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CRISPR-Cas9 screens in human cells and primary neurons identify modifiers of C9ORF72 dipeptide-repeat-protein toxicity.
Kramer NJ, Haney MS, Morgens DW, Jovičić A, Couthouis J, Li A, Ousey J, Ma R, Bieri G, Tsui CK, Shi Y, Hertz NT, Tessier-Lavigne M, Ichida JK, Bassik MC, Gitler AD. Kramer NJ, et al. Among authors: gitler ad. Nat Genet. 2018 Apr;50(4):603-612. doi: 10.1038/s41588-018-0070-7. Epub 2018 Mar 5. Nat Genet. 2018. PMID: 29507424 Free PMC article.
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.
Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, Armakola M, Geser F, Greene R, Lu MM, Padmanabhan A, Clay-Falcone D, McCluskey L, Elman L, Juhr D, Gruber PJ, Rüb U, Auburger G, Trojanowski JQ, Lee VM, Van Deerlin VM, Bonini NM, Gitler AD. Elden AC, et al. Among authors: gitler ad. Nature. 2010 Aug 26;466(7310):1069-75. doi: 10.1038/nature09320. Nature. 2010. PMID: 20740007 Free PMC article.
A yeast functional screen predicts new candidate ALS disease genes.
Couthouis J, Hart MP, Shorter J, DeJesus-Hernandez M, Erion R, Oristano R, Liu AX, Ramos D, Jethava N, Hosangadi D, Epstein J, Chiang A, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Solski JA, Williams KL, Mojsilovic-Petrovic J, Ingre C, Boylan K, Graff-Radford NR, Dickson DW, Clay-Falcone D, Elman L, McCluskey L, Greene R, Kalb RG, Lee VM, Trojanowski JQ, Ludolph A, Robberecht W, Andersen PM, Nicholson GA, Blair IP, King OD, Bonini NM, Van Deerlin V, Rademakers R, Mourelatos Z, Gitler AD. Couthouis J, et al. Among authors: gitler ad. Proc Natl Acad Sci U S A. 2011 Dec 27;108(52):20881-90. doi: 10.1073/pnas.1109434108. Epub 2011 Nov 7. Proc Natl Acad Sci U S A. 2011. PMID: 22065782 Free PMC article.
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.
Couthouis J, Hart MP, Erion R, King OD, Diaz Z, Nakaya T, Ibrahim F, Kim HJ, Mojsilovic-Petrovic J, Panossian S, Kim CE, Frackelton EC, Solski JA, Williams KL, Clay-Falcone D, Elman L, McCluskey L, Greene R, Hakonarson H, Kalb RG, Lee VM, Trojanowski JQ, Nicholson GA, Blair IP, Bonini NM, Van Deerlin VM, Mourelatos Z, Shorter J, Gitler AD. Couthouis J, et al. Among authors: gitler ad. Hum Mol Genet. 2012 Jul 1;21(13):2899-911. doi: 10.1093/hmg/dds116. Epub 2012 Mar 27. Hum Mol Genet. 2012. PMID: 22454397 Free PMC article.
Exome sequencing to identify de novo mutations in sporadic ALS trios.
Chesi A, Staahl BT, Jovičić A, Couthouis J, Fasolino M, Raphael AR, Yamazaki T, Elias L, Polak M, Kelly C, Williams KL, Fifita JA, Maragakis NJ, Nicholson GA, King OD, Reed R, Crabtree GR, Blair IP, Glass JD, Gitler AD. Chesi A, et al. Among authors: gitler ad. Nat Neurosci. 2013 Jul;16(7):851-5. doi: 10.1038/nn.3412. Epub 2013 May 26. Nat Neurosci. 2013. PMID: 23708140 Free PMC article.
TDP-43 in ALS: stay on target…almost there.
Jovičić A, Gitler AD. Jovičić A, et al. Among authors: gitler ad. Neuron. 2014 Feb 5;81(3):463-5. doi: 10.1016/j.neuron.2014.01.034. Neuron. 2014. PMID: 24507183 Free PMC article.
A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories.
Akimoto C, Volk AE, van Blitterswijk M, Van den Broeck M, Leblond CS, Lumbroso S, Camu W, Neitzel B, Onodera O, van Rheenen W, Pinto S, Weber M, Smith B, Proven M, Talbot K, Keagle P, Chesi A, Ratti A, van der Zee J, Alstermark H, Birve A, Calini D, Nordin A, Tradowsky DC, Just W, Daoud H, Angerbauer S, DeJesus-Hernandez M, Konno T, Lloyd-Jani A, de Carvalho M, Mouzat K, Landers JE, Veldink JH, Silani V, Gitler AD, Shaw CE, Rouleau GA, van den Berg LH, Van Broeckhoven C, Rademakers R, Andersen PM, Kubisch C. Akimoto C, et al. Among authors: gitler ad. J Med Genet. 2014 Jun;51(6):419-24. doi: 10.1136/jmedgenet-2014-102360. Epub 2014 Apr 4. J Med Genet. 2014. PMID: 24706941 Free PMC article.
173 results