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

27 May 2015

Abstract excerpt

OBJECTIVE: 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 from the repeat sequence has been proposed. METHODS: Gene expression profiling utilised total RNA extracted from motor neurons and...

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PMID: 26016851
DOI: 10.1371/journal.pone.0127376

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