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Article

c9orf72 Disease-Related Foci Are Each Composed of One Mutant Expanded Repeat RNA.

Cell chemical biology - 16 Feb 2017

Liu Jing, Hu Jiaxin, Ludlow Andrew T, Pham Jacqueline T, Shay Jerry W, Rothstein Jeffrey D, Corey David R

Abstract excerpt

The chromosome 9 open reading frame 72 (c9orf72) gene contains a hexanucleotide (GGGGCC) repeat expansion responsible for many cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The mutant intronic RNA forms "foci" within nuclei, but the connection between transcript expression, foci, and biochemical disease mechanisms is unclear. Knowing the absolute numbers of cellular RNAs, in any...

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Identifiers

PMID: 28132891
DOI: 10.1016/j.chembiol.2016.12.018
PMCID: PMC5316317

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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