@article{3930bdbdc1eb4c02ba67811446a63b01,
title = "The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease",
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.",
author = "Haeusler, {Aaron R.} and Donnelly, {Christopher J.} and Rothstein, {Jeffrey D.}",
note = "Funding Information: The authors thank L. Ranum, A. Gitler, L. Petrucelli, P. Taylor, D. Cleveland, F. Bennet, F. Rigo, J. Wang, P. Wong and T. Lloyd for discussions that helped provide a foundation for this Review. Financial support was provided from the following institutes: the National Institutes of Health-National Institute of Neurological Disorders and Stroke (NIH-NINDS); Target ALS; the Muscular Dystrophy Association; the Robert Packard Center for ALS Research; the Live Like Lou at the Pittsburgh Foundation; and the Brain Institute at the University of Pittsburgh School of Medicine, USA. Publisher Copyright: {\textcopyright} 2016 Macmillan Publishers Limited.",
year = "2016",
month = jun,
day = "1",
doi = "10.1038/nrn.2016.38",
language = "English (US)",
volume = "17",
pages = "383--395",
journal = "Nature Reviews Neuroscience",
issn = "1471-003X",
publisher = "Nature Publishing Group",
number = "6",
}