Cargando…
MutLα Heterodimers Modify the Molecular Phenotype of Friedreich Ataxia
BACKGROUND: Friedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression. Studies of cell and mouse models have revealed a role for the mismatch rep...
| Autores principales: | , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2014
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4074104/ https://www.ncbi.nlm.nih.gov/pubmed/24971578 http://dx.doi.org/10.1371/journal.pone.0100523 |