Biochimica et biophysica acta, 1637(1), 119-126 (2003-01-16)
Mitochondrial dysfunction occurs in many neurodegenerative diseases. The alpha-ketoglutarate dehydrogenase complex (KGDHC) catalyzes a key and arguably rate-limiting step of the tricarboxylic acid cycle (TCA). A reduction in the activity of the KGDHC occurs in brains and cells of patients
Analysis of (S)- and (R)-3-methyl-2-oxopentanoate enantiomorphs in body fluids.
Journal of the neurological sciences, 181(1-2), 44-49 (2000-12-02)
Maple syrup urine disease is an inherited metabolic disorder characterized by tissue accumulation of branched-chain amino acids and their corresponding keto acids in the affected children. Although this disorder is predominantly characterized by neurological symptoms, only few studies were carried
Journal of bacteriology, 182(11), 3239-3246 (2000-05-16)
Recently the bkd gene cluster from Enterococcus faecalis was sequenced, and it was shown that the gene products constitute a pathway for the catabolism of branched-chain alpha-keto acids. We have now investigated the regulation and physiological role of this pathway.
Biochimica et biophysica acta, 1475(2), 114-118 (2000-06-01)
Maple syrup urine disease is a metabolic disorder caused by mutations of the branched chain keto acid dehydrogenase complex, leading to accumulation of alpha-keto acids and their amino acid precursors in the brain. We now report that alpha-ketoisovaleric, alpha-keto-beta-methyl-n-valeric and
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