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

Simple item page
dc.contributor.advisorGreenberg, Jacquieen_ZA
dc.contributor.advisorScholefield, Janineen_ZA
dc.contributor.advisorWeinberg, Marcoen_ZA
dc.contributor.authorBerkowitz, Danielle Claireen_ZA
dc.date.accessioned2014-12-26T14:16:26Z
dc.date.available2014-12-26T14:16:26Z
dc.date.issued2011en_ZA
dc.descriptionIncludes bibliographical references (leaves 106-116).en_ZA
dc.description.abstractSpinocerebellar 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 linesen_ZA
dc.identifier.apacitationBerkowitz, 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/11427/10123en_ZA
dc.identifier.chicagocitationBerkowitz, 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/11427/10123en_ZA
dc.identifier.citationBerkowitz, 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.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
dc.identifier.urihttp://hdl.handle.net/11427/10123
dc.identifier.vancouvercitationBerkowitz 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/11427/10123en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDivision of Human Geneticsen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherHuman Geneticsen_ZA
dc.titleDevelopment of a SCA7 patient-derived lymphoblast cell model for testing RNAi knock-down of the disease-causing geneen_ZA
dc.typeMaster Thesis
dc.type.qualificationlevelMasters
dc.type.qualificationnameMScen_ZA
uct.type.filetypeText
uct.type.filetypeImage
uct.type.publicationResearchen_ZA
uct.type.resourceThesisen_ZA
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
thesis_hsf_2011_berkowitz_d_c_masters.pdf
Size:
2.98 MB
Format:
Adobe Portable Document Format
Description:
Download
Collections
Masters