Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene

Includes bibliographical references (leaves 106-116). === 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 si...

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Main Author:	Berkowitz, Danielle Claire
Other Authors:	Greenberg, Jacquie
Format:	Dissertation
Language:	English
Published:	University of Cape Town 2014
Subjects:	Human Genetics
Online Access:	http://hdl.handle.net/11427/10123

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spelling	ndltd-netd.ac.za-oai-union.ndltd.org-uct-oai-localhost-11427-101232020-10-06T05:11:32Z Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene Berkowitz, Danielle Claire Greenberg, Jacquie Scholefield, Janine Weinberg, Marco Human Genetics Includes bibliographical references (leaves 106-116). 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 been linked to the SCA7 mutation in all South African patients genotyped to date. Recently, this SNP has been exploited in a potential allele-specific RNA interference (RNAi) based therapy, in order to knock down the expression of the mutant transcript in heterozygous patients. Although this approach has been tested in an artificial cellbased model of SCA7, focus has shifted towards testing the therapy in SCA7 patient-derived transformed lymphoblast cell lines 2014-12-26T14:16:26Z 2014-12-26T14:16:26Z 2011 Master Thesis Masters MSc http://hdl.handle.net/11427/10123 eng application/pdf University of Cape Town Faculty of Health Sciences Division of Human Genetics
collection	NDLTD
language	English
format	Dissertation
sources	NDLTD
topic	Human Genetics
spellingShingle	Human Genetics Berkowitz, Danielle Claire Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
description	Includes bibliographical references (leaves 106-116). === 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 been linked to the SCA7 mutation in all South African patients genotyped to date. Recently, this SNP has been exploited in a potential allele-specific RNA interference (RNAi) based therapy, in order to knock down the expression of the mutant transcript in heterozygous patients. Although this approach has been tested in an artificial cellbased model of SCA7, focus has shifted towards testing the therapy in SCA7 patient-derived transformed lymphoblast cell lines
author2	Greenberg, Jacquie
author_facet	Greenberg, Jacquie Berkowitz, Danielle Claire
author	Berkowitz, Danielle Claire
author_sort	Berkowitz, Danielle Claire
title	Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
title_short	Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
title_full	Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
title_fullStr	Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
title_full_unstemmed	Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
title_sort	development of a sca7 patient-derived lymphoblast cell model for testing rnai knock-down of the disease-causing gene
publisher	University of Cape Town
publishDate	2014
url	http://hdl.handle.net/11427/10123
work_keys_str_mv	AT berkowitzdanielleclaire developmentofasca7patientderivedlymphoblastcellmodelfortestingrnaiknockdownofthediseasecausinggene
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Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene

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