Search

Your search keyword '"Pras-Raves, Mia"' showing total 169 results
Start Over Author "Pras-Raves, Mia"
169 results on '"Pras-Raves, Mia"'

1. A conserved complex lipid signature marks human muscle aging and responds to short-term exercise

Author

Janssens, Georges E., Molenaars, Marte, Herzog, Katharina, Grevendonk, Lotte, Remie, Carlijn M. E., Vervaart, Martin A. T., Elfrink, Hyung L., Wever, Eric J. M., Schomakers, Bauke V., Denis, Simone W., Waterham, Hans R., Pras-Raves, Mia L., van Weeghel, Michel, van Kampen, Antoine H. C., Tammaro, Alessandra, Butter, Loes M., van der Rijt, Sanne, Florquin, Sandrine, Jongejan, Aldo, Moerland, Perry D., Hoeks, Joris, Schrauwen, Patrick, Vaz, Frédéric M., and Houtkooper, Riekelt H.

Published
2024
Full Text
View/download PDF

4. CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Author

van Karnebeek, Clara D.M., Tarailo-Graovac, Maja, Leen, René, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drögemöller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R.J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michèl A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frédéric M., Wasserman, Wyeth W., Houtkooper, Riekelt H., and van Kuilenburg, André B.P.

Published
2024
Full Text
View/download PDF

6. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

Author

Ferdinandusse, Sacha, McWalter, Kirsty, Te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M, Ruiter, Jos PN, van Lint, Alida EM, Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J, Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L, Sell, Susan L, Nowak, Catherine B, Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V, Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A, Macnamara, Ellen F, Wolfe, Lynne, Undiagnosed Diseases Network, Waisfisz, Quinten, Zwijnenburg, Petra JG, Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C, van Kampen, Antoine HC, Wanders, Ronald JA, Waterham, Hans R, Cassiman, David, and Vaz, Frédéric M

Subjects
Undiagnosed Diseases Network, Humans, Spastic Paraplegia, Hereditary, Ethers, Aldehyde Oxidoreductases, Lipids, Phenotype, Neurosciences, Genetics, Clinical Research, Pediatric, 2.1 Biological and endogenous factors, Neurological, Genetics & Heredity, Clinical Sciences
Abstract

PurposeIn this study we investigate the disease etiology in 12 patients with de novo variants in FAR1 all resulting in an amino acid change at position 480 (p.Arg480Cys/His/Leu).MethodsFollowing next-generation sequencing and clinical phenotyping, functional characterization was performed in patients' fibroblasts using FAR1 enzyme analysis, FAR1 immunoblotting/immunofluorescence, and lipidomics.ResultsAll patients had spastic paraparesis and bilateral congenital/juvenile cataracts, in most combined with speech and gross motor developmental delay and truncal hypotonia. FAR1 deficiency caused by biallelic variants results in defective ether lipid synthesis and plasmalogen deficiency. In contrast, patients' fibroblasts with the de novo FAR1 variants showed elevated plasmalogen levels. Further functional studies in fibroblasts showed that these variants cause a disruption of the plasmalogen-dependent feedback regulation of FAR1 protein levels leading to uncontrolled ether lipid production.ConclusionHeterozygous de novo variants affecting the Arg480 residue of FAR1 lead to an autosomal dominant disorder with a different disease mechanism than that of recessive FAR1 deficiency and a diametrically opposed biochemical phenotype. Our findings show that for patients with spastic paraparesis and bilateral cataracts, FAR1 should be considered as a candidate gene and added to gene panels for hereditary spastic paraplegia, cerebral palsy, and juvenile cataracts.

Published
2021

7. The shifting lipidomic landscape of blood monocytes and neutrophils during pneumonia

Author

Schuurman, Alex R., primary, Chouchane, Osoul, additional, Butler, Joe M., additional, Peters-Sengers, Hessel, additional, Joosten, Sebastiaan, additional, Brands, Xanthe, additional, Haak, Bastiaan W., additional, Otto, Natasja A., additional, Uhel, Fabrice, additional, Klarenbeek, Augustijn, additional, van Linge, Christine C.A., additional, van Kampen, Antoine, additional, Pras-Raves, Mia, additional, van Weeghel, Michel, additional, van Eijk, Marco, additional, Ferraz, Maria J., additional, Faber, Daniël R., additional, de Vos, Alex, additional, Scicluna, Brendon P., additional, Vaz, Frédéric M., additional, Wiersinga, W. Joost, additional, and van der Poll, Tom, additional

Published
2024
Full Text
View/download PDF

8. CIAO1 and MMS19 de fi ciency : A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Author

van Karnebeek, Clara D. M., Tarailo-Graovac, Maja, Leen, Rene, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drogemoller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R. J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michel A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frederic M., Wassermann, Wyeth W., Houtkooper, Riekelt H., van Kuilenburg, Andre B. P., van Karnebeek, Clara D. M., Tarailo-Graovac, Maja, Leen, Rene, Meinsma, Rutger, Correard, Solenne, Jansen-Meijer, Judith, Prykhozhij, Sergey V., Pena, Izabella A., Ban, Kevin, Schock, Sarah, Saxena, Vishal, Pras-Raves, Mia L., Drogemoller, Britt I., Grootemaat, Anita E., van der Wel, Nicole N., Dobritzsch, Doreen, Roseboom, Winfried, Schomakers, Bauke V., Jaspers, Yorrick R. J., Zoetekouw, Lida, Roelofsen, Jeroen, Ferreira, Carlos R., van der Lee, Robin, Ross, Colin J., Kochan, Jakub, McIntyre, Rebecca L., van Klinken, Jan B., van Weeghel, Michel, Kramer, Gertjan, Weschke, Bernhard, Labrune, Philippe, Willemsen, Michel A., Riva, Daria, Garavaglia, Barbara, Moeschler, John B., Filiano, James J., Ekker, Marc, Berman, Jason N., Dyment, David, Vaz, Frederic M., Wassermann, Wyeth W., Houtkooper, Riekelt H., and van Kuilenburg, Andre B. P.

