Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function.

Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function.

Abetalipoproteinemia (ABL) is a rare Mendelian disorder of lipid metabolism due to genetic deficiency in microsomal triglyceride transfer protein (MTP). It is associated with defects in MTP-mediated lipid transfer onto apolipoprotein B (APOB) and impaired secretion of APOB-containing lipoproteins. R...

Full description

Bibliographic Details
Main Authors: Zeissig, S, Dougan, S, Barral, D, Junker, Y, Chen, Z, Kaser, A, Ho, M, Mandel, H, McIntyre, A, Kennedy, S, Painter, G, Veerapen, N, Besra, G, Cerundolo, V, Yue, S, Beladi, S, Behar, S, Chen, X, Gumperz, J, Breckpot, K, Raper, A, Baer, A, Exley, M, Hegele, R, Cuchel, M
Format: Journal article
Language:English
Published: 2010

Similar Items