Artigos com autorizações de acesso público - Frederic VazSaiba mais
6 artigos não disponíveis publicamente
SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family
B Roeben, R Schüle, S Ruf, B Bender, B Alhaddad, T Benkert, T Meitinger, ...
Journal of medical genetics 55 (1), 39-47, 2018
Autorizações: US National Institutes of Health, European Commission, Federal Ministry of …
Fatty acid metabolism and its longitudinal relationship with the hypothalamic–pituitary–adrenal axis in major depression: associations with prospective antidepressant response
RJT Mocking, HF Verburg, AM Westerink, J Assies, FM Vaz, MWJ Koeter, ...
Psychoneuroendocrinology 59, 1-13, 2015
Autorizações: Netherlands Organisation for Health Research and Development
Biological profiling of prospective antidepressant response in major depressive disorder: associations with (neuro) inflammation, fatty acid metabolism, and amygdala-reactivity
RJT Mocking, TS Nap, AM Westerink, J Assies, FM Vaz, MWJ Koeter, ...
Psychoneuroendocrinology 79, 84-92, 2017
Autorizações: Netherlands Organisation for Scientific Research, Netherlands Organisation …
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology
F Tort, O Ugarteburu, L Texidó, S Gea‐Sorlí, J García‐Villoria, ...
Human mutation 40 (10), 1700-1712, 2019
Autorizações: Government of Spain
Oral therapy for riboflavin transporter deficiency-What is the regimen of choice?
S Gorcenco, FM Vaz, A Tracewska-Siemiatkowska, L Tranebjærg, ...
Parkinsonism & related disorders 61, 245-247, 2019
Autorizações: US National Institutes of Health
Delayed appearance of 3‐methylglutaconic aciduria in neonates with early onset metabolic cardiomyopathies: A potential pitfall for the diagnosis
A Baban, R Adorisio, B Corica, C Rizzo, F Calì, M Semeraro, R Taurisano, ...
American Journal of Medical Genetics Part A 182 (1), 64-70, 2020
Autorizações: Government of Italy
116 artigos disponíveis publicamente
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
Autorizações: US National Institutes of Health
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
Autorizações: US National Institutes of Health, Cancer Research UK
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
Autorizações: US National Institutes of Health
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
Autorizações: Cancer Research UK
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
Autorizações: US National Institutes of Health
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
Autorizações: US National Institutes of Health
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
Autorizações: German Research Foundation
A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism
PBS Celestino-Soper, S Violante, EL Crawford, R Luo, AC Lionel, ...
Proceedings of the National Academy of Sciences 109 (21), 7974-7981, 2012
Autorizações: US National Institutes of Health, National Institute of Health and Medical …
CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
SB Wortmann, S Ziętkiewicz, M Kousi, R Szklarczyk, TB Haack, ...
The American Journal of Human Genetics 96 (2), 245-257, 2015
Autorizações: US National Institutes of Health, Canadian Institutes of Health Research …
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study
M Arends, M Biegstraaten, C Wanner, S Sirrs, A Mehta, PM Elliott, D Oder, ...
Journal of Medical Genetics 55 (5), 351-358, 2018
Autorizações: Netherlands Organisation for Health Research and Development, Federal …
Identification and characterization of human cardiolipin synthase
RH Houtkooper, H Akbari, H van Lenthe, W Kulik, RJA Wanders, ...
FEBS letters 580 (13), 3059-3064, 2006
Autorizações: German Research Foundation
Peroxisomes can oxidize medium-and long-chain fatty acids through a pathway involving ABCD3 and HSD17B4
S Violante, N Achetib, CWT van Roermund, J Hagen, T Dodatko, FM Vaz, ...
The FASEB Journal 33 (3), 4355, 2019
Autorizações: US National Institutes of Health
Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: analysis of prognostic factors
M Arends, M Biegstraaten, DA Hughes, A Mehta, PM Elliott, D Oder, ...
PloS one 12 (8), e0182379, 2017
Autorizações: Netherlands Organisation for Health Research and Development, Federal …
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
FM Vaz, JH McDermott, M Alders, SB Wortmann, S Kölker, ...
Brain 142 (11), 3382-3397, 2019
Autorizações: National Institute for Health Research, UK, Wellcome Trust
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