Abstract

Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders of the cytosolic iron-sulfur protein assembly system. Methods: Genetic testing via genome sequencing was applied to identify the underlying disease cause in 3 patients with microcephaly, congenital brain malformations, progressive developmental and neurologic impairments, recurrent infections, and a fatal outcome. Studies in patient-derived skin fibroblasts and zebrafish models were performed to investigate the biochemical and cellular consequences. Results: Metabolic analysis showed elevated uracil and thymine levels in body fluids but no pathogenic variants in DPYD, encoding dihydropyrimidine dehydrogenase. Genome sequencing identified compound heterozygosity in 2 patients for missense variants in CIAO1, encoding cytosolic iron-sulfur assembly component 1, and homozygosity for an in-frame 3-nucleotide deletion in MMS19, encoding the MMS19 homolog, cytosolic iron-sulfur assembly component, in the third patient. Profound alterations in the proteome, metabolome, and lipidome were observed in patient-derived fibroblasts. We confirmed the detrimental effect of deficiencies in CIAO1 and MMS19 in zebrafish models. Conclusion: A general failure of cytosolic and nuclear iron-sulfur protein maturation caused pleiotropic effects. The critical function of the cytosolic iron-sulfur protein assembly machinery for antiviral host defense may well explain the recurrent severe infections occurring in our patients. (c) 2024 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

Published
2024
Full Text
View/download PDF

10. Defining functional classes of Barth syndrome mutation in humans

Author

Lu, Ya-Wen, Galbraith, Laura, Herndon, Jenny D, Lu, Ya-Lin, Pras-Raves, Mia, Vervaart, Martin, Van Kampen, Antoine, Luyf, Angela, Koehler, Carla M, McCaffery, J Michael, Gottlieb, Eyal, Vaz, Frederic M, and Claypool, Steven M

Subjects
Genetics, Pediatric, Congenital Structural Anomalies, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Acyltransferases, Animals, Barth Syndrome, Cells, Cultured, Fibroblasts, HEK293 Cells, Humans, Mice, Mitochondria, Heart, Mitochondria, Liver, Mutation, Protein Isoforms, Skin, Transcription Factors, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

The X-linked disease Barth syndrome (BTHS) is caused by mutations in TAZ; TAZ is the main determinant of the final acyl chain composition of the mitochondrial-specific phospholipid, cardiolipin. To date, a detailed characterization of endogenous TAZ has only been performed in yeast. Further, why a given BTHS-associated missense mutation impairs TAZ function has only been determined in a yeast model of this human disease. Presently, the detailed characterization of yeast tafazzin harboring individual BTHS mutations at evolutionarily conserved residues has identified seven distinct loss-of-function mechanisms caused by patient-associated missense alleles. However, whether the biochemical consequences associated with individual mutations also occur in the context of human TAZ in a validated mammalian model has not been demonstrated. Here, utilizing newly established monoclonal antibodies capable of detecting endogenous TAZ, we demonstrate that mammalian TAZ, like its yeast counterpart, is localized to the mitochondrion where it adopts an extremely protease-resistant fold, associates non-integrally with intermembrane space-facing membranes and assembles in a range of complexes. Even though multiple isoforms are expressed at the mRNA level, only a single polypeptide that co-migrates with the human isoform lacking exon 5 is expressed in human skin fibroblasts, HEK293 cells, and murine heart and liver mitochondria. Finally, using a new genome-edited mammalian BTHS cell culture model, we demonstrate that the loss-of-function mechanisms for two BTHS alleles that represent two of the seven functional classes of BTHS mutation as originally defined in yeast, are the same when modeled in human TAZ.

Published
2016

11. A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

Author

Willems, Anke P., primary, van der Ham, Maria, additional, Schiebergen-Bronkhorst, Birgit G. M., additional, van Aalderen, Mirjam, additional, de Barse, Martina M. J., additional, De Gruyter, Fini E., additional, van Hoek, Ilja N., additional, Pras-Raves, Mia L., additional, de Sain-van der Velden, Monique G. M., additional, Prinsen, Hubertus C. M. T., additional, Verhoeven-Duif, Nanda M., additional, and Jans, Judith J. M., additional

Published
2023
Full Text
View/download PDF

14. Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis

Author

Darwisch, Warda, von Spangenberg, Marino, Lehmann, Jana, Singin, Öznur, Deubert, Geralt, Kühl, Sandra, Roos, Johannes, Horstmann, Heinz, Körber, Christoph, Hoppe, Simone, Zheng, Hongwei, Kuner, Thomas, Pras-Raves, Mia L., van Kampen, Antoine H. C., Waterham, Hans R., Schwarz, Kathrin V., Okun, Jürgen G., Schultz, Christian, Vaz, Frédéric M., and Islinger, Markus

Published
2020
Full Text
View/download PDF

18. Alterations in ether lipid metabolism and the consequences for the mouse lipidome

Author

Lackner, Katharina, primary, Sailer, Sabrina, additional, van Klinken, Jan-Bert, additional, Wever, Eric, additional, Pras-Raves, Mia L., additional, Dane, Adrie D., additional, Honsho, Masanori, additional, Abe, Yuichi, additional, Keller, Markus A., additional, Golderer, Georg, additional, Werner-Felmayer, Gabriele, additional, Fujiki, Yukio, additional, Vaz, Frédéric M., additional, Werner, Ernst R., additional, and Watschinger, Katrin, additional

