The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease.
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ABSTRACT:
SUBMITTER: Haeusler AR
PROVIDER: S-EPMC7376590 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Publications
The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease.
Haeusler Aaron R AR Donnelly Christopher J CJ Rothstein Jeffrey D JD
Nature reviews. Neuroscience 20160506 6
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 ...[more]
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