Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 6 of 6 for “"spinocerebellar ataxia type 7(SCA7)"”.
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Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin-7 gene. The South African SCA7 population has been shown to have arisen due to a founder effect, and a single nucleotide polymorphism (SNP) within ataxin-7 has …
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Spinocerebellar ataxia type 7 in southern africa: an epidemiological, molecular and cellular study
Spinocerebellar ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by a pathogenic expansion of a CAG repeat within the ataxin 7 gene, resulting in an expanded polyglutamine tract in the ATXN7 protein. SCA7 patients suffer from selective degeneration of cerebellar Purkinje …
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Role of The Gcn5 Histone Acetyltransferase In Spinocerebellar Ataxia Type 7 and In Immature Neurons
<p>Spinocerebellar Ataxia type 7 (SCA7) is a neurodegenerative disease caused by expansion of a CAG repeat encoding a polyglutamine tract in ATXN7, a component of the SAGA histone acetyltransferase (HAT) complex. Previous studies provided conflicting evidence regarding the effects of polyQ-ATXN7 on …
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Novel cell models for the study of spinocerebellar ataxia type 7 pathogenesis and therapy in a South African patient cohort
Spinocerebellar ataxia type 7 (SCA7) is a dominantly-inherited neurodegenerative disease, resulting from a CAG trinucleotide repeat expansion in the ataxin-7 gene. The Ataxin-7 protein is known to play a role in transcriptional regulation through association with cellular histone acetylation …
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Molecular Genetic Analysis of Spinocerebellar Ataxia Type 7 and a Further Study on the RNA Interference Analysis
Spinocerebellar ataxia type 7 (SCA7), autosomal dominant cerebellar ataxia type II (ADCA II), is a progressive autosomal dominant neurodegenerative disorder characterized clinically by cerebellar ataxia and blindness resulting from dysfunction and degeneration mainly of the cerebellum and retina. …
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Defining The Functions of Usp22 and Usp44 In Regulation of H2Bub1 Levels
… is involved in a neurodegenerative disease, spinocerebellar ataxia type 7 (SCA7), due to a polyglutamine (polyQ) expansion in its N-terminal region. Given the allosteric regulation of USP22 DUB activity within the DUBm, whether and how the polyQ expansion in ATXN7 affects SAGA DUB activity …