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Article

There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS.

Brain research - 15 Sept 2016

Gitler Aaron D, Tsuiji Hitomi

Abstract excerpt

The discovery of C9orf72 mutations as the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has awakened a surge of interest in deciphering how mutations in this mysterious gene cause disease and what can be done to stop it. C9orf72 harbors a hexanucleotide repeat, GGGGCC, in a non-coding region of the gene and a massive expansion of this repeat causes ALS, FTD, or...

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Identifiers

PMID: 27059391
DOI: 10.1016/j.brainres.2016.04.004
PMCID: PMC5003651

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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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