Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich’s Ataxia

BACKGROUND: Friedreich ataxia is a progressive neurodegenerative disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein. Heterozygous carriers of the expansion express approximately 50% of normal...

Descripción completa

Detalles Bibliográficos
Autores principales: Plasterer, Heather L., Deutsch, Eric C., Belmonte, Matthew, Egan, Elizabeth, Lynch, David R., Rusche, James R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656936/
https://www.ncbi.nlm.nih.gov/pubmed/23691127
http://dx.doi.org/10.1371/journal.pone.0063958

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656936/
https://www.ncbi.nlm.nih.gov/pubmed/23691127
http://dx.doi.org/10.1371/journal.pone.0063958

Ejemplares similares