Published
2023
Full Text
View/download PDF

19. A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases

Author

Genetica Sectie Metabole Diagnostiek, Genetica Lab. Metabole Diagnostiek, Genetica Medische Informatica, Child Health, Genetica, Cancer, Brain, Willems, Anke P, van der Ham, Maria, Schiebergen-Bronkhorst, Birgit G M, van Aalderen, Mirjam, de Barse, Martina M J, De Gruyter, Fini E, van Hoek, Ilja N, Pras-Raves, Mia L, de Sain-van der Velden, Monique G M, Prinsen, Hubertus C M T, Verhoeven-Duif, Nanda M, Jans, Judith J M, Genetica Sectie Metabole Diagnostiek, Genetica Lab. Metabole Diagnostiek, Genetica Medische Informatica, Child Health, Genetica, Cancer, Brain, Willems, Anke P, van der Ham, Maria, Schiebergen-Bronkhorst, Birgit G M, van Aalderen, Mirjam, de Barse, Martina M J, De Gruyter, Fini E, van Hoek, Ilja N, Pras-Raves, Mia L, de Sain-van der Velden, Monique G M, Prinsen, Hubertus C M T, Verhoeven-Duif, Nanda M, and Jans, Judith J M

Published
2023

21. Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways

Author

Hermans, Merel E., primary, van Weeghel, Michel, additional, Vaz, Frédéric M., additional, Ferdinandusse, Sacha, additional, Hollak, Carla E. M., additional, Huidekoper, Hidde H., additional, Janssen, Mirian C. H., additional, van Kuilenburg, André B. P., additional, Pras‐Raves, Mia L., additional, Wamelink, Mirjam M. C., additional, Wanders, Ronald J. A., additional, Welsink‐Karssies, Mendy M., additional, and Bosch, Annet M., additional

Published
2022
Full Text
View/download PDF

22. Adaptations of the 3T3-L1 adipocyte lipidome to defective ether lipid catabolism upon alkylglycerol monooxygenase knockdown

Author

Sailer, Sabrina, primary, Lackner, Katharina, additional, Pras-Raves, Mia L., additional, Wever, Eric J.M., additional, van Klinken, Jan B., additional, Dane, Adriaan D., additional, Geley, Stephan, additional, Koch, Jakob, additional, Golderer, Georg, additional, Werner-Felmayer, Gabriele, additional, Keller, Markus A., additional, Zwerschke, Werner, additional, Vaz, Frédéric M., additional, Werner, Ernst R., additional, and Watschinger, Katrin, additional

Published
2022
Full Text
View/download PDF

23. Multi-omics in classical galactosemia:Evidence for the involvement of multiple metabolic pathways

Author

Hermans, Merel E., van Weeghel, Michel, Vaz, Frederic M., Ferdinandusse, Sacha, Hollak, Carla E. M., Huidekoper, Hidde H., Janssen, Mirian C. H., van Kuilenburg, Andre B. P., Pras-Raves, Mia L., Wamelink, Mirjam M. C., Wanders, Ronald J. A., Welsink-Karssies, Mendy M., Bosch, Annet M., Hermans, Merel E., van Weeghel, Michel, Vaz, Frederic M., Ferdinandusse, Sacha, Hollak, Carla E. M., Huidekoper, Hidde H., Janssen, Mirian C. H., van Kuilenburg, Andre B. P., Pras-Raves, Mia L., Wamelink, Mirjam M. C., Wanders, Ronald J. A., Welsink-Karssies, Mendy M., and Bosch, Annet M.

Abstract

Classical galactosemia (CG) is one of the more frequent inborn errors of metabolism affecting approximately 1:40.000 people. Despite a life-saving galactose-restricted diet, patients develop highly variable long-term complications including intellectual disability and movement disorders. The pathophysiology of these complications is still poorly understood and development of new therapies is hampered by a lack of valid prognostic biomarkers. Multi-omics approaches may discover new biomarkers and improve prediction of patient outcome. In the current study, (semi-)targeted mass-spectrometry based metabolomics and lipidomics were performed in erythrocytes of 40 patients with both classical and variant phenotypes and 39 controls. Lipidomics did not show any significant changes or deficiencies. The metabolomics analysis revealed that CG does not only compromise the Leloir pathway, but also involves other metabolic pathways including glycolysis, the pentose phosphate pathway, and nucleotide metabolism in the erythrocyte. Moreover, the energy status of the cell appears to be compromised, with significantly decreased levels of ATP and ADP. This possibly is the consequence of two different mechanisms: impaired formation of ATP from ADP possibly due to reduced flux though the glycolytic pathway and trapping of phosphate in galactose-1-phosphate (Gal-1P) which accumulates in CG. Our findings are in line with the current notion that the accumulation of Gal-1P plays a key role in the pathophysiology of CG not only by depletion of intracellular phosphate levels but also by decreasing metabolite abundance downstream in the glycolytic pathway and affecting other pathways. New therapeutic options for CG could be directed towards the restoration of intracellular phosphate homeostasis.

