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 7 of 7 for “"SCA7"”.
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RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7
… of these disorders, spinocerebellar ataxia 7 (SCA7) exists at a higher frequency in South Africa, than elsewhere in the world, and a founder effect has been demonstrated in South Africa, such that every patient tested thus far is linked to a common ancestor. The manipulation of RNA interference …
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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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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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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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Defining The Functions of Usp22 and Usp44 In Regulation of H2Bub1 Levels
… 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 was not known. To address this …