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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Detalles Bibliográficos
Autores principales: Forny, Patrick, Froese, D. Sean, Suormala, Terttu, Yue, Wyatt W., Baumgartner, Matthias R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2014
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441004/
https://www.ncbi.nlm.nih.gov/pubmed/25125334
http://dx.doi.org/10.1002/humu.22633

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441004/
https://www.ncbi.nlm.nih.gov/pubmed/25125334
http://dx.doi.org/10.1002/humu.22633

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