Published
2022

27. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Author

Ferdinandusse, Sacha, primary, McWalter, Kirsty, additional, te Brinke, Heleen, additional, IJlst, Lodewijk, additional, Mooijer, Petra M., additional, Ruiter, Jos P.N., additional, van Lint, Alida E.M., additional, Pras-Raves, Mia, additional, Wever, Eric, additional, Millan, Francisca, additional, Guillen Sacoto, Maria J., additional, Begtrup, Amber, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Ladda, Roger L., additional, Sell, Susan L., additional, Nowak, Catherine B., additional, Douglas, Jessica, additional, Tian, Cuixia, additional, Ulm, Elizabeth, additional, Perlman, Seth, additional, Drack, Arlene V., additional, Chong, Karen, additional, Martin, Nicole, additional, Brault, Jennifer, additional, Brokamp, Elly, additional, Toro, Camilo, additional, Gahl, William A., additional, Macnamara, Ellen F., additional, Wolfe, Lynne, additional, Alejandro, Mercedes E., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Burrage, Lindsay C., additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Craigen, William J., additional, Dai, Hongzheng, additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Goldman, Alica M., additional, Hanchard, Neil A., additional, Jamal, Fariha, additional, Karaviti, Lefkothea, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Marom, Ronit, additional, Moretti, Paolo M., additional, Murdock, David R., additional, Nicholas, Sarah K., additional, Orengo, James P., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Samson, Susan L., additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Vogel, Tiphanie P., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Liu, Pengfei, additional, Ward, Patricia A., additional, Behrens, Edward, additional, Deardorff, Matthew, additional, Falk, Marni, additional, Hassey, Kelly, additional, Sullivan, Kathleen, additional, Vanderver, Adeline, additional, Goldstein, David B., additional, Cope, Heidi, additional, McConkie-Rosell, Allyn, additional, Schoch, Kelly, additional, Shashi, Vandana, additional, Smith, Edward C., additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Tan, Queenie K.-G., additional, Walley, Nicole M., additional, Agrawal, Pankaj B., additional, Beggs, Alan H., additional, Berry, Gerard T., additional, Briere, Lauren C., additional, Cobban, Laurel A., additional, Coggins, Matthew, additional, Cooper, Cynthia M., additional, Fieg, Elizabeth L., additional, High, Frances, additional, Holm, Ingrid A., additional, Korrick, Susan, additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J. Carl, additional, Rao, Deepak A., additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walker, Melissa, additional, Walsh, Chris A., additional, Esteves, Cecilia, additional, Kelley, Emily G., additional, Kohane, Isaac S., additional, LeBlanc, Kimberly, additional, McCray, Alexa T., additional, Nagy, Anna, additional, Dasari, Surendra, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Morava, Eva, additional, Oglesbee, Devin, additional, Bademci, Guney, additional, Barbouth, Deborah, additional, Bivona, Stephanie, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Forghani, Irman, additional, Grajewski, Alana, additional, Isasi, Rosario, additional, Lam, Byron, additional, Levitt, Roy, additional, Liu, Xue Zhong, additional, McCauley, Jacob, additional, Sacco, Ralph, additional, Saporta, Mario, additional, Schaechter, Judy, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Zuchner, Stephan, additional, Colley, Heather A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Findley, Laurie C., additional, Krasnewich, Donna M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, LaMoure, Grace L., additional, Goldrich, Madison P., additional, Urv, Tiina K., additional, Doss, Argenia L., additional, Acosta, Maria T., additional, Bonnenmann, Carsten, additional, D’Souza, Precilla, additional, Draper, David D., additional, Ferreira, Carlos, additional, Godfrey, Rena A., additional, Groden, Catherine A., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, Nath, Avi, additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Wahl, Colleen E., additional, Baker, Eva, additional, Burke, Elizabeth A., additional, Adams, David R., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Yang, John, additional, Power, Bradley, additional, Gochuico, Bernadette, additional, Huryn, Laryssa, additional, Latham, Lea, additional, Davis, Joie, additional, Mosbrook-Davis, Deborah, additional, Rossignol, Francis, additional, Solomon, Ben, additional, MacDowall, John, additional, Thurm, Audrey, additional, Zein, Wadih, additional, Yousef, Muhammad, additional, Adam, Margaret, additional, Amendola, Laura, additional, Bamshad, Michael, additional, Beck, Anita, additional, Bennett, Jimmy, additional, Berg-Rood, Beverly, additional, Blue, Elizabeth, additional, Boyd, Brenna, additional, Byers, Peter, additional, Chanprasert, Sirisak, additional, Cunningham, Michael, additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Earl, Dawn, additional, Glass, Ian, additional, Golden-Grant, Katie, additional, Hahn, Sihoun, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Horike-Pyne, Martha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Lam, Christina, additional, Maravilla, Kenneth, additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Mirzaa, Ghayda, additional, Nickerson, Deborah, additional, Raskind, Wendy, additional, Rosenwasser, Natalie, additional, Scott, C. Ron, additional, Sun, Angela, additional, Sybert, Virginia, additional, Wallace, Stephanie, additional, Wener, Mark, additional, Wenger, Tara, additional, Ashley, Euan A., additional, Bejerano, Gill, additional, Bernstein, Jonathan A., additional, Bonner, Devon, additional, Coakley, Terra R., additional, Fernandez, Liliana, additional, Fisher, Paul G., additional, Fresard, Laure, additional, Hom, Jason, additional, Huang, Yong, additional, Kohler, Jennefer N., additional, Kravets, Elijah, additional, Majcherska, Marta M., additional, Martin, Beth A., additional, Marwaha, Shruti, additional, McCormack, Colleen E., additional, Raja, Archana N., additional, Reuter, Chloe M., additional, Ruzhnikov, Maura, additional, Sampson, Jacinda B., additional, Smith, Kevin S., additional, Sutton, Shirley, additional, Tabor, Holly K., additional, Tucker, Brianna M., additional, Wheeler, Matthew T., additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Byrd, William E., additional, Crouse, Andrew B., additional, Might, Matthew, additional, Nakano-Okuno, Mariko, additional, Whitlock, Jordan, additional, Brown, Gabrielle, additional, Butte, Manish J., additional, Dell’Angelica, Esteban C., additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Fogel, Brent L., additional, Gutierrez, Irma, additional, Huang, Alden, additional, Krakow, Deborah, additional, Lee, Hane, additional, Loo, Sandra K., additional, Mak, Bryan C., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, McGee, Elisabeth, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Renteria, Genecee, additional, Signer, Rebecca H., additional, Sinsheimer, Janet S., additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Perry, Katherine Wesseling, additional, Woods, Jeremy D., additional, Alvey, Justin, additional, Andrews, Ashley, additional, Bale, Jim, additional, Bohnsack, John, additional, Botto, Lorenzo, additional, Carey, John, additional, Pace, Laura, additional, Longo, Nicola, additional, Marth, Gabor, additional, Moretti, Paolo, additional, Quinlan, Aaron, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Bayrak-Toydemir, Pinar, additional, Mao, Rong, additional, Westerfield, Monte, additional, Bican, Anna, additional, Duncan, Laura, additional, Hamid, Rizwan, additional, Kennedy, Jennifer, additional, Kozuira, Mary, additional, Newman, John H., additional, Phillips, John A., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Solem, Emily, additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Hayes, Nichole, additional, Kiley, Dana, additional, Sisco, Kathy, additional, Wambach, Jennifer, additional, Wegner, Daniel, additional, Baldridge, Dustin, additional, Pak, Stephen, additional, Schedl, Timothy, additional, Shin, Jimann, additional, Solnica-Krezel, Lilianna, additional, Waisfisz, Quinten, additional, Zwijnenburg, Petra J.G., additional, Ziegler, Alban, additional, Barth, Magalie, additional, Smith, Rosemarie, additional, Ellingwood, Sara, additional, Gaebler-Spira, Deborah, additional, Bakhtiari, Somayeh, additional, Kruer, Michael C., additional, van Kampen, Antoine H.C., additional, Wanders, Ronald J.A., additional, Waterham, Hans R., additional, Cassiman, David, additional, and Vaz, Frédéric M., additional

