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Selected missense mutations impair frataxin processing in Friedreich ataxia

OBJECTIVE: Frataxin (FXN) is a highly conserved mitochondrial protein. Reduced FXN levels cause Friedreich ataxia, a recessive neurodegenerative disease. Typical patients carry GAA repeat expansions on both alleles, while a subgroup of patients carry a missense mutation on one allele and a GAA repea...

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Detalles Bibliográficos
Autores principales:	Clark, Elisia, Butler, Jill S., Isaacs, Charles J., Napierala, Marek, Lynch, David R.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5553228/ https://www.ncbi.nlm.nih.gov/pubmed/28812047 http://dx.doi.org/10.1002/acn3.433

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