The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease

Aaron R. Haeusler, Christopher J. Donnelly, Jeffrey D. Rothstein

Research output: Contribution to journalReview articlepeer-review

Abstract

A nucleotide repeat expansion (NRE) within the chromosome 9 open reading frame 72 (C9orf72) gene was the first of this type of mutation to be linked to multiple neurological conditions, including amyotrophic lateral sclerosis and frontotemporal dementia. The pathogenic mechanisms through which the C9orf72 NRE contributes to these disorders include loss of C9orf72 function and gain-of-function mechanisms of C9orf72 driven by toxic RNA and protein species encoded by the NRE. These mechanisms have been linked to several cellular defects-including nucleocytoplasmic trafficking deficits and nuclear stress-that have been observed in both patients and animal models.

Original languageEnglish (US)
Pages (from-to)383-395
Number of pages13
JournalNature Reviews Neuroscience
Volume17
Issue number6
DOIs
StatePublished - Jun 1 2016

ASJC Scopus subject areas

  • Neuroscience(all)

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