, M.R.N., additional, Muta, Tatsushi, additional, Myburgh, Elmarie, additional, Mzhavia, Nino, additional, Nabi, A.H.M. Nurun, additional, Nagase, Hideaki, additional, Nagle, Michael W., additional, Nägler, Dorit K., additional, Naik, Rajesh R., additional, Nair, Divya B., additional, Nakai, Toshiki, additional, Nakajima, Yoshitaka, additional, Nakamura, Yukio, additional, Nakatogawa, Hitoshi, additional, Nakayama, Toru, additional, Nalivaeva, Natalia N., additional, Nandi, Dipankar, additional, Nascimento-Silva, Maria Clara Leal, additional, Nasmyth, Kim, additional, Nathan, Carl F., additional, Navarro-García, Fernando, additional, Naves, Dayane Lorena, additional, Nedialkova, Danny D., additional, Neuman, Keir C., additional, Nguyen, Jeffrey-Tri, additional, Nguyen, Ky-Anh, additional, Niemirowicz, Gabriela T., additional, Nikai, Toshiaki, additional, Nishi, Eiichiro, additional, Nishii, Wataru, additional, Nishiyama, Makoto, additional, Nishiyama, Yasuhiro, additional, Noda, Masatoshi, additional, Nomura, Seiji, additional, Norioka, Shigemi, additional, Nsangou, Desire M.M., additional, O’Brien, Amornrat, additional, O’Connor, Michael B., additional, Oda, Kohei, additional, Odinokova, Irina V., additional, Oetjen, Joyce, additional, Ogura, Teru, additional, Ohman, Dennis E, additional, Ohsumi, Yoshinori, additional, Ojha, Mukti, additional, Okabe, Akinobu, additional, Okada, Yasunori, additional, Okamoto, Keinosuke, additional, Okuda, Kenji, additional, Okumura, Nobuaki, additional, Okuno, Takashi, additional, Oleson, Kjeld, additional, Oliveira de Giuseppe, Priscila, additional, Olivier, Martin, additional, Ono, Yasuko, additional, Oroszlan, Stephen, additional, Ota, Nobuyuki, additional, Ovadia, Michael, additional, O-Wang, Jiyang, additional, Oxvig, Claus, additional, Packer, Jeremy C.L., additional, Padilla-López, Sergio, additional, Paetzel, Mark, additional, Page, Michael J., additional, Page-McCaw, Andrea, additional, Paine, Mark J.I., additional, Park, Byoung Chul, additional, Park, Eunyong, additional, Park, John E., additional, Park, Pyong Woo, additional, Park, Sung Goo, additional, Parkin, Kirk L., additional, Parks, William C, additional, Paschoalin, Thaysa, additional, Pastore, Annalisa, additional, Patananan, Alexander Nikolich, additional, Paul, Sudhir, additional, Paulson, Henry L., additional, Pawel-Rammingen, Ulrich von, additional, Pearce, David A., additional, Pearson, Mark S., additional, Pei, Duanqing, additional, Pejler, Gunnar, additional, Pemberton, Alan D., additional, Peng, Jianhao, additional, Pernier, Julien, additional, Peters, Jan-Michael, additional, Pfirrmann, Thorsten, additional, Pham, Viet-Laï, additional, Pichová, Iva, additional, Pickering, Darren, additional, Piesse, Christophe, additional, Pignol, David, additional, Pike, Robert N., additional, Pinck, Lothaire, additional, Pirkle, Hubert, additional, Pitot, Henry C., additional, Plaut, Andrew G., additional, Ploegh, Hidde, additional, Polgár, László, additional, Porter, Corrine, additional, Postina, Rolf, additional, Potempa, Jan, additional, Poulsen, Knud, additional, Power, Scott D., additional, Pratt, Rex. F., additional, Prehna, Gerd, additional, Prévost, Gilles, additional, Pshezhetsky, Alexey V., additional, Qasim, Mohammad A., additional, Qian, Feng, additional, Qiu, Jiazhou, additional, Quesada, Víctor, additional, Radisky, Evette