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References

These sources were used to develop the Genetics Home Reference gene summary on the ATXN3 gene.

D'Abreu A, França MC Jr, Paulson HL, Lopes-Cendes I. Caring for Machado-Joseph disease: current understanding and how to help patients. Parkinsonism Relat Disord. 2010 Jan;16(1):2-7. doi: 10.1016/j.parkreldis.2009.08.012. Epub 2009 Oct 6. Review. PubMed citation
Entrez Gene
Haacke A, Broadley SA, Boteva R, Tzvetkov N, Hartl FU, Breuer P. Proteolytic cleavage of polyglutamine-expanded ataxin-3 is critical for aggregation and sequestration of non-expanded ataxin-3. Hum Mol Genet. 2006 Feb 15;15(4):555-68. Epub 2006 Jan 11. PubMed citation
Nicastro G, Masino L, Esposito V, Menon RP, De Simone A, Fraternali F, Pastore A. Josephin domain of ataxin-3 contains two distinct ubiquitin-binding sites. Biopolymers. 2009 Dec;91(12):1203-14. doi: 10.1002/bip.21210. PubMed citation
OMIM: ATAXIN 3

Reviewed: February 2011

Published: May 13, 2013