C9ORF72 GGGGCC Expanded Repeats Produce Splicing Dysregulation which Correlates with Disease Severity in Amyotrophic Lateral Sclerosis.

<h4>Objective</h4>An intronic GGGGCC-repeat expansion of C9ORF72 is the most common genetic variant of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. The mechanism of neurodegeneration is unknown, but a direct effect on RNA processing mediated by RNA foci transcribed fr...

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Bibliographic Details
Main Authors: Johnathan Cooper-Knock, Joanna J Bury, Paul R Heath, Matthew Wyles, Adrian Higginbottom, Catherine Gelsthorpe, J Robin Highley, Guillaume Hautbergue, Magnus Rattray, Janine Kirby, Pamela J Shaw
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0127376
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