Alleviating transcript insufficiency caused by Friedreich’s ataxia triplet repeats

Expanded GAA·TTC trinucleotide repeats in intron 1 of the frataxin gene cause Friedreich’s ataxia (FRDA) by reducing frataxin mRNA levels. Insufficient frataxin, a nuclear encoded mitochondrial protein, leads to the progressive neurodegeneration and cardiomyopathy characteristic of FRDA. Previously...

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Detalhes bibliográficos

Publicado no:	Nucleic Acids Res
Principais autores:	Grabczyk, Ed, Usdin, Karen
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Oxford University Press 2000
Assuntos:	Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC115239/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11121484/ https://ncbi.nlm.nih.govhttps://doi.org/10.1093/nar/28.24.4930
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