Matches in SemOpenAlex for { <https://semopenalex.org/work/W3034856796> ?p ?o ?g. }
- W3034856796 abstract "Polyglutamine spinocerebellar ataxias (polyQ SCAs) include SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17 and constitute a group of adult onset neurodegenerative disorders caused by the expansion of a CAG repeat sequence located within the coding region of specific genes, which translates into polyglutamine tract in the corresponding proteins. PolyQ SCAs are characterized by degeneration of the cerebellum and its associated structures and lead to progressive ataxia and other diverse symptoms. In recent years, gene and epigenetic deregulations have been shown to play a critical role in the pathogenesis of polyQ SCAs. Here, we provide an overview of the functions of wild type and pathogenic polyQ SCA proteins in gene regulation, describe the extent and nature of gene expression changes and their pathological consequences in diseases, and discuss potential avenues to further investigate converging and distinct disease pathways and to develop therapeutic strategies." @default.
- W3034856796 created "2020-06-19" @default.
- W3034856796 creator A5004447443 @default.
- W3034856796 creator A5066236037 @default.
- W3034856796 creator A5067227324 @default.
- W3034856796 date "2020-06-09" @default.
- W3034856796 modified "2023-10-14" @default.
- W3034856796 title "Gene Deregulation and Underlying Mechanisms in Spinocerebellar Ataxias With Polyglutamine Expansion" @default.
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