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Loss of C9orf72 Enhances Autophagic Activity via Deregulated mTOR and TFEB Signaling

The most common cause of the neurodegenerative diseases amyotrophic lateral sclerosis and frontotemporal dementia is a hexanucleotide repeat expansion in C9orf72. Here we report a study of the C9orf72 protein by examining the consequences of loss of C9orf72 functions. Deletion of one or both alleles...

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Detalles Bibliográficos
Autores principales: Ugolino, Janet, Ji, Yon Ju, Conchina, Karen, Chu, Justin, Nirujogi, Raja Sekhar, Pandey, Akhilesh, Brady, Nathan R., Hamacher-Brady, Anne, Wang, Jiou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5119725/
https://www.ncbi.nlm.nih.gov/pubmed/27875531
http://dx.doi.org/10.1371/journal.pgen.1006443