Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder.
|Abstract||Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of cellular vitamin B12 metabolism. We previously showed that the protein carrying the mutation responsible for late-onset cblC (MMACHC-R161Q), treatable with high dose OHCbl, is able to bind OHCbl with wild-type affinity, leaving undetermined the disease mechanism involved [Froese et al., Mechanism of responsiveness, Mol. Genet. Metab. (2009).]. To assess wheth ... [truncated at 450 characters in length]|
|Author||Froese, D S; Healy, S; McDonald, M; et al|
|Subject||Age of Onset Amino Acid Metabolism, Inborn Errors Carrier Proteins Cobamides Fluorometry Homocystinuria Hot Temperature Humans Methylmalonic Acid Protein Denaturation Protein Stability Vitamin B 12 drug therapy genetics chemistry genetics chemistry drug therapy genetics urine analogs and derivatives chemistry genetics therapeutic use|
Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.
|Abstract||Vitamin B(12) (cobalamin, Cbl) is essential to the function of two human enzymes, methionine synthase (MS) and methylmalonyl-CoA mutase (MUT). The conversion of dietary Cbl to its cofactor forms, methyl-Cbl (MeCbl) for MS and adenosyl-Cbl (AdoCbl) for MUT, located in the cytosol and mitochondria, respectively, requires a complex pathway of intracellular processing and trafficking. One of the processing proteins, MMAA (methylmalonic aciduria type ... [truncated at 450 characters in length]|
|Author||Froese, D Sean; Kochan, Grazyna; Muniz, João R C; et al|
|Subject||Child Child, Preschool Cobamides Crystallography, X-Ray Cytosol Guanosine Diphosphate Guanosine Triphosphate Humans Membrane Transport Proteins Metabolism, Inborn Errors Methylmalonyl-CoA Mutase Mitochondria Mitochondrial Proteins Multiprotein Complexes Mutation, Missense Protein Structure, Quaternary chemistry genetics metabolism chemistry metabolism chemistry genetics metabolism chemistry genetics metabolism chemistry genetics metabolism chemistry genetics metabolism chemistry genetics metabolism chemistry genetics metabolism chemistry genetics metabolism|