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Neurobehavioral deficits of mice expressing a low level of G127V mutant frataxin

Friedreich’s ataxia (FRDA) is a neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin (FXN). Most FRDA patients are homozygous for large expansions of GAA repeats in intron 1 of FXN, while some are compound heterozygotes with an expanded GAA tract in one allele...

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Detalles Bibliográficos
Autores principales: Fil, Daniel, Conley, Robbie L., Zuberi, Aamir R., Lutz, Cathleen M., Gemelli, Terry, Napierala, Marek, Napierala, Jill S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9901512/
https://www.ncbi.nlm.nih.gov/pubmed/36638893
http://dx.doi.org/10.1016/j.nbd.2023.105996