High density lipoprotein (HDL) cholesterol is an important risk factor for coronary heart
disease, and HDL exerts various potentially antiatherogenic properties, including the …

It is widely believed that HDL functions to transport cholesterol from peripheral cells to the
liver by reverse cholesterol transport, a pathway that may protect against atherosclerosis by …

Tangier disease (TD) was first discovered nearly 40 years ago in two siblings living on
Tangier Island 1. This autosomal co-dominant condition is characterized in the homozygous …

Mutations of the ABC1 transporter have been identified as the defect in Tangier disease,
characterized by low HDL and cholesterol ester accumulation in macrophages. A full-length …

The concentration, composition, shape, and size of plasma high-density lipoprotein (HDL)
are determined by numerous proteins that influence its biogenesis, remodeling, and …

The ABC1 transporter was identified as the defect in Tangier disease by a combined
strategy of gene expression microarray analysis, genetic mapping, and biochemical studies …

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Tangier disease is a rare genetic disorder characterized by extremely low plasma levels of
HDL and apo AI, deposition of cholesteryl esters in tissues, and a high prevalence of …

We and others have recently identified mutations in the ABCA1 gene as the underlying
cause of Tangier disease (TD) and of a dominantly inherited form of familial …

Lipid-poor apolipoproteins remove cellular cholesterol and phospholipids by an active
transport pathway controlled by an ATP binding cassette transporter called ABCA1 (formerly …