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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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Bibliografiske detaljer
Udgivet i:Ann Clin Transl Neurol
Main Authors: Clark, Elisia, Butler, Jill S., Isaacs, Charles J., Napierala, Marek, Lynch, David R.
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5553228/
https://ncbi.nlm.nih.gov/pubmed/28812047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.433
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