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Browsing by Author "Scholefield, Janine"

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Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype

Author: Scholefield, Janine ; Greenberg, L Jacquie ; Weinberg, Marc S ; Arbuthnot, Patrick B ; Abdelgany, Amr ; Wood, Matthew J A Date: 2009 Spinocerebellar ataxia type 7 is a polyglutamine disorder caused by an expanded CAG repeat mutation that results in neurodegeneration. Since no treatment exists for this chronic disease, novel therapies such post-transcriptional RNA ... Read more c b
Detailed investigation of the unstable (CAG) repeat and the immediate surrounding region of the IT15 gene in some South African families with Huntington disease

Author: Scholefield, Janine Date: 2005 The primary aim of this study was to investigate the origins of the HD mutation in South Africa (SA) by constructing a single nucleotide polymorphism (SNP) haplotype around the IT15 gene and to determine how many haplotypes there are in SA. ... Read more
Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene

Author: Berkowitz, Danielle Claire Date: 2011 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 ... Read more
RNAi based allele-specific silencing of the disease-causing gene in black South African patients with SCA7

Author: Scholefield, Janine Date: 2008 The polyglutamine disorders are a subgroup of inherited neurodegenerative disorders with a common mutation which confers toxicity via a polyglutamine tract in the protein leading ultimately to various forms of neurodegeneration. One of these ... Read more

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Browsing by Author "Scholefield, Janine"

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