Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous …

JM Leiper, JD Bayliss, RJ Pease, DJ Brett… - Journal of Biological …, 1994 - ASBMB
Apolipoprotein (apo) B is an obligatory component of triglyceride-rich lipoproteins. In the
rare autosomal recessive disorder abetalipoproteinemia (ABL), no triglyceride-rich
lipoproteins are secreted. Mutations in the gene encoding the 97-kDa subunit of a
microsomal triglyceride transfer protein (MTP) cause ABL (Sharp, D., Blinderman, L., Combs,
KA, Klenzle, B., Ricci, B., Wager-Smith, K., Gil, CM, Turck, CW, Bouma, ME, Rader, DJ,
Aggerbeck, LP, Gregg, RE, Gordon, DA, and Wetterau, JR (1993) Nature 365, 65-69; …