S., additional, Rader, Stephen D., additional, Raman, Kavita, additional, Ramsay, Andrew J., additional, Rancourt, Derrick E., additional, Ranjit, Najju, additional, Rao, Narayanam V., additional, Ratia, Kiira, additional, Rawlings, Neil D., additional, Rawson, Robert B., additional, Reddy, Vijay, additional, Redman, Colvin M., additional, Regonesi, Maria Elena, additional, Reichert, Andreas S., additional, Reichl, Antonia P., additional, Remaut, Han, additional, Remington, S. James, additional, Renatus, Martin, additional, Reverter, David, additional, Reynolds, Eric C., additional, Rholam, Mohamed, additional, Rice, Charles M., additional, Ridky, Todd W., additional, Riezman, Howard, additional, Rijken, D.C., additional, Rio, Marie-Christine, additional, Ritchie, Alison, additional, Robert-Baudouy, Janine, additional, Robinson, Mark W., additional, Robinson, Michael, additional, Rodriguez-Romero, Adela, additional, Rodriques, Renata Santos, additional, Rogers, John C., additional, Rojas, Camilo, additional, Romesberg, Floyd E., additional, Roper, David J., additional, Rosas-Murrieta, Nora, additional, Rose, A.M., additional, Rosenthal, Philip J., additional, Rosing, J., additional, Rossetto, Ornella, additional, Rossi, Véronique, additional, Roth, Richard A., additional, Rottensteiner, Hanspeter, additional, Rowan, Andrew D., additional, Rozanov, Mikhail, additional, Rucavado, Alexandra, additional, Ruecker, Andrea, additional, Rul, Françoise, additional, Rümenapf, Till, additional, Russo, Ilaria, additional, Ryan, Martin D., additional, Sacco, Elena, additional, Sadler, J. Evan, additional, Saenger, W., additional, Sahl, Hans-Georg, additional, Sajid, Mohammed, additional, Sakaguchi, Masayoshi, additional, Sakiyama, Fumio, additional, Salas, Maria L., additional, Salgado, Maria Cristina O., additional, Salvesen, Guy S., additional, Sánchez, Edith, additional, Sanchez, Eladio F., additional, Sang, Qing-Xiang Amy, additional, Sankaran, Krishnan, additional, Sarkar, Susanta K., additional, Sarras, Michael P., additional, Sasagawa, Yoshikiyo, additional, Satohiko, Araki, additional, Sauvage, Eric, additional, Saveanu, Loredana, additional, Savithri, H.S., additional, Sawada, Hitoshi, additional, Sawers, R. Gary, additional, Scarisbrick, Isobel A., additional, Schaller, Andreas, additional, Scheer, Justin M., additional, Scheiflinger, Friedrich, additional, Schiene-Fischer, Cordelia, additional, Schlomann, Uwe, additional, Schlösser, Manfred, additional, Schmaier, Alvin H., additional, Schmidt, Walter K., additional, Schneemann, Anette, additional, Schnellmann, Rick G., additional, Scholze, Henning, additional, Schomburg, Lutz, additional, Schwaeble, Wilhelm J., additional, Scott, Christopher J., additional, Scudiero, Rosaria, additional, Sehara-Fujisawa, Atsuko, additional, Seidah, Nabil G., additional, Seiki, Motoharu, additional, Sekiguchi, Junichi, additional, Senff-Ribeiro, Andrea, additional, Seong, Ihn Sik, additional, Serpe, Mihaela, additional, Serrano, Solange M.T., additional, Setlow, Peter, additional, Shahian, Tina, additional, Shanks, M., additional, Shao, Feng, additional, Shapiro, Steven D., additional, Sharma, Navneet, additional, Shaw, Lindsey N., additional, Shen, 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Hiroyuki, additional, Soukhodolets, Karen E., additional, Souza, Tatiana de