about
Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene familyIdentification and characterization of new long chain acyl-CoA dehydrogenasesDifferent spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemiaStructural basis for substrate fatty acyl chain specificity: crystal structure of human very-long-chain acyl-CoA dehydrogenaseA new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiencyMedium-chain acyl-CoA dehydrogenase deficiency in gene-targeted miceMitochondrial structure, function and dynamics are temporally controlled by c-MycStructures of isobutyryl-CoA dehydrogenase and enzyme-product complex: comparison with isovaleryl- and short-chain acyl-CoA dehydrogenasesIdentification of isobutyryl-CoA dehydrogenase and its deficiency in humansShort-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish originThermal unfolding of medium-chain acyl-CoA dehydrogenase and iso(3)valeryl-CoA dehydrogenase: study of the effect of genetic defects on enzyme stabilityThe ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular levelCharacterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screeningShort-chain acyl-coenzyme A dehydrogenase deficiencyFollistatin-like protein 1 enhances NLRP3 inflammasome-mediated IL-1β secretion from monocytes and macrophagesLong-chain acyl-CoA dehydrogenase deficiency as a cause of pulmonary surfactant dysfunctionTargeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidationBiochemical and electrochemical characterization of two variant human short-chain acyl-CoA dehydrogenases.Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples.Alterations in c-Myc phenotypes resulting from dynamin-related protein 1 (Drp1)-mediated mitochondrial fission.Mechanism-based inactivation of human glutaryl-CoA dehydrogenase by 2-pentynoyl-CoA: rationale for enhanced reactivity.Human acyl-CoA dehydrogenase-9 plays a novel role in the mitochondrial beta-oxidation of unsaturated fatty acids.Carnitine.Women have higher protein content of beta-oxidation enzymes in skeletal muscle than men.Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.Therapies in inborn errors of oxidative metabolism.Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screeningBarriers to the successful treatment of liver disease by hepatocyte transplantation.Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.c-Myc programs fatty acid metabolism and dictates acetyl-CoA abundance and fate.Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delayComplex changes in the liver mitochondrial proteome of short chain acyl-CoA dehydrogenase deficient mice.Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.Defects of mitochondrial beta-oxidation: a growing group of disorders.Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series.Kinetic and spectral properties of isovaleryl-CoA dehydrogenase and interaction with ligandsEffects of diet and physical activity interventions on weight loss and cardiometabolic risk factors in severely obese adults: a randomized trial.Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient miceRole of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway.
P50
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P50
description
hulumtues
@sq
researcher
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wetenschapper
@nl
հետազոտող
@hy
name
Jerry Vockley
@ast
Jerry Vockley
@en
Jerry Vockley
@es
Jerry Vockley
@nl
Jerry Vockley
@sl
type
label
Jerry Vockley
@ast
Jerry Vockley
@en
Jerry Vockley
@es
Jerry Vockley
@nl
Jerry Vockley
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altLabel
Gerard Vockley
@en
prefLabel
Jerry Vockley
@ast
Jerry Vockley
@en
Jerry Vockley
@es
Jerry Vockley
@nl
Jerry Vockley
@sl
P108
P1053
B-5210-2016
P106
P108
P1153
7004917963
P21
P31
P3829
P496
0000-0002-8180-6457