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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| Gepubliceerd in: | Nucleic Acids Res |
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| Hoofdauteurs: | , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Oxford University Press
2000
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| Onderwerpen: | |
| Online toegang: | 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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