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ProteomicsStructural Basis for Defective Membrane Targeting of Mutant Enzyme in Human VLCAD Deficiency
Very long-chain acyl-CoA dehydrogenase (VLCAD) is an inner mitochondrial membrane enzyme that catalyzes the first and rate-limiting step of long-chain fatty acid oxidation. Point mutations in human VLCAD can produce an inborn error of metabolism called VLCAD deficiency that can lead to severe pathop...
ORGANISM(S): Homo sapiens (Human) 
2022-06-29 | PXD029565 | Pride
Vlcad  fatty acid oxidation  membrane protein structure  hdx-ms  hydrogen/deuterium exchange mass spectrometry  x-ray crystallography  molecular dynamics 
ProteomicsMitochondrial morphology, bioenergetics and proteomic responses in fatty acid oxidation disorders
Mutations in nuclear genes encoding for mitochondrial proteins very long-chain acyl-CoA dehydrogenase (VLCAD) and trifunctional protein (TFP) cause rare autosomal recessive disorders. Studies in fibroblasts derived from patients with mutations in VLCAD and TFP exhibit mitochondrial defects. To gain ...
ORGANISM(S): Homo sapiens (Human) 
2021-03-04 | PXD024488 | Pride
Proteomics Very longchain acyl-coa dehydrogenase (vlcad) Long-chain fatty acids (lcfa) Trifunctional protein (tfp) Mitochondria Beta-oxidation 
UnknownStructural basis for defective membrane targeting of mutant enzyme in human VLCAD deficiency.
Not available
S-EPMC9237092 | biostudies-literature
UnknownMisclassification of VLCAD carriers due to variable confirmatory testing after a positive NBS result.
Not available
S-EPMC6754489 | biostudies-literature
UnknownTreatment of VLCAD-Deficient Patient Fibroblasts with Peroxisome Proliferator-Activated Receptor δ Agonist Improves Cellular Bioenergetics.
Not available
S-EPMC9454759 | biostudies-literature
UnknownClinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby.
Not available
S-EPMC6718132 | biostudies-literature
UnknownTissue-specific strategies of the very-long chain acyl-CoA dehydrogenase-deficient (VLCAD-/-) mouse to compensate a defective fatty acid β-oxidation.
Not available
S-EPMC3443214 | biostudies-literature
UnknownDynamic Regulation of Long-Chain Fatty Acid Oxidation by a Noncanonical Interaction between the MCL-1 BH3 Helix and VLCAD.
Not available
S-EPMC5916823 | biostudies-literature
UnknownPostmortem diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency in a neonate with sudden cardiac death.
Not available
S-EPMC10315371 | biostudies-literature
UnknownElectrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.
Not available
S-EPMC7883678 | biostudies-literature
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