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- W2969698346 abstract "PolyQ neurodegenerative diseases are caused by expansion of polyQ-encoding CAG repeats. Though all polyQ diseases share the hallmark of polyQ tract misfolding, the protein context in which each expansion occurs influences toxicity. Alternative splicing, a mechanism for achieving functional diversity from a given gene, has rarely been investigated as a contributing factor to protein context in polyQ diseases. Here we address the role of alternative splicing in Spinocerebellar Ataxia type 3, taking advantage of emerging insights into the biological function of the disease protein ataxin-3, a de-ubiquitinating enzyme. In brain tissue from YAC transgenic mice expressing either normal (Q15) or expanded (Q84) versions of the complete human MJD1 gene encoding ataxin-3, we identified multiple minor splice isoforms at the mRNA level, including some that are predicted to alter functional domains of ataxin-3. Further analysis suggests that, of the two known alternative C-termini, most ataxin-3 contains the C-terminus encoding a third ubiquitin interacting motif (UIM), both in neonatal and adult brain and in mice expressing Q15 or Q84 ataxin-3. Characterizing the functional activity of these splice variants, particularly those that alter catalytic residues and UIM number, will be important to our understanding of ataxin-3 function in vivo and may shed light on the selective toxicity of expanded ataxin-3." @default.
- W2969698346 created "2019-08-29" @default.
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- W2969698346 date "2007-01-01" @default.
- W2969698346 modified "2023-09-25" @default.
- W2969698346 title "Alternative Splicing of Ataxin‐3, a Polyglutamine (polyQ) Disease Protein" @default.
- W2969698346 doi "https://doi.org/10.1096/fasebj.21.6.a1274" @default.
- W2969698346 hasPublicationYear "2007" @default.
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