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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).
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| Main Author: | |
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
| Published: |
Division of Human Genetics
2014
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| _version_ | 1867613330695258112 |
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| access_status_str | Open Access |
| author | Berkowitz, Danielle Claire |
| author2 | Greenberg, Jacquie |
| author_browse | Berkowitz, Danielle Claire Greenberg, Jacquie |
| author_facet | Greenberg, Jacquie Berkowitz, Danielle Claire |
| author_sort | Berkowitz, Danielle Claire |
| collection | Thesis |
| description | Includes bibliographical references (leaves 106-116). |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/10123 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:34:25.395Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2014 |
| publishDateRange | 2014 |
| publishDateSort | 2014 |
| publisher | Division of Human Genetics |
| publisherStr | Division of Human Genetics |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/10123 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 Division of Human Genetics Faculty of Health Sciences University of Cape Town |
| 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 |
| thesis_degree_str | Master's |
| title | 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_short | 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 |
| topic | Human Genetics |
| url | http://hdl.handle.net/11427/10123 |
| work_keys_str_mv | AT berkowitzdanielleclaire developmentofasca7patientderivedlymphoblastcellmodelfortestingrnaiknockdownofthediseasecausinggene |