@article{7c761a92271448499b4cde90d419b875,
title = "Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS",
abstract = "C9orf72 mutations are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Dipeptide repeat proteins (DPRs) produced by unconventional translation of the C9orf72 repeat expansions cause neurodegeneration in cell culture and in animal models. We performed two unbiased screens in Saccharomyces cerevisiae and identified potent modifiers of DPR toxicity, including karyopherins and effectors of Ran-mediated nucleocytoplasmic transport, providing insight into potential disease mechanisms and therapeutic targets.",
author = "Ana Jovi{\v c}i{\v c} and Jerome Mertens and Steven Boeynaems and Elke Bogaert and Noori Chai and Yamada, {Shizuka B.} and Paul, {Joseph W.} and Shuying Sun and Herdy, {Joseph R.} and Gregor Bieri and Kramer, {Nicholas J.} and Gage, {Fred H.} and {Van Den Bosch}, Ludo and Wim Robberecht and Gitler, {Aaron D.}",
note = "Funding Information: We thank J. Ravits and C. Lagier-Tourenne (University of California, San Diego) for sharing the control and C9orf72 ALS patient fibroblasts used in this study. We acknowledge microscopy assistance from the Stanford Neuroscience Microscopy Service, supported by US National Institutes of Health (NIH) grant NS069375. This work was supported by NIH grants 1R01NS065317 and 1R01NS073660 (A.D.G.). A.D.G. is supported by the Packard Center for ALS Research at Johns Hopkins and Target ALS. A.J. is supported by the Dean{\textquoteright}s Postdoctoral Fellowship from Stanford University. S.S. is a recipient of NIH K99/R00 Award (NS091538) and Target ALS Springboard Fellowship. J.M. and F.H.G. are supported by JPB Foundation, the Helmsley Foundation and the Mathers Foundation. Additional research funding was provided by the KU Leuven, the European Research Council in the context of the European{\textquoteright}s Seventh Framework Programme (FP7/2007-2013 and ERC grant agreement 340429), the Fund for Scientific Research Flanders (FWO-Vlaanderen) G.0983.14N, the Interuniversity Attraction Poles Programme P7/16 initiated by the Belgian Science Policy Office, the Association Belge contre les Maladies Neuro-Musculaires (ABMM), the ALS Liga (Belgium) and the Opening the Future fund. S.B. received a fellowship from the Agency for Innovation by Science and Technology IWT. E.B. holds a postdoctoral fellowship from FWO-Vlaanderen. W.R. is supported through the E. von Behring Chair for Neuromuscular and Neurodegenerative Disorders.",
year = "2015",
month = aug,
day = "26",
doi = "10.1038/nn.4085",
language = "English (US)",
volume = "18",
pages = "1226--1229",
journal = "Nature neuroscience",
issn = "1097-6256",
publisher = "Nature Publishing Group",
number = "9",
}