Barth syndrome: Cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation
Gonzalvez, François, D'Aurelio, Marilena, Boutant, Marie, Moustapha, Aoula, Puech, Jean-Philippe, Landes, Thomas, Arnauné-Pelloquin, Laeticia, Vial, Guillaume, Taleux, Nellie, Slomianny, Christian, Wanders, Ronald J., Houtkooper, Riekelt H., Bellenguer, Pascale, Møller, Ian Max, Gottlieb, Eyal, Vaz, Frederic M., Manfredi, Giovanni, Petit, Patrice X.
Published in Biochimica et biophysica acta (01.08.2013)
Published in Biochimica et biophysica acta (01.08.2013)
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
WORTMANN, Saskia B, VAZ, Frederic M, RODENBURG, Richard J, NIJTMANS, Leo G. J, GRÜNEWALD, Anne, KLEIN, Christine, GERHOLD, Joachim M, KOZICZ, Tamas, VAN HASSELT, Peter M, HARAKALOVA, Magdalena, KLOOSTERMAN, Wigard, BARIC, Ivo, GARDEITCHIK, Thatjana, PRONICKA, Ewa, KALKAN UCAR, Sema, NAESS, Karin, SINGHAL, Kapil K, KRUMINA, Zita, GILISSEN, Christian, VAN BOKHOVEN, Hans, VELTMAN, Joris A, SMEITINK, Jan A. M, LEFEBER, Dirk J, VISSERS, Lisenka Elm, SPELBRINK, Johannes N, WEVERS, Ron A, MORAVA, Eva, DE BROUWER, Arjan P. M, HERMA RENKEMA, G, SCHUURS-HOEIJMAKERS, Janneke H. M, KULIK, Wim, LAMMENS, Martin, CHRISTIN, Christin, KLUIJTMANS, Leoaj
Published in Nature genetics (01.07.2012)
Published in Nature genetics (01.07.2012)
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Cardiac and Skeletal Muscle Defects in a Mouse Model of Human Barth Syndrome
Acehan, Devrim, Vaz, Frederic, Houtkooper, Riekelt H., James, Jeanne, Moore, Vicky, Tokunaga, Chonan, Kulik, Willem, Wansapura, Janaka, Toth, Matthew J., Strauss, Arnold, Khuchua, Zaza
Published in The Journal of biological chemistry (14.01.2011)
Published in The Journal of biological chemistry (14.01.2011)
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Glycolate oxidase inhibition by lumasiran varies between patients with primary hyperoxaluria type 1
Garrelfs, Sander F., Metry, Elisabeth L., van Harskamp, Dewi, Vaz, Frederic M., van den Akker, Chris H.P., Schierbeek, Henk, Groothoff, Jaap W., Oosterveld, Michiel J.S.
Published in Kidney international (01.05.2023)
Published in Kidney international (01.05.2023)
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Plasma oxalate and glycolate concentrations in dialysis patients with and without primary hyperoxaluria type 1
Metry, Elisabeth L, Garrelfs, Sander F, Peters-Sengers, Hessel, Vaz, Frederic M, Bijlsma, Joost A, Neradova, Aegida, Oosterveld, Michiel J S, Groothoff, Jaap W
Published in Nephrology, dialysis, transplantation (30.06.2023)
Published in Nephrology, dialysis, transplantation (30.06.2023)
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Defining functional classes of Barth syndrome mutation in humans
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, Claypool, Steven M
Published in Human molecular genetics (01.05.2016)
Published in Human molecular genetics (01.05.2016)
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Sterol-regulated transmembrane protein TMEM86a couples LXR signaling to regulation of lysoplasmalogens in macrophages
van Wouw, Suzanne A.E., van den Berg, Marlene, El Ouraoui, Maroua, Meurs, Amber, Kingma, Jenina, Ottenhoff, Roelof, Loix, Melanie, Hoeksema, Marten A., Prange, Koen, Pasterkamp, Gerard, Hendriks, Jerome J.A., Bogie, Jeroen F.J., van Klinken, Jan B., Vaz, Frederic M., Jongejan, Aldo, de Winther, Menno P.J., Zelcer, Noam
Published in Journal of lipid research (01.02.2023)
Published in Journal of lipid research (01.02.2023)
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MTCH2/MIMP is a major facilitator of tBID recruitment to mitochondria
Gross, Atan, Zaltsman, Yehudit, Shachnai, Liat, Yivgi-Ohana, Natalie, Schwarz, Michal, Maryanovich, Maria, Houtkooper, Riekelt H, Vaz, Frédéric Maxime, De Leonardis, Francesco, Fiermonte, Giuseppe, Palmieri, Ferdinando, Gillissen, Bernhard, Daniel, Peter T, Jimenez, Erin, Walsh, Susan, Koehler, Carla M, Roy, Soumya Sinha, Walter, Ludivine, Hajnóczky, György
Published in Nature cell biology (01.06.2010)
Published in Nature cell biology (01.06.2010)
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Dietary linoleic acid supplementation fails to rescue established cardiomyopathy in Barth syndrome
Zhu, Siting, Pang, Jing, Nguyen, Anh, Huynh, Helen, Lee, Sharon, Gu, Yusu, Vaz, Frederic M., Fang, Xi
Published in Journal of Molecular and Cellular Cardiology Plus (Online) (01.06.2024)
Published in Journal of Molecular and Cellular Cardiology Plus (Online) (01.06.2024)
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Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients
Wasim, Muhammad, Khan, Haq N., Ayesha, Hina, Iqbal, Mazhar, Tawab, Abdul, Irfan, Muhammad, Kanhai, Warsha, Goorden, Susanna M. I., Stroomer, Lida, Salomons, Gajja, Vaz, Frederic M., Karnebeek, Clara D. M. van, Awan, Fazli R.
