Journal
NATURE REVIEWS NEUROSCIENCE
Volume 17, Issue 6, Pages 383-U79Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/nrn.2016.38
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Funding
- National Institutes of Health-National Institute of Neurological Disorders and Stroke (NIH-NINDS)
- Target ALS
- Muscular Dystrophy Association
- Robert Packard Center for ALS Research
- Live Like Lou at the Pittsburgh Foundation
- Brain Institute at the University of Pittsburgh School of Medicine, USA
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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.
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