The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa

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dc.contributor.advisorHenderson, Howarden_ZA
dc.contributor.advisorMarais, A Daviden_ZA
dc.contributor.authorAbera, Aronen_ZA
dc.date.accessioned2014-07-29T09:38:57Z
dc.date.available2014-07-29T09:38:57Z
dc.date.issued2005en_ZA
dc.descriptionIncludes bibliographical references (leaves 82-88).
dc.description.abstractMonogenic defects in the low density lipoprotein (LDL) uptake pathway occur commonly in South Africans, particularly in the Afrikaner community where inheritance is typically autosomal dominant, arising predominantly from abnormal structure and thus function of the LDL receptor (LDLr). Defects in LDLr binding domain of apolipopreteinB-100 (apoB-100) are rarely encountered and are know as Familial defective apoB-100 (FDB). Several critical proteins are active in the LDL uptake pathway and their deficiencies are now being shown to underlie the rare autosomal recessive forms of hypercholesterolemia (ARH). One of these proteins is the LDLr adaptor protein know as ARH, which is presumed to facilitate interaction of the cytoplasmic tail of the LDLr with the internal protein matrix required for the receptor internalisation.en_ZA
dc.identifier.apacitationAbera, A. (2005). <i>The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa</i>. (Thesis). University of Cape Town ,Faculty of Health Sciences ,Department of Medicine. Retrieved from http://hdl.handle.net/11427/3502en_ZA
dc.identifier.chicagocitationAbera, Aron. <i>"The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa."</i> Thesis., University of Cape Town ,Faculty of Health Sciences ,Department of Medicine, 2005. http://hdl.handle.net/11427/3502en_ZA
dc.identifier.citationAbera, A. 2005. The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa. University of Cape Town.en_ZA
dc.identifier.ris TY - Thesis / Dissertation AU - Abera, Aron AB - Monogenic defects in the low density lipoprotein (LDL) uptake pathway occur commonly in South Africans, particularly in the Afrikaner community where inheritance is typically autosomal dominant, arising predominantly from abnormal structure and thus function of the LDL receptor (LDLr). Defects in LDLr binding domain of apolipopreteinB-100 (apoB-100) are rarely encountered and are know as Familial defective apoB-100 (FDB). Several critical proteins are active in the LDL uptake pathway and their deficiencies are now being shown to underlie the rare autosomal recessive forms of hypercholesterolemia (ARH). One of these proteins is the LDLr adaptor protein know as ARH, which is presumed to facilitate interaction of the cytoplasmic tail of the LDLr with the internal protein matrix required for the receptor internalisation. DA - 2005 DB - OpenUCT DP - University of Cape Town LK - https://open.uct.ac.za PB - University of Cape Town PY - 2005 T1 - The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa TI - The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa UR - http://hdl.handle.net/11427/3502 ER - en_ZA
dc.identifier.urihttp://hdl.handle.net/11427/3502
dc.identifier.vancouvercitationAbera A. The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa. [Thesis]. University of Cape Town ,Faculty of Health Sciences ,Department of Medicine, 2005 [cited yyyy month dd]. Available from: http://hdl.handle.net/11427/3502en_ZA
dc.language.isoengen_ZA
dc.publisher.departmentDepartment of Medicineen_ZA
dc.publisher.facultyFaculty of Health Sciencesen_ZA
dc.publisher.institutionUniversity of Cape Town
dc.subject.otherMedicineen_ZA
dc.titleThe molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africaen_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
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