Microsomal triglyceride transfer protein large subunit
Definition:
References:
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[1]. E F Rehberg, et al. A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. J Biol Chem. 1996 Nov 22;271(47):29945-52. [Content Brief]
[2]. Sharon A Miller, et al. Novel missense MTTP gene mutations causing abetalipoproteinemia. Biochim Biophys Acta. 2014 Oct;1842(10):1548-54. [Content Brief]
[3]. H Jamil, et al. An inhibitor of the microsomal triglyceride transfer protein inhibits apoB secretion from HepG2 cells. Proc Natl Acad Sci U S A. 1996 Oct 15;93(21):11991-5. [Content Brief]
[4]. Mathilde Di Filippo, et al. Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. J Lipid Res. 2012 Mar;53(3):548-555. [Content Brief]
[5]. Paul Rava, et al. Transfer of cholesteryl esters and phospholipids as well as net deposition by microsomal triglyceride transfer protein. J Lipid Res. 2005 Aug;46(8):1779-85. [Content Brief]
[6]. Irani Khatun, et al. Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. J Lipid Res. 2013 Jun;54(6):1541-1549. [Content Brief]
[7]. Paul Rava, et al. Phospholipid transfer activity of microsomal triacylglycerol transfer protein is sufficient for the assembly and secretion of apolipoprotein B lipoproteins. J Biol Chem. 2006 Apr 21;281(16):11019-27. [Content Brief]
[8]. Meghan T Walsh, et al. Novel Abetalipoproteinemia Missense Mutation Highlights the Importance of the N-Terminal β-Barrel in Microsomal Triglyceride Transfer Protein Function. Circ Cardiovasc Genet. 2015 Oct;8(5):677-87. [Content Brief]