Citations for
1APOB, MTTP, PLTP
Lipid transfer proteins in the assembly of apoB-containing lipoproteins
Sirwi A, Hussain MM
J Lipid Res. Jul;59(7):1094-1102. doi: 10.1194/jlr.R083451. Epub 2018 Apr 12. 2018
2MTTP
Molecular cloning, expression, and hormonal regulation of the chicken microsomal triglyceride transfer protein.
Ivessa NE, Rehberg E, Kienzle B, Seif F, Hermann R, Hermann M, Schneider WJ, Gordon DA.
Gene 523(1):1-9. doi: 10.1016/j.gene.2013.03.102. Epub 2013 Mar 29. 2013
3APOA4, CLOCK, MTTP, NOCT
Circadian regulation of intestinal lipid absorption by apolipoprotein AIV involves forkhead transcription factors A2 and O1 and microsomal triglyceride transfer protein.
Pan X, Munshi MK, Iqbal J, Queiroz J, Sirwi AA, Shah S, Younus A, Hussain MM.
J Biol Chem 288(28):20464-76. doi: 10.1074/jbc.M113.473454. 2013
4MTTP, NR2F1
NR2F1 disrupts synergistic activation of the MTTP gene transcription by HNF-4α and HNF-1α.
Dai K, Hussain MM.
J Lipid Res 53(5):901-8. doi: 10.1194/jlr.M025130. Epub 2012 Feb 22. 2012
5ABLP, MTTP
Novel mutations in microsomal triglyceride transfer protein including maternal uniparental disomy in two patients with abetalipoproteinemia.
Aminoff A, Gunnar E, Barbaro M, Mannila MN, Duponchel C, Tosi M, Robinson KL, Hernell O, Ehrenborg E.
Clin Genet 82(2):197-200. doi: 10.1111/j.1399-0004.2011.01828.x. Epub 2011 Dec 29. No abstract available. Erratum in: Clin Genet. 2012 Aug; 2012
6ABLP, MTTP
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
Sani MN, Sabbaghian M, Mahjoob F, Cefalù AB, Averna MR, Rezaei N.
Ann Hepatol 10(2):221-6. 2011
7ABLP, MTTP
A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).
Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, Sassolas A, Lévy E, Tercé F, Collet X, Mas E.
Hum Mutat 32(7):751-9. doi: 10.1002/humu.21494. Epub 2011 Jun 14. Erratum in: Hum Mutat. 2011 Oct;32(10):1191-6. 2011
8MTTP
Primary deficiency of microsomal triglyceride transfer protein in human abetalipoproteinemia is associated with loss of CD1 function.
Zeissig S, Dougan SK, Barral DC, Junker Y, Chen Z, Kaser A, Ho M, Mandel H, McIntyre A, Kennedy SM, Painter GF, Veerapen N, Besra GS, Cerundolo V, Yue S, Beladi S, Behar SM, Chen X, Gumperz JE, Breckpot K, Raper A, Baer A, Exley MA, Hegele RA, Cuchel M, Rader DJ, Davidson NO, Blumberg RS.
J Clin Invest 120(8):2889-99. doi: 10.1172/JCI42703. Epub 2010 Jul 1. 2010
9MTTP
Involvement of microsomal triglyceride transfer protein in nonalcoholic steatohepatitis in novel spontaneous mouse model.
Shindo N, Fujisawa T, Sugimoto K, Nojima K, Oze-Fukai A, Yoshikawa Y, Wang X, Yasuda O, Ikegami H, Rakugi H.
J Hepatol 52(6):903-12. doi: 10.1016/j.jhep.2009.12.033. Epub 2010 Mar 24. 2010
10ERN2, MTTP, NR2F1
NR2F1 and IRE1beta suppress microsomal triglyceride transfer protein expression and lipoprotein assembly in undifferentiated intestinal epithelial cells.
Dai K, Khatun I, Hussain MM.
Arterioscler Thromb Vasc Biol 30(3):568-74. doi: 10.1161/ATVBAHA.109.198135. Epub 2009 Dec 10. 2010
11ABCA1, ABCG5, ABCG8, ABLP, APOB, APOB, APOC2, ARH, FDB, FHBL1, HCHOLA3, HDLDT1, LDLR, LDLRAP1, LIPAD, LPL, MTTP, PBAM, PCSK9, SLC10A2, STSL
Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum.
Rahalkar AR, Hegele RA.
Mol Genet Metab 93(3):282-94. Epub 2007 Nov 26. Review. 2008
12MTTP
Functional analysis of promoter variants in the microsomal triglyceride transfer protein (MTTP) gene.
Rubin D, Schneider-Muntau A, Klapper M, Nitz I, Helwig U, Fšlsch UR, Schrezenmeir J, Dšring F.
Hum Mutat 29(1):123-9. 2008
13MTTP
A common functional exon polymorphism in the microsomal triglyceride transfer protein gene is associated with type 2 diabetes, impaired glucose metabolism and insulin levels.
Rubin D, Helwig U, Pfeuffer M, Schreiber S, Boeing H, Fisher E, Pfeiffer A, Freitag-Wolf S, Foelsch UR, Doering F, Schrezenmeir J.
J Hum Genet 51(6):567-74. Epub 2006 May 24. 2006
14CYP17A1, MTTP,VLDLR
Association of polymorphisms in CYP17A1, MTP, and VLDLR with bone mineral density in community-dwelling Japanese women and men.
Yamada Y, Ando F, Shimokata H.
Genomics 86(1):76-85. Epub 2005 Apr 15. 2005
15MTTP
The c.419-420insA in the MTP gene is associated with abetalipoproteinemia among French-Canadians.
Berthier MT, Couture P, Houde A, Paradis AM, Sammak A, Verner A, Depres JP, Gagne C, Gaudet D, Vohl MC.
Mol Genet Metab 81(2):140-3. 2004
16CD1D, MTTP
CD1d function is regulated by microsomal triglyceride transfer protein.
Brozovic S, Nagaishi T, Yoshida M, Betz S, Salas A, Chen D, Kaser A, Glickman J, Kuo T, Little A, Morrison J, Corazza N, Kim JY, Colgan SP, Young SG, Exley M, Blumberg RS.
Nat Med 10(5):535-9. Epub 2004 Apr 25. 2004
17MTTP
Localization of microsomal triglyceride transfer protein in the Golgi: possible role in the assembly of chylomicrons.
Levy E, Stan S, Delvin E, Menard D, Shoulders C, Garofalo C, Slight I, Seidman E, Mayer G, Bendayan M.
J Biol Chem 277(19):16470-7. Epub 2002 Feb 05. 2002
18MTTP
Effect of microsomal triglyceride transfer protein gene variants (-493G-T, Q95H and H297Q) on plasma lipid levels in healthy middle-aged UK men.
Talmud PJ, Palmen J, Miller G, Humphries SE.
Ann Hum Genet 64 : 269-276. 2000
19ADRA2A, ADRB1, AGTR1, CAFG, CD36, CETP, CSF1, CSF2, CYP11B2, ECE1, EDN1, EDNRA, EDNRB, EGR1, F2R, FGA, FGB, FHBL1, HGF, ICAM1, IGF1, IL1A, IL6, LPA, MGP, MSR1, MTTP, NOS2, NOS3, PDGFA, PDGFRA, SELP, TGFB1, TNF, VCAM1, VDR
Sequence diversity in 36 candidate genes for cardiovascular disorders.
