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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: auburger g. Nature. 2010 Aug 26;466(7310):1069-75. doi: 10.1038/nature09320. Nature. 2010. PMID: 20740007 Free PMC article.
Spinocerebellar ataxia 2 (SCA2).
Lastres-Becker I, Rüb U, Auburger G. Lastres-Becker I, et al. Among authors: auburger g. Cerebellum. 2008;7(2):115-24. doi: 10.1007/s12311-008-0019-y. Cerebellum. 2008. PMID: 18418684 Review.
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients.
Lee T, Li YR, Ingre C, Weber M, Grehl T, Gredal O, de Carvalho M, Meyer T, Tysnes OB, Auburger G, Gispert S, Bonini NM, Andersen PM, Gitler AD. Lee T, et al. Among authors: auburger g. Hum Mol Genet. 2011 May 1;20(9):1697-700. doi: 10.1093/hmg/ddr045. Epub 2011 Feb 3. Hum Mol Genet. 2011. PMID: 21292779 Free PMC article.
Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice.
Becker LA, Huang B, Bieri G, Ma R, Knowles DA, Jafar-Nejad P, Messing J, Kim HJ, Soriano A, Auburger G, Pulst SM, Taylor JP, Rigo F, Gitler AD. Becker LA, et al. Among authors: auburger g. Nature. 2017 Apr 20;544(7650):367-371. doi: 10.1038/nature22038. Epub 2017 Apr 12. Nature. 2017. PMID: 28405022 Free PMC article.
228 results