Published
2021
Full Text
View/download PDF

28. Circadian misalignment disturbs the skeletal muscle lipidome in healthy young men

Author

Harmsen, Jan‐Frieder, primary, van Polanen, Nynke, additional, van Weeghel, Michel, additional, Wefers, Jakob, additional, Hoeks, Joris, additional, Vaz, Frédéric M., additional, Pras‐Raves, Mia L., additional, van Kampen, Antoine H. C., additional, Schaart, Gert, additional, van Moorsel, Dirk, additional, Hansen, Jan, additional, Hesselink, Matthijs K. C., additional, Houtkooper, Riekelt H., additional, and Schrauwen, Patrick, additional

Published
2021
Full Text
View/download PDF

29. Correction to:An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

Author

Ferdinandusse, Sacha, McWalter, Kirsty, te Brinke, Heleen, IJlst, Lodewijk, Mooijer, Petra M., Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Millan, Francisca, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Brady, Lauren, Ladda, Roger L., Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Tian, Cuixia, Ulm, Elizabeth, Perlman, Seth, Drack, Arlene V., Chong, Karen, Martin, Nicole, Brault, Jennifer, Brokamp, Elly, Toro, Camilo, Gahl, William A., Macnamara, Ellen F., Wolfe, Lynne A., Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo, Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Jennifer A., Tan, Queenie K.G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Malicdan, May Christine V., Tifft, Cynthia J., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Solomon, Ben, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., Phillips, John A., Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Ziegler, Alban, Barth, Magalie, Smith, Rosemarie, Ellingwood, Sara, Gaebler-Spira, Deborah, Bakhtiari, Somayeh, Kruer, Michael C., van Kampen, Antoine H.C., Wanders, Ronald J.A., Waterham, Hans R., Cassiman, David, Vaz, Frédéric M., Clinical chemistry, Human genetics, ACS - Atherosclerosis & ischemic syndromes, and Amsterdam Reproduction & Development (AR&D)

Abstract

In the original author list, Seth Perlman’s degrees were listed as MD, PhD. Dr Perlman’s degree is MD. The original version has been corrected.

Published
2021

30. Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation

Author

Molenaars, Marte, Schomakers, Bauke, Elfrink, Hyung, Gao, Arwen W., Vervaart, Martin, Pras-Raves, Mia, Luyf, Angela, Smith, Reuben L., Sterken, M.G., Kammenga, J.E., Van Kampen, Antoine H.C., Janssens, Georges, Vaz, Frederic, van Weeghel, Michel, Houtkooper, Riekelt H., Molenaars, Marte, Schomakers, Bauke, Elfrink, Hyung, Gao, Arwen W., Vervaart, Martin, Pras-Raves, Mia, Luyf, Angela, Smith, Reuben L., Sterken, M.G., Kammenga, J.E., Van Kampen, Antoine H.C., Janssens, Georges, Vaz, Frederic, van Weeghel, Michel, and Houtkooper, Riekelt H.

Abstract

Comprehensive metabolomic and lipidomic mass spectrometry methods are in increasing demand, for instance in research related to nutrition and aging. The nematode C. elegans is a key model organism in these fields, due to the large repository of available C. elegans mutants and their convenient natural lifespan. Here, we describe a robust and sensitive analytical method for the semi-quantitative analysis of >100 polar (metabolomics) and >1000 apolar (lipidomics) metabolites in C. elegans, using a single sample preparation. Our method is capable of reliably detecting a wide variety of biologically relevant metabolic aberrations in, for instance, glycolysis and the TCA cycle, pyrimidine metabolism and complex lipid biosynthesis. In conclusion, we provide a powerful analytical tool that maximizes metabolic data yield from a single sample.

