Reference : Identification and functional dissection of localization signals within ataxin-3.
Scientific journals : Article
Life sciences : Multidisciplinary, general & others
Identification and functional dissection of localization signals within ataxin-3.
Antony, Paul mailto [University of Tübingen > Medical Genetics]
Mäntele, Simone [University of Tübingen, Medical Genetics.]
Mollenkopf, Phillip [University of Tübingen, Medical Genetics.]
Boy, Jana [University of Tübingen, Medical Genetics.]
Kehlenbach, Ralph [University of Göttingen, Center for Biochemistry and Molecular Cell Biology]
Riess, Olaf [University of Tübingen, Medical Genetics.]
Schmidt, Thorsten [University of Tübingen, Medical Genetics.]
Neurobiology of Disease
Academic Press
Yes (verified by ORBilu)
San Diego
[en] Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) belongs to a group of autosomal dominant neurodegenerative diseases, which are caused by the expansion of a polyglutamine repeat in the affected protein, in this case ataxin-3. Ataxin-3 is mainly localized in the cytoplasm; however, one hallmark of SCA3 is the formation of ataxin-3-containing protein aggregates in the nucleus of neurons. Currently, it is not known how mutant ataxin-3 translocates into the nucleus. We performed localization assays of recently proposed and novel potential signals, functionally confirmed the activity of a nuclear localization signal, identified two novel nuclear export signals (NES 77 and NES 141), and determined crucial amino acids. In addition, we demonstrate the relevance of the identified signals for the intracellular localization of the N- and C-terminus of ataxin-3. Our findings stress the importance of investigating the mechanisms, which influence the intracellular distribution of ataxin-3 during the pathogenesis of SCA3.
Medical Genetics Tubingen
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