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Nine novel isovaleryl-CoA dehydrogenase mutations have been found in a Spanish cohort with isovaleric acidemia.
kinetics and ligand binding of isovaleryl-CoA dehydrogenase
A heterogeneous mutation spectrum in the IVD gene was identified in isovaleric acidemia patients in the United Arab Emirates.
A child with isovaleric acidemia was subsequently found to harbour a known missense mutation (c.A1199G [p.Y371C]) and a novel 4-bp duplication (c.1148_1151dupGCTA [p.Y355X]) in the IVD gene. The former may be a founder mutation in the Chinese population.
Replacement of the catalytic glutamate (显示 GRIN1 蛋白) in either short-chain acyl-CoA dehydrogenase (SCAD (显示 Acads 蛋白)) or isovaleryl-CoA dehydrogenase (IVD)with glycine resulted in a several-fold reduction in affinity for substrate.
Mutations of isovaleryl-CoA dehydrogenase gene is associated with isovaleric acidemia
Data elucidates the pathway of plant Lys (显示 LYZ 蛋白) catabolism and demonstrate that both isovaleryl-CoA dehydrogenase and 2-hydroxyglutarate dehydrogenase (显示 L2HGDH 蛋白) act as electron donors to the ubiquinol pool via an ETF (显示 TEAD2 蛋白)/ETFQO (显示 ETFDH 蛋白)-mediated route. [IVDH]
Accumulation of both homomethionine and 3-isovaleroyloxypropyl-glucosinolate cosegregates with the high branched chain amino acid phenotype in IVD mutants.
Isovaleryl-CoA dehydrogenase (IVD) is a mitochondrial matrix enzyme that catalyzes the third step in leucine catabolism. The genetic deficiency of IVD results in an accumulation of isovaleric acid, which is toxic to the central nervous system and leads to isovaleric acidemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
, isovaleryl-CoA dehydrogenase, mitochondrial
, isovaleryl CoA dehydrogenase
, isovaleryl Coenzyme A dehydrogenase
, isovaleryl coenzyme A dehydrogenase