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Frederic Vaz
Frederic Vaz
Clinical Biochemist, Amsterdam UMC
E-mail confirmado em amsterdamumc.nl - Página inicial
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Carnitine biosynthesis in mammals
FM Vaz, RJA Wanders
Biochemical Journal 361 (3), 417-429, 2002
9562002
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies
G Wang, ML McCain, L Yang, A He, FS Pasqualini, A Agarwal, H Yuan, ...
Nature medicine 20 (6), 616-623, 2014
9202014
Acylcarnitines: reflecting or inflicting insulin resistance?
MG Schooneman, FM Vaz, SM Houten, MR Soeters
Diabetes 62 (1), 1-8, 2013
6702013
Cardiolipin, the heart of mitochondrial metabolism
RH Houtkooper, FM Vaz
Cellular and Molecular Life Sciences 65, 2493-2506, 2008
5182008
X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
PG Barth, F Valianpour, VM Bowen, J Lam, M Duran, FM Vaz, ...
American Journal of Medical Genetics Part A 126 (4), 349-354, 2004
3332004
Cardiolipin provides an essential activating platform for caspase-8 on mitochondria
F Gonzalvez, ZT Schug, RH Houtkooper, ED MacKenzie, DG Brooks, ...
The Journal of cell biology 183 (4), 681-696, 2008
3232008
Cardiac and skeletal muscle defects in a mouse model of human Barth syndrome
D Acehan, F Vaz, RH Houtkooper, J James, V Moore, C Tokunaga, ...
Journal of biological chemistry 286 (2), 899-908, 2011
2962011
Mutations in LPIN1 cause recurrent acute myoglobinuria in childhood
A Zeharia, A Shaag, RH Houtkooper, T Hindi, P de Lonlay, G Erez, ...
The American Journal of Human Genetics 83 (4), 489-494, 2008
2642008
Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome
Z Gu, F Valianpour, S Chen, FM Vaz, GA Hakkaart, RJA Wanders, ...
Molecular microbiology 51 (1), 149-158, 2004
2552004
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype
FM Vaz, CC Paulusma, H Huidekoper, M de Ru, C Lim, J Koster, ...
Hepatology 61 (1), 260-267, 2015
2332015
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
SB Wortmann, FM Vaz, T Gardeitchik, LELM Vissers, GH Renkema, ...
Nature genetics 44 (7), 797-802, 2012
2332012
BID is cleaved by caspase-8 within a native complex on the mitochondrial membrane
ZT Schug, F Gonzalvez, RH Houtkooper, FM Vaz, E Gottlieb
Cell Death & Differentiation 18 (3), 538-548, 2011
2152011
Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for …
RH Houtkooper, RJ Rodenburg, C Thiels, H van Lenthe, F Stet, ...
Analytical biochemistry 387 (2), 230-237, 2009
2152009
MTCH2/MIMP is a major facilitator of tBID recruitment to mitochondria
Y Zaltsman, L Shachnai, N Yivgi-Ohana, M Schwarz, M Maryanovich, ...
Nature cell biology 12 (6), 553-562, 2010
2142010
Barth syndrome: cellular compensation of mitochondrial dysfunction and apoptosis inhibition due to changes in cardiolipin remodeling linked to tafazzin (TAZ) gene mutation
F Gonzalvez, M D'Aurelio, M Boutant, A Moustapha, JP Puech, T Landes, ...
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1832 (8 …, 2013
2082013
Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome
J Dudek, IF Cheng, M Balleininger, FM Vaz, K Streckfuss-Bömeke, ...
Stem cell research 11 (2), 806-819, 2013
1902013
Enzymology of the carnitine biosynthesis pathway
K Strijbis, FM Vaz, B Distel
IUBMB life 62 (5), 357-362, 2010
1872010
The enigmatic role of tafazzin in cardiolipin metabolism
RH Houtkooper, M Turkenburg, BT Poll-The, D Karall, C Pérez-Cerdá, ...
Biochimica et Biophysica Acta (BBA)-Biomembranes 1788 (10), 2003-2014, 2009
1812009
Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism
FM Vaz, RH Houtkooper, F Valianpour, PG Barth, RJA Wanders
Journal of Biological Chemistry 278 (44), 43089-43094, 2003
1782003
Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
F Valianpour, V Mitsakos, D Schlemmer, JA Towbin, JM Taylor, PG Ekert, ...
Journal of lipid research 46 (6), 1182-1195, 2005
1772005
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