Published in Journal of Pediatric Endocrinology & Metabolism (28.03.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (28.03.2022)
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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood
Michot, Caroline, Hubert, Laurence, Brivet, Michèle, De Meirleir, Linda, Valayannopoulos, Vassili, Müller-Felber, Wolfgang, Venkateswaran, Ramesh, Ogier, Hélène, Desguerre, Isabelle, Altuzarra, Cécilia, Thompson, Elizabeth, Smitka, Martin, Huebner, Angela, Husson, Marie, Horvath, Rita, Chinnery, Patrick, Vaz, Frederic M, Munnich, Arnold, Elpeleg, Orly, Delahodde, Agnès, de Keyzer, Yves, de Lonlay, Pascale
Published in Human mutation (01.07.2010)
Published in Human mutation (01.07.2010)
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Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era
Wanders, Ronald J. A., Vaz, Frederic M., Ferdinandusse, Sacha, van Kuilenburg, André B. P., Kemp, Stephan, van Karnebeek, Clara D., Waterham, Hans R., Houtkooper, Riekelt H.
Published in Journal of inherited metabolic disease (01.03.2019)
Published in Journal of inherited metabolic disease (01.03.2019)
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Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan
Wasim, Muhammad, Khan, Haq Nawaz, Ayesha, Hina, Goorden, Susanna M I, Vaz, Frederic M, van Karnebeek, Clara D M, Awan, Fazli Rabbi
Published in Frontiers in neurology (17.07.2019)
Published in Frontiers in neurology (17.07.2019)
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Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants
Lipiński, Patryk, Stawiński, Piotr, Rydzanicz, Małgorzata, Wypchło, Maria, Płoski, Rafał, Stradomska, Teresa Joanna, Jurkiewicz, Elżbieta, Ferdinandusse, Sacha, Wanders, Ronald J. A., Vaz, Frederic M., Tylki-Szymańska, Anna
Published in Journal of applied genetics (01.02.2020)
Published in Journal of applied genetics (01.02.2020)
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Lipidomics unveils lipid dyshomeostasis and low circulating plasmalogens as biomarkers in a monogenic mitochondrial disorder
Ruiz, Matthieu, Cuillerier, Alexanne, Daneault, Caroline, Deschênes, Sonia, Frayne, Isabelle Robillard, Bouchard, Bertrand, Forest, Anik, Legault, Julie Thompson, Vaz, Frederic M, Rioux, John D, Burelle, Yan, Des Rosiers, Christine
Published in JCI insight (25.07.2019)
Published in JCI insight (25.07.2019)
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Acylcarnitines: reflecting or inflicting insulin resistance?
Schooneman, Marieke G, Vaz, Frédéric M, Houten, Sander M, Soeters, Maarten R
Published in Diabetes (New York, N.Y.) (01.01.2013)
Published in Diabetes (New York, N.Y.) (01.01.2013)
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Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy
Richmond, Phillip A, van der Kloet, Frans, Vaz, Frederic M, Lin, David, Uzozie, Anuli, Graham, Emma, Kobor, Michael, Mostafavi, Sara, Moerland, Perry D, Lange, Philipp F, van Kampen, Antoine H C, Wasserman, Wyeth W, Engelen, Marc, Kemp, Stephan, van Karnebeek, Clara D M
Published in Frontiers in cell and developmental biology (25.06.2020)
Published in Frontiers in cell and developmental biology (25.06.2020)
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