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Article

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

PLoS genetics - 1 Nov 2016

Ugolino Janet, Ji Yon Ju, Conchina Karen, Chu Justin, Nirujogi Raja Sekhar, Pandey Akhilesh, Brady Nathan R, Hamacher-Brady Anne, Wang Jiou

Abstract excerpt

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 of the C9orf72 gene in mice causes age-dependent lethality phenotypes. We demonstrate that C9orf72 regulates...

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Source

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Identifiers

PMID: 27875531
DOI: 10.1371/journal.pgen.1006443
PMCID: PMC5119725

Genes

SMCR8
TFEB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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