Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

Mutations in the mitochondrial helicase Twinkle underlie autosomal dominant progressive external ophthalmoplegia (PEO), as well as recessively inherited infantile-onset spinocerebellar ataxia and rare forms of mitochondrial DNA (mtDNA) depletion syndrome. Familial PEO is typically associated with th...

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Detalles Bibliográficos
Autores principales: Goffart, Steffi, Cooper, Helen M., Tyynismaa, Henna, Wanrooij, Sjoerd, Suomalainen, Anu, Spelbrink, Johannes N.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2009
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2638771/
https://www.ncbi.nlm.nih.gov/pubmed/18971204
http://dx.doi.org/10.1093/hmg/ddn359

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