Published
2021

31. Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation

Author

Molenaars, Marte, primary, Schomakers, Bauke V., additional, Elfrink, Hyung L., additional, Gao, Arwen W., additional, Vervaart, Martin A. T., additional, Pras-Raves, Mia L., additional, Luyf, Angela C., additional, Smith, Reuben L., additional, Sterken, Mark G., additional, Kammenga, Jan E., additional, van Kampen, Antoine H. C., additional, Janssens, Georges E., additional, Vaz, Frédéric M., additional, van Weeghel, Michel, additional, and Houtkooper, Riekelt H., additional

Published
2021
Full Text
View/download PDF

32. Interplay between metabolic identities in the intestinal crypt supports stem cell function

Author

Rodrguez-Colman, Maria J., Schewe, Matthias, Meerlo, Maaike, Stigter, Edwin, Gerrits, Johan, Pras-Raves, Mia, Sacchetti, Andrea, Hornsveld, Marten, Oost, Koen C., Snippert, Hugo J., Verhoeven-Duif, Nanda, Fodde, Riccardo, and Burgering, Boudewijn M. T.

Subjects
Intestines -- Physiological aspects, Physiological research, Stem cells -- Physiological aspects, Metabolism -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Maria J. Rodrguez-Colman [1]; Matthias Schewe [2]; Maaike Meerlo [1]; Edwin Stigter [1]; Johan Gerrits [3]; Mia Pras-Raves [3]; Andrea Sacchetti [2]; Marten Hornsveld [1]; Koen C. Oost [1]; [...]

Published
2017
Full Text
View/download PDF

33. MetaboShiny: interactive analysis and metabolite annotation of mass spectrometry-based metabolomics data

Author

CMM Groep Van Mil, Cancer, Genetica Sectie Metabole Diagnostiek, Child Health, CMM Sectie Molecular Cancer Research, CMM Groep De Ridder, Wolthuis, Joanna C, Magnusdottir, Stefania, Pras-Raves, Mia, Moshiri, Maryam, Jans, Judith J M, Burgering, Boudewijn, van Mil, Saskia, de Ridder, Jeroen, CMM Groep Van Mil, Cancer, Genetica Sectie Metabole Diagnostiek, Child Health, CMM Sectie Molecular Cancer Research, CMM Groep De Ridder, Wolthuis, Joanna C, Magnusdottir, Stefania, Pras-Raves, Mia, Moshiri, Maryam, Jans, Judith J M, Burgering, Boudewijn, van Mil, Saskia, and de Ridder, Jeroen

Published
2020

34. Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots

Author

Metabole ziekten onderzoek 1, Genetica Lab. Metabole Diagnostiek, DBG Metabole en Endocriene Ziekten, Genetica Sectie Metabole Diagnostiek, Metabole ziekten patientenzorg, Child Health, Knottnerus, Suzan J.G., Pras-Raves, Mia L., van der Ham, Maria, Ferdinandusse, Sacha, Houtkooper, Riekelt H., Schielen, Peter C.J.I., Visser, Gepke, Wijburg, Frits A., de Sain-van der Velden, Monique G.M., Metabole ziekten onderzoek 1, Genetica Lab. Metabole Diagnostiek, DBG Metabole en Endocriene Ziekten, Genetica Sectie Metabole Diagnostiek, Metabole ziekten patientenzorg, Child Health, Knottnerus, Suzan J.G., Pras-Raves, Mia L., van der Ham, Maria, Ferdinandusse, Sacha, Houtkooper, Riekelt H., Schielen, Peter C.J.I., Visser, Gepke, Wijburg, Frits A., and de Sain-van der Velden, Monique G.M.

Published
2020

35. Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity

Author

Metabole ziekten onderzoek 1, Cancer, Genetica Sectie Metabole Diagnostiek, CMM Groep Burgering, Child Health, MDL patientenzorg, CMM Sectie Genomics and Bioinformatics, Cluster C, Metabole ziekten patientenzorg, Rumping, Lynne, Pras-Raves, Mia L, Gerrits, Johan, Tang, Yuen Fung, Willemsen, Marcel A, Houwen, Roderick H J, van Haaften, Gijs, van Hasselt, Peter M, Verhoeven-Duif, Nanda M, Jans, Judith J M, Metabole ziekten onderzoek 1, Cancer, Genetica Sectie Metabole Diagnostiek, CMM Groep Burgering, Child Health, MDL patientenzorg, CMM Sectie Genomics and Bioinformatics, Cluster C, Metabole ziekten patientenzorg, Rumping, Lynne, Pras-Raves, Mia L, Gerrits, Johan, Tang, Yuen Fung, Willemsen, Marcel A, Houwen, Roderick H J, van Haaften, Gijs, van Hasselt, Peter M, Verhoeven-Duif, Nanda M, and Jans, Judith J M

Published
2020

37. Author Reply to Peer Reviews of Metabolomics and lipidomics in C. elegans using a single sample preparation

Author

Houtkooper, Riekelt H., primary, van Weeghel, Michel, additional, Vaz, Frédéric M., additional, Janssens, Georges E., additional, van Kampen, Antoine H. C., additional, Kammenga, Jan E., additional, Sterken, Mark G., additional, Smith, Reuben L., additional, Luyf, Angela C., additional, Pras-Raves, Mia L., additional, Vervaart, Martin A.T., additional, Gao, Arwen W., additional, Elfrink, Hyung L., additional, Schomakers, Bauke V., additional, and Molenaars, Marte, additional

