Vaz, Frédéric M.

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

Wang, G., McCain, M. L., Yang, L., He, A., Pasqualini, F. S., Agarwal, A., Yuan, H., Jiang, D., Zhang, D., Zangi, L., et al. (2014) · Nature Medicine

Pluripotent Stem Cells ResearchMitochondrial Function and Pathology

Cited by 837

Acylcarnitines

Schooneman, M. G., Vaz, F. M., Houten, S. M., & Soeters, M. R. (2013) · Diabetes

Lipid metabolism and biosynthesisMetabolism and Genetic Disorders

Cited by 616

MTCH2/MIMP is a major facilitator of tBID recruitment to mitochondria

Zaltsman, Y., Shachnai, L., Yivgi-Ohana, N., Schwarz, M., Maryanovich, M., Houtkooper, R. H., Vaz, F. M., De Leonardis, F., Fiermonte, G., Palmieri, F., et al. (2010) · Nature Cell Biology

Cell death mechanisms and regulationMitochondrial Function and Pathology

Cited by 218

International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy

Engelen, M., van Ballegoij, W. J. C., Mallack, E. J., Van Haren, K. P., Köhler, W., Salsano, E., van Trotsenburg, A. S. P., Mochel, F., Sevin, C., Regelmann, M. O., et al. (2022) · Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 156

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Celestino-Soper, P. B. S., Violante, S., Crawford, E. L., Luo, R., Lionel, A. C., Delaby, E., Cai, G., Sadikovic, B., Lee, K., Lo, C., et al. (2012) · Proceedings of the National Academy of Sciences

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 139

Lipoprotein lipase maintains microglial innate immunity in obesity.

Gao, Y., Vidal-Itriago, A., Kalsbeek, M. J., Layritz, C., García-Cáceres, C., Tom, R. Z., Eichmann, T. O., Vaz, F. M., Houtkooper, R. H., van der Wel, N., et al. (2017) · Cell Reports

Neuroinflammation and Neurodegeneration MechanismsAdipokines, Inflammation, and Metabolic Diseases

Cited by 123

PPARα-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation

van Vlies, N., Ferdinandusse, S., Turkenburg, M., Wanders, R. J. A., & Vaz, F. M. (2007) · Biochimica et Biophysica Acta (BBA) - Bioenergetics

Peroxisome Proliferator-Activated ReceptorsMetabolism and Genetic Disorders

Cited by 98

A sensitive mass spectrometry platform identifies metabolic changes of life history traits in C. elegans

Gao, A. W., Chatzispyrou, I. A., Kamble, R., Liu, Y. J., Herzog, K., Smith, R. L., van Lenthe, H., Vervaart, M. A. T., van Cruchten, A., Luyf, A. C., et al. (2017) · Scientific Reports

Genetics, Aging, and Longevity in Model OrganismsMetabolomics and Mass Spectrometry Studies

Cited by 77

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy

Huffnagel, I. C., van de Beek, M.-C., Showers, A. L., Orsini, J. J., Klouwer, F. C. C., Dijkstra, I. M. E., Schielen, P. C., van Lenthe, H., Wanders, R. J. A., Vaz, F. M., et al. (2017) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 71

Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders

Jaspers, Y. R. J., Ferdinandusse, S., Dijkstra, I. M. E., Barendsen, R. W., van Lenthe, H., Kulik, W., Engelen, M., Goorden, S. M. I., Vaz, F. M., & Kemp, S. (2020) · Frontiers in Cell and Developmental Biology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 69

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Barendsen, R. W., Dijkstra, I. M. E., Visser, W. F., Alders, M., Bliek, J., Boelen, A., Bouva, M. J., van der Crabben, S. N., Elsinghorst, E., van Gorp, A. G. M., et al. (2020) · Frontiers in Cell and Developmental Biology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 65

Functional characterisation of peroxisomal β‐oxidation disorders in fibroblasts using lipidomics

Herzog, K., Pras‐Raves, M. L., Ferdinandusse, S., Vervaart, M. A. T., Luyf, A. C. M., van Kampen, A. H. C., Wanders, R. J. A., Waterham, H. R., & Vaz, F. M. (2018) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 57

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

van de Beek, M.-C., Dijkstra, I. M. E., van Lenthe, H., Ofman, R., Goldhaber-Pasillas, D., Schauer, N., Schackmann, M., Engelen-Lee, J.-Y., Vaz, F. M., Kulik, W., et al. (2016) · PLOS ONE

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 48

Biological Profiling of Prospective Antidepressant Response in Major Depressive Disorder: Associations with (Neuro)Inflammation, Fatty Acid Metabolism, and Amygdala-Reactivity

Mocking, R. J. T., Nap, T. S., Westerink, A. M., Assies, J., Vaz, F. M., Koeter, M. W. J., Ruhé, H. G., & Schene, A. H. (2017) · Psychoneuroendocrinology

Treatment of Major DepressionTryptophan and brain disorders

Cited by 34

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

Darwisch, W., von Spangenberg, M., Lehmann, J., Singin, Ö., Deubert, G., Kühl, S., Roos, J., Horstmann, H., Körber, C., Hoppe, S., et al. (2020) · Communications Biology

Metabolism and Genetic DisordersLipid metabolism and biosynthesis

Cited by 32

The ELOVL proteins: Very and ultra long-chain fatty acids at the crossroads between metabolic and neurodegenerative disorders.

Ferrero, E., Vaz, F. M., Cheillan, D., Brusco, A., & Marelli, C. (2025) · Molecular Genetics and Metabolism

Lipid metabolism and biosynthesisMetabolism and Genetic Disorders

Cited by 24

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

van de Stadt, S. I. W., Mooyer, P. A. W., Dijkstra, I. M. E., Dekker, C. J. M., Vats, D., Vera, M., Ruzhnikov, M. R. Z., van Haren, K., Tang, N., Koop, K., et al. (2021) · Genes

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 14

Ether lipid transfer across the blood-brain and placental barriers does not improve by inactivation of the most abundant ABC transporters.

Dorninger, F., Vaz, F. M., Waterham, H. R., Klinken, J. B. V., Zeitler, G., Forss-Petter, S., Berger, J., & Wiesinger, C. (2022) · Brain Research Bulletin

Drug Transport and Resistance MechanismsBarrier Structure and Function Studies

Cited by 12