Arruda Campos Brasil de, additional, Sperka, Tamás, additional, Sriskandan, Shiranee, additional, St. Geme, Joseph W., additional, St. Leger, Raymond J., additional, Staib, Peter, additional, Steele, James L., additional, Stefansson, Bjarki, additional, Steinkühler, Christian, additional, Stenberg, Leisa M., additional, Stenflo, Johan, additional, Stennicke, Henning R., additional, Stepanov, Valentin M., additional, Stepnaya, Olga A., additional, Steven, Frank, additional, Stevens, Richard L., additional, Stevenson, Kenneth J., additional, St-Louis, Mathieu, additional, Stobart, Christopher C., additional, Stöcker, Walter, additional, Storer, Andrew C., additional, Sträter, Norbert, additional, Strauss, Ellen G., additional, Strauss, James H., additional, Stříšovský, Kvido, additional, Strynadka, Natalie C.J., additional, Sturrock, Edward D., additional, Su, Dan, additional, Su, Xiao-Dong, additional, Suárez-Rendueles, Paz, additional, Sulea, Traian, additional, Sundararajan, Venkatesh, additional, Suno, Ryoji, additional, Suzuki, Carolyn K., additional, Suzuki, Fumiaki, additional, Suzuki, Hideyuki, additional, Suzuki, Nobuhiro, additional, Swenson, Stephen, additional, Szabady, Rose L., additional, Szecsi, Pal Bela, additional, Szilágyi, Lászlo, additional, Taha, Muhamed-Kheir, additional, Takahashi, Eizo, additional, Takahashi, Kenji, additional, Takai, Toshiro, additional, Takeda, Atsushi, additional, Takeda, Soichi, additional, Tame, Jeremy J.R.H., additional, Tamura, Tomohiro, additional, Tan, Fulong, additional, Tanaka, Keiji, additional, Tanase, Carmen, additional, Tang, Jordan, additional, Tanizaki, Martha M., additional, Tannich, Egbert, additional, Tans, Guido, additional, Tarentino, Anthony L., additional, Tassanakajon, Anchalee, additional, Tatsumi, Hiroki, additional, Tautz, Norbert, additional, Taylor, Erin Bassford, additional, Teixeira, Pedro Filipe, additional, 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Fred, additional, Wolfe, Michael S., additional, Wong, Wilson, additional, Woodgate, Roger, additional, Wright, Gerry, additional, Wu, Jiunn-Jong, additional, Wu, Qingyu, additional, Wysocka, Magdalena, additional, Xu, Chao, additional, Xu, Zhenghong, additional, Yahori, Kinnosuke, additional, Yamada, Shoji, additional, Yamaguchi, Nozomi, additional, Yamaguchi, Shinji, additional, Yamakawa, Yoshio, additional, Yamamoto, Hiroki, additional, Yana, Ikao, additional, Yang, Maozhou, additional, Yang, Na, additional, Yao, Chenjuan, additional, Yao, Tingting, additional, Yasuda, Noriko, additional, Yasuhara, Toshimasa, additional, Yasumasu, Shigeki, additional, Yeh, Edward T.H., additional, Yiallouros, Irene, additional, Yin, Jiang, additional, Yonezawa, Hiroo, additional, Yoo, Soon Ji, additional, Yoshimoto, Tadashi, additional, Young, Michael W., additional, Young, Stephen G., additional, Zaidi, Nousheen, additional, Zavalova, Ludmila L., additional, Zavodszky, Peter, additional, Zhang, Aidong, additional, Zhang, Xianming, additional, Zhang, Yi-Zheng, additional, Zheng, Dominick, additional, Zhong, Guangming, additional, Zhong, Rong, additional, Zhou, Yuan, additional, Zhou, Zhaohui Sunny, additional, Zick, Michael, additional, Zigrino, Paola, additional, and Zimin, Andrei A., additional

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2013
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