Ataxin-2
Template:PBB Ataxin-2 is a protein that in humans is encoded by the ATXN2 gene.[1][2]
In 2010, work from Aaron Gitler and Nancy Bonini at the University of Pennsylvania discovered that intermediate-size CAG repeat expansions are significantly associated with risk for developing amyotrophic lateral sclerosis (Lou Gehrig's disease).[3]
References
- ^ Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Scheufler K, Riley B, Allotey R, Nothers C; et al. (Sep 1993). "Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1". Nat Genet. 4 (3): 295–9. doi:10.1038/ng0793-295. PMID 8358438.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Margolis RL, Abraham MR, Gatchell SB, Li SH, Kidwai AS, Breschel TS, Stine OC, Callahan C, McInnis MG, Ross CA (Jul 1997). "cDNAs with long CAG trinucleotide repeats from human brain". Hum Genet. 100 (1): 114–22. doi:10.1007/s004390050476. PMID 9225980.
{{cite journal}}: CS1 maint: multiple names: authors list (link) - ^ Elden AC, Kim HJ, Hart MP, Chen-Plotkin AS, Johnson BS, Fang X, Armakola M, Geser F, Greene R, Lu MM; et al. (Aug 2010). "Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS". Nature. 466 (7310): 1069–1075. doi:10.1038/nature09320. PMC 2965417. PMID 20740007.
{{cite journal}}: CS1 maint: multiple names: authors list (link)
Further reading
External links
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