Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 4 of 4 for “"Tangier disease"”.
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tissue-specific role of ATP binding cassette transporter A1 in atherogenesis
… of mature plasma HDL. Mutations in ABCA1 cause Tangier disease, characterized by extremely low plasma HDL cholesterol (HDL-C) levels and widespread storage of cholesterol in macrophages. We developed hepatocyte- and macrophage-specific ABCA1 knockout mice (HSKO and MSKO, respectively) and …
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Genetic polymorphism of the human apolipoproteins A and E
… of apo A-I and A-II in a patient homozygous for Tangier disease. It was also utilised to screen patients undergoing cardiac catheterisation, no variants of apo A-I and A-II were detected in this patient population. The presence of a minor apo A-IV variant in these patients requires confirmation …
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RARE ABCA1 VARIANTS FOUND ONLY IN AFRICAN AMERICANS AND HOW THEY AFFECT LIPID EFFLUX AND NASCENT HDL FORMATION
Discovery of Tangier disease and subsequent discovery of ATP binding cassette transporter A1 (ABCA1) as the gene responsible for the disease has changed the study of lipoproteins due to almost non-existent levels of HDL-C and increased atherosclerosis in these subjects. The idea that HDL-C and …
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The impact of genetic variation in ABCA1 on cholesterol metabolism, atherosclerosis and diabetes
… particles. In humans,ABCA1 deficiency results in Tangier disease, characterized by low levels of HDL cholesterol, cellular cholesterol accumulation and increased risk for atherosclerosis. More than 100 coding variants have been described in the ABCA1 gene. We attempted to understand how both …