Article
Loss-of-function mutations in ABCA1 and enhanced β-cell secretory capacity in young adults.
Diabetes - 1 Jan 2015
Rickels Michael R, Goeser Eugen S, Fuller Carissa, Lord Christine, Bowler Anne M, Doliba Nicolai M, Hegele Robert A, Cuchel Marina
Abstract excerpt
Loss-of-function mutations affecting the cholesterol transporter ATP-binding cassette transporter subfamily A member 1 (ABCA1) impair cellular cholesterol efflux and are associated with reduced HDL-cholesterol (HDL-C) levels. ABCA1 may also be important in regulating β-cell cholesterol homeostasis and insulin secretion. We sought to determine whether loss-of-function ABCA1 mutations affect β-cell secretory...
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