Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder

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 a...

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Detalles Bibliográficos
Autores principales: Froese, D.S., Healy, S., McDonald, M., Kochan, G., Oppermann, U., Niesen, F.H., Gravel, R.A.
Formato: Texto
Lenguaje:English
Publicado: Academic Press 2010
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923755/
https://www.ncbi.nlm.nih.gov/pubmed/20219402
http://dx.doi.org/10.1016/j.ymgme.2010.02.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2923755/
https://www.ncbi.nlm.nih.gov/pubmed/20219402
http://dx.doi.org/10.1016/j.ymgme.2010.02.005

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