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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Bibliographic Details
Main Authors: Janet Ugolino, Yon Ju Ji, Karen Conchina, Justin Chu, Raja Sekhar Nirujogi, Akhilesh Pandey, Nathan R Brady, Anne Hamacher-Brady, Jiou Wang
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-11-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5119725?pdf=render