Article
Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I.
The Journal of clinical investigation - 1 May 2005
Timmins Jenelle M, Lee Ji-Young, Boudyguina Elena, Kluckman Kimberly D, Brunham Liam R, Mulya Anny, Gebre Abraham K, Coutinho Jonathan M, Colvin Perry L, Smith Thomas L, Hayden Michael R, Maeda Nobuyo, Parks John S
Abstract excerpt
Patients with Tangier disease exhibit extremely low plasma HDL concentrations resulting from mutations in the ATP-binding cassette, sub-family A, member 1 (ABCA1) protein. ABCA1 controls the rate-limiting step in HDL particle assembly by mediating efflux of cholesterol and phospholipid from cells to lipid-free apoA-I, which forms nascent HDL particles. ABCA1 is widely expressed; however, the specific tissues...
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