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Disease Variants of the Human Mitochondrial DNA Helicase Encoded by C10orf2 Differentially Alter Protein Stability, Nucleotide Hydrolysis, and Helicase Activity

Missense mutations in the human C10orf2 gene, encoding the mitochondrial DNA (mtDNA) helicase, co-segregate with mitochondrial diseases such as adult-onset progressive external ophthalmoplegia, hepatocerebral syndrome with mtDNA depletion syndrome, and infantile-onset spinocerebellar ataxia. To unde...

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Detalhes bibliográficos
Main Authors: Longley, Matthew J., Humble, Margaret M., Sharief, Farida S., Copeland, William C.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2943296/
https://ncbi.nlm.nih.gov/pubmed/20659899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.151795
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