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

Internet

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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