@article{e936b843c8f744a1b187fc9409a6cdac,
title = "RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats",
abstract = "Nucleotide repeat expansions in the C9orf72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. Unconventional translation (RAN translation) of C9orf72 repeats generates dipeptide repeat proteins that can cause neurodegeneration. We performed a genetic screen for regulators of RAN translation and identified small ribosomal protein subunit 25 (RPS25), presenting a potential therapeutic target for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia and other neurodegenerative diseases caused by nucleotide repeat expansions.",
author = "Yamada, {Shizuka B.} and Gendron, {Tania F.} and Teresa Niccoli and Genuth, {Naomi R.} and Rosslyn Grosely and Yingxiao Shi and Idoia Glaria and Kramer, {Nicholas J.} and Lisa Nakayama and Shirleen Fang and Dinger, {Tai J.I.} and Annora Thoeng and Gabriel Rocha and Maria Barna and Puglisi, {Joseph D.} and Linda Partridge and Ichida, {Justin K.} and Isaacs, {Adrian M.} and Leonard Petrucelli and Gitler, {Aaron D.}",
note = "Funding Information: This work was supported by National Institutes of Health (NIH) grants nos. R35NS097263 (A.D.G.), AI099506 (J.D.P), AG064690 (A.D.G. and J.D.P.), R35NS097273 (L.P.), P01NS099114 (T.F.G., L.P) and R01NS097850 (J.K.I.), the Robert Packard Center for ALS Research at Johns Hopkins (L.P., A.D.G.), Target ALS (L.P., A.D.G., T.F.G.), the US Department of Defense (J.D.P., A.D.G., J.K.I.), the Muscular Dystrophy Association (J.K.I.), 2T32HG000044-21 NIHGRI training grant (S.B.Y.), the Brain Rejuvenation Project of the Wu Tsai Neurosciences Institute (A.D.G.), the European Research Council grant no. ERC-2014-CoG-648716 (A.M.I.), Alzheimer{\textquoteright}s Research UK (A.M.I.) and the Medical Research Council (A.M.I.). J.K.I. is supported by funding for a New York Stem Cell Foundation-Robertson Investigatorship. We thank Dr. L. Ranum (University of Florida) for sharing the huntingtin poly(alanine) antibody. We thank M. Bassik for the HeLa Cas9–BFP cell lines. We thank H. Tricoire (French National Center for Scientific Research) for the generous gift of the original elavGS 301.2 line. Publisher Copyright: {\textcopyright} 2019, The Author(s), under exclusive licence to Springer Nature America, Inc.",
year = "2019",
month = sep,
day = "1",
doi = "10.1038/s41593-019-0455-7",
language = "English (US)",
volume = "22",
pages = "1383--1388",
journal = "Nature Neuroscience",
issn = "1097-6256",
publisher = "Nature Publishing Group",
number = "9",
}