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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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| Pubblicato in: | Ann Clin Transl Neurol |
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| Autori principali: | , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
John Wiley and Sons Inc.
2017
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| Soggetti: | |
| Accesso online: | 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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