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Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl‐CoA Mutase (MUT) Deficiency

Methylmalonyl‐CoA mutase (MUT) is an essential enzyme in propionate catabolism that requires adenosylcobalamin as a cofactor. Almost 250 inherited mutations in the MUT gene are known to cause the devastating disorder methylmalonic aciduria; however, the mechanism of dysfunction of these mutations, m...

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Bibliografske podrobnosti
izdano v:Hum Mutat
Main Authors: Forny, Patrick, Froese, D. Sean, Suormala, Terttu, Yue, Wyatt W., Baumgartner, Matthias R.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2014
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4441004/
https://ncbi.nlm.nih.gov/pubmed/25125334
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22633
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