ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice.

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Damrath, Ewa; Heck, Melanie V.; Gispert, Suzana; Azizov, Mekhman; Nowock, Joachim; Seifried, Carola; Rüb, Udo; Walter, Michael; Auburger, Georg;
  • Publisher: Public Library of Science (PLoS)
  • Journal: PLoS Genetics,volume 8,issue 8 (issn: 1553-7390, eissn: 1553-7404)
  • Publisher copyright policies & self-archiving
  • Related identifiers: doi: 10.1371/journal.pgen.1002920, pmc: PMC3431311
  • Subject: Molecular Genetics | Neurobiology of Disease and Regeneration | Protein Translation | Animal Models | Research Article | Biology | Genetics of Disease | Neuroscience | Genotypes | Heredity | Mouse | QH426-470 | Genetics | Phenotypes | Histology | Model Organisms | Gene Regulation | Animal Genetics | Behavioral Neuroscience | Gene Expression
    • ddc: ddc:610

Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)(31). This is thought to mediate toxic gain-of-function by protein aggregation and to affect RNA processing, resulting in degenerat... View more
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