Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment

Machado Joseph Disease (MJD) is the most frequent autosomal dominantly inherited cerebellar ataxia caused by the over-repetition of a CAG trinucleotide in the ATXN3 gene. This expansion translates into a polyglutamine tract within the ataxin-3 protein that confers a toxic gain-of-function to the mut...

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Detalles Bibliográficos
Autores principales: Onofre, Isabel, Mendonça, Nuno, Lopes, Sara, Nobre, Rui, de Melo, Joana Barbosa, Carreira, Isabel Marques, Januário, Cristina, Gonçalves, António Freire, de Almeida, Luis Pereira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4916410/
https://www.ncbi.nlm.nih.gov/pubmed/27328712
http://dx.doi.org/10.1038/srep28220

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