Article
Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase.
Proceedings of the National Academy of Sciences of the United States of America - 28 May 1996
Drennan C L, Matthews R G, Rosenblatt D S, Ledley F D, Fenton W A, Ludwig M L
Abstract excerpt
Inherited defects in the gene for methylmalonyl-CoA mutase (EC 5.4.99.2) result in the mut forms of methylmalonic aciduria. mut- mutations lead to the absence of detectable mutase activity and are not corrected by excess cobalamin, whereas mut- mutations exhibit residual activity when exposed to excess cobalamin. Many of the mutations that cause methylmalonic aciduria in humans affect residues in the C-terminal...
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