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The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa
Includes bibliographical references (leaves 82-88).
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| Main Author: | |
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| Other Authors: | |
| Format: | Thesis |
| Language: | English |
| Published: |
Department of Medicine
2014
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| _version_ | 1867613265081663488 |
|---|---|
| access_status_str | Open Access |
| author | Abera, Aron |
| author2 | Henderson, Howard |
| author_browse | Abera, Aron Henderson, Howard |
| author_facet | Henderson, Howard Abera, Aron |
| author_sort | Abera, Aron |
| collection | Thesis |
| description | Includes bibliographical references (leaves 82-88). |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/3502 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:33:23.204Z |
| 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 | Department of Medicine |
| publisherStr | Department of Medicine |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/3502 The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa Abera, Aron Henderson, Howard Marais, A David Medicine Includes bibliographical references (leaves 82-88). 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. 2014-07-29T09:38:57Z 2014-07-29T09:38:57Z 2005 Master Thesis Masters MSc http://hdl.handle.net/11427/3502 eng application/pdf Department of Medicine Faculty of Health Sciences University of Cape Town |
| spellingShingle | Medicine Abera, Aron The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa |
| thesis_degree_str | Master's |
| title | The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa |
| title_full | The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa |
| title_fullStr | The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa |
| title_full_unstemmed | The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa |
| title_short | The molecular and cellular defect underlying autosomal recessive hypercholesterolemia (ARH) in the first kindred identified in South Africa |
| title_sort | molecular and cellular defect underlying autosomal recessive hypercholesterolemia arh in the first kindred identified in south africa |
| topic | Medicine |
| url | http://hdl.handle.net/11427/3502 |
| work_keys_str_mv | AT aberaaron themolecularandcellulardefectunderlyingautosomalrecessivehypercholesterolemiaarhinthefirstkindredidentifiedinsouthafrica AT aberaaron molecularandcellulardefectunderlyingautosomalrecessivehypercholesterolemiaarhinthefirstkindredidentifiedinsouthafrica |