Title : Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration.

Pub. Date : 2008

PMID : 18418675






10 Functional Relationships(s)
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1 Spinocerebellar ataxia type 7 (SCA7) is unique among CAG/polyglutamine (polyQ) repeat diseases due to dramatic intergenerational instability in repeat length and an associated cone-rod dystrophy retinal degeneration phenotype. polyglutamine ataxin 7 Homo sapiens
2 Spinocerebellar ataxia type 7 (SCA7) is unique among CAG/polyglutamine (polyQ) repeat diseases due to dramatic intergenerational instability in repeat length and an associated cone-rod dystrophy retinal degeneration phenotype. polyglutamine ataxin 7 Homo sapiens
3 Spinocerebellar ataxia type 7 (SCA7) is unique among CAG/polyglutamine (polyQ) repeat diseases due to dramatic intergenerational instability in repeat length and an associated cone-rod dystrophy retinal degeneration phenotype. polyglutamine ataxin 7 Homo sapiens
4 Spinocerebellar ataxia type 7 (SCA7) is unique among CAG/polyglutamine (polyQ) repeat diseases due to dramatic intergenerational instability in repeat length and an associated cone-rod dystrophy retinal degeneration phenotype. polyglutamine ataxin 7 Homo sapiens
5 SCA7 is caused by a polyQ expansion in the protein ataxin-7. polyglutamine ataxin 7 Homo sapiens
6 SCA7 is caused by a polyQ expansion in the protein ataxin-7. polyglutamine ataxin 7 Homo sapiens
7 Several potential mechanisms for the molecular pathogenesis of polyQ-expanded ataxin-7 have been suggested. polyglutamine ataxin 7 Homo sapiens
8 These include, but are not limited to, alteration of endogenous ataxin-7 function, abnormal processing and stability of polyQ ataxin-7, and alteration of transcriptional regulation via interaction of polyQ-expanded ataxin-7 with other transcriptional regulators. polyglutamine ataxin 7 Homo sapiens
9 These include, but are not limited to, alteration of endogenous ataxin-7 function, abnormal processing and stability of polyQ ataxin-7, and alteration of transcriptional regulation via interaction of polyQ-expanded ataxin-7 with other transcriptional regulators. polyglutamine ataxin 7 Homo sapiens
10 PolyQ-expanded ataxin-7 can cause non-cell autonomous neurodegeneration in cerebellar Purkinje cells. polyglutamine ataxin 7 Homo sapiens