Published
2020
Full Text
View/download PDF

38. Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

Author

Staps, Pippa, primary, Rizzo, William B., additional, Vaz, Frédéric M., additional, Bugiani, Marianna, additional, Giera, Martin, additional, Heijs, Bram, additional, Kampen, Antoine H. C., additional, Pras‐Raves, Mia L., additional, Breur, Marjolein, additional, Groen, Annemieke, additional, Ferdinandusse, Sacha, additional, Graaf, Marinette, additional, Van Goethem, Gert, additional, Lammens, Martin, additional, Wevers, Ron A., additional, and Willemsen, Michèl A. A. P., additional

Published
2020
Full Text
View/download PDF

39. Metabolomics and lipidomics in C. elegans using a single sample preparation

Author

Molenaars, Marte, primary, Schomakers, Bauke V., additional, Elfrink, Hyung L., additional, Gao, Arwen W., additional, Vervaart, Martin A.T., additional, Pras-Raves, Mia L., additional, Luyf, Angela C., additional, Smith, Reuben L., additional, Sterken, Mark G., additional, Kammenga, Jan E., additional, van Kampen, Antoine H. C., additional, Janssens, Georges E., additional, Vaz, Frédéric M., additional, van Weeghel, Michel, additional, and Houtkooper, Riekelt H., additional

Published
2020
Full Text
View/download PDF

41. MetaboShiny - interactive processing, analysis and identification of untargeted metabolomics data

Author

Wolthuis, Joanna C., Magnusdottir, Stefania, Pras-Raves, Mia, Jans, Judith J.M., Burgering, Boudewijn, van Mil, Saskia, and de Ridder, Jeroen

Abstract

Untargeted metabolomics by mass spectrometry in the form of mass over charge and intensity of ions, provides insight into the metabolic activity in a sample and is therefore essential to understand regulation and expression at the protein and transcription level. Problematically, it is often challenging to analyze untargeted metabolomics data as many m/z values are detected per sample and it is difficult to identify what compound they represent. We aimed to facilitate the process of finding m/z biomarkers through statistical analysis, machine learning and searching for their putative identities. To address this challenge, we developed MetaboShiny, a novel R and RShiny based metabolomics data analysis package. MetaboShiny features bi/multivariate and temporal statistics, an extensive machine learning module, interactive plotting and result exploration, and compound identification through a variety of chemical databases. As a result, MetaboShiny enables rapid and rigorous analysis of untargeted metabolomics data as well as target identification at unprecedented scale. To demonstrate its efficacy and ease-of-use, we apply MetaboShiny to a publicly accessible metabolomics dataset generated from the urine of smokers and non-smokers. Replication of the main results of the original publication, which includes importing, normalization and several statistical analyses, is achieved within minutes. Moreover, MetaboShiny enables deeper exploration of the data thereby revealing novel putative biomarkers and hypotheses. For instance, by using MetaboShiny’s subsetting feature, iodine is found to be significantly increased in non-smoking lung cancer patients. Furthermore, by allowing for custom adducts, MetaboShiny reveals a putative identification for an m/z value which could not be identified by the original authors. This validates MetaboShiny as a flexible and customizable data analysis package that greatly enhances metabolomics biomarker discovery.

Published
2019
Full Text
View/download PDF

42. Impact of NBS for VLCAD deficiency on genetic, enzymatic and clinical outcomes

Author

Bleeker, Jeannette C, Kok, Irene L, Ferdinandusse, Sacha, van der Pol, W Ludo, Cuppen, Inge, Bosch, Annet M, Langeveld, Mirjam, Derks, Terry G J, Williams, Monique, de Vries, Maaike, Mulder, Margot F, Rubio Gozalbo, Estela, van der Velden, Monique G M de Sain, Rennings, Alexander J, Schielen, Peter J C I, Dekkers, Eugenie, Houtkooper, Riekelt H, Waterham, Hans R, Pras-Raves, Mia L, Wanders, Ronald J A, van Hasselt, Peter M, Schoenmakers, Marja, Wijburg, Frits A, Visser, Gepke, and Center for Liver, Digestive and Metabolic Diseases (CLDM)

Subjects
hypoglycemia, newborn screening, very-long-chain acyl-CoA dehydrogenase deficiency, embryonic structures, food and beverages, cardiomyopathy, fatty acid oxidation, myopathy
Abstract

BACKGROUND: Most infants with very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) identified by newborn screening (NBS) are asymptomatic at the time of diagnosis and remain asymptomatic. If this outcome is due to prompt diagnosis and initiation of therapy, or because of identification of individuals with biochemical abnormalities who will never develop symptoms, is unclear. METHODS: A 10 year longitudinal national cohort study of genetically confirmed VLCADD patients born before and after introduction of NBS. Main outcome measures were clinical outcome parameters, ACADVL gene analysis, VLCAD activity and overall capacity of long-chain fatty acid oxidation (LC-FAO flux) in lymphocytes and cultured skin fibroblasts. FINDINGS: Median VLCAD activity in lymphocytes of 54 patients, 21 diagnosed pre-NBS and 33 by NBS was respectively 5.4% (95% CI 4.0-8.3%) and 12.6% (95% CI 10.7-17.7%; p10% 7 out of 12 diagnosed pre-NBS versus none by NBS experienced hypoglycemic events. INTERPRETATIONS: NBS has a clear beneficial effect on the prevention of hypoglycemic events in patients with some residual enzyme activity, but does not prevent hypoglycemia nor cardiac complications in patients with very low residual enzyme activity. The effect of NBS on prevalence and prevention of myopathy-related complications remains unclear. TAKE-HOME MESSAGE: NBS has a clear beneficial effect on the prevention of hypoglycemic events in patients with some residual enzyme activity, but does not prevent hypoglycemia nor cardiac complications in patients with very low residual enzyme activity. This article is protected by copyright. All rights reserved.

