Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene
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| dc.contributor.advisor | Greenberg, Jacquie | en_ZA |
| dc.contributor.advisor | Scholefield, Janine | en_ZA |
| dc.contributor.advisor | Weinberg, Marco | en_ZA |
| dc.contributor.author |
Berkowitz, Danielle Claire
|
en_ZA |
| dc.date.accessioned | 2014-12-26T14:16:26Z | |
| dc.date.available | 2014-12-26T14:16:26Z | |
| dc.date.issued | 2011 | en_ZA |
| dc.identifier.citation | Berkowitz, D. 2011. Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene. University of Cape Town. | en_ZA |
| dc.identifier.uri | http://hdl.handle.net/11427/10123 | |
| dc.description | Includes bibliographical references (leaves 106-116). | en_ZA |
| dc.description.abstract | 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 | en_ZA |
| dc.language.iso | eng | en_ZA |
| dc.subject.other | Human Genetics | en_ZA |
| dc.title | Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene | en_ZA |
| dc.type | Master Thesis | |
| uct.type.publication | Research | en_ZA |
| uct.type.resource | Thesis | en_ZA |
| dc.publisher.institution | University of Cape Town | |
| dc.publisher.faculty | Faculty of Health Sciences | en_ZA |
| dc.publisher.department | Division of Human Genetics | en_ZA |
| dc.type.qualificationlevel | Masters | |
| dc.type.qualificationname | MSc | en_ZA |
| uct.type.filetype | Text | |
| uct.type.filetype | Image | |
| dc.identifier.apacitation | Berkowitz, D. C. (2011). <i>Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics. Retrieved from http://hdl.handle.net/11427/10123 | en_ZA |
| dc.identifier.chicagocitation | Berkowitz, Danielle Claire. <i>"Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2011. http://hdl.handle.net/11427/10123 | en_ZA |
| dc.identifier.vancouvercitation | Berkowitz DC. Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Division of Human Genetics, 2011 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/10123 | en_ZA |
| dc.identifier.ris | TY - Thesis / Dissertation AU - Berkowitz, Danielle Claire AB - 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 DA - 2011 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2011 T1 - Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene TI - Development of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing gene UR - http://hdl.handle.net/11427/10123 ER - | en_ZA |