Published
2019

43. Aqueous Humor Analysis Identifies Higher Branched Chain Amino Acid Metabolism as a Marker for Human Leukocyte Antigen-B27 Acute Anterior Uveitis and Disease Activity

Author

Verhagen, Fleurieke H., Stigter, Edwin C.A., Pras-Raves, Mia L., Burgering, Boudewijn M.T., Imhof, Saskia M., Radstake, Timothy R.D.J., de Boer, Joke H., Kuiper, Jonas J.W., Verhagen, Fleurieke H., Stigter, Edwin C.A., Pras-Raves, Mia L., Burgering, Boudewijn M.T., Imhof, Saskia M., Radstake, Timothy R.D.J., de Boer, Joke H., and Kuiper, Jonas J.W.

Published
2019

44. Direct infusion based metabolomics identifies metabolic disease in patients’ dried blood spots and plasma

Author

Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C.M.T., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., Jans, Judith J.M., Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C.M.T., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.

Published
2019

45. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., Visser, Gepke, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., and Visser, Gepke

Published
2019

46. Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Metabole ziekten onderzoek 1, UMC Utrecht, Afdeling Dietetiek, ZL Neuromusculaire Ziekten Medisch, Brain, ZL Kinder Ner en Nec Medisch, Genetica Sectie Metabole Diagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Kinderbewegingszorg patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., Visser, Gepke, Metabole ziekten onderzoek 1, UMC Utrecht, Afdeling Dietetiek, ZL Neuromusculaire Ziekten Medisch, Brain, ZL Kinder Ner en Nec Medisch, Genetica Sectie Metabole Diagnostiek, Child Health, Cluster C, Metabole ziekten patientenzorg, Kinderbewegingszorg patientenzorg, Bleeker, Jeannette C., Kok, Irene L., Ferdinandusse, Sacha, van der Pol, W. Ludo, Cuppen, Inge, Bosch, Annet M., Langeveld, Mirjam, Derks, Terry G.J., Williams, Monique, de Vries, Maaike, Mulder, Margot F., Gozalbo, Estela R., de Sain-van der Velden, Monique G.M., Rennings, Alexander J., Schielen, Peter J.C.I., Dekkers, Eugenie, Houtkooper, Riekelt H., Waterham, Hans R., Pras-Raves, Mia L., Wanders, Ronald J.A., van Hasselt, Peter M., Schoenmakers, Marja, Wijburg, Frits A., and Visser, Gepke

Published
2019

47. Aqueous Humor Analysis Identifies Higher Branched Chain Amino Acid Metabolism as a Marker for Human Leukocyte Antigen-B27 Acute Anterior Uveitis and Disease Activity

Author

Polisecretariaat Oogheelkunde, Infection & Immunity, CMM Groep Burgering, Cancer, Genetica Sectie Metabole Diagnostiek, CMM Sectie Molecular Cancer Research, Translationele immunologie, Other research (not in main researchprogram), Verhagen, Fleurieke H., Stigter, Edwin C.A., Pras-Raves, Mia L., Burgering, Boudewijn M.T., Imhof, Saskia M., Radstake, Timothy R.D.J., de Boer, Joke H., Kuiper, Jonas J.W., Polisecretariaat Oogheelkunde, Infection & Immunity, CMM Groep Burgering, Cancer, Genetica Sectie Metabole Diagnostiek, CMM Sectie Molecular Cancer Research, Translationele immunologie, Other research (not in main researchprogram), Verhagen, Fleurieke H., Stigter, Edwin C.A., Pras-Raves, Mia L., Burgering, Boudewijn M.T., Imhof, Saskia M., Radstake, Timothy R.D.J., de Boer, Joke H., and Kuiper, Jonas J.W.

Published
2019

48. Direct infusion based metabolomics identifies metabolic disease in patients’ dried blood spots and plasma

Author

Genetica Lab. Metabole Diagnostiek, Genetica Sectie Metabole Diagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, Metabole ziekten patientenzorg, Cluster C, Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C.M.T., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., Jans, Judith J.M., Genetica Lab. Metabole Diagnostiek, Genetica Sectie Metabole Diagnostiek, Child Health, DBG Metabole en Endocriene Ziekten, Metabole ziekten patientenzorg, Cluster C, Haijes, Hanneke A., Willemsen, Marcel, van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L., Prinsen, Hubertus C.M.T., van Hasselt, Peter M., de Sain-Van der Velden, Monique G.M., Verhoeven-Duif, Nanda M., and Jans, Judith J.M.

Published
2019

50. Impact of newborn screening for very‐long‐chain acyl‐CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes

Author

Bleeker, Jeannette C., primary, Kok, Irene L., additional, Ferdinandusse, Sacha, additional, van der Pol, W. Ludo, additional, Cuppen, Inge, additional, Bosch, Annet M., additional, Langeveld, Mirjam, additional, Derks, Terry G. J., additional, Williams, Monique, additional, de Vries, Maaike, additional, Mulder, Margot F., additional, Gozalbo, Estela R., additional, de Sain‐van der Velden, Monique G. M., additional, Rennings, Alexander J., additional, Schielen, Peter J. C. I., additional, Dekkers, Eugenie, additional, Houtkooper, Riekelt H., additional, Waterham, Hans R., additional, Pras‐Raves, Mia L., additional, Wanders, Ronald J. A., additional, van Hasselt, Peter M., additional, Schoenmakers, Marja, additional, Wijburg, Frits A., additional, and Visser, Gepke, additional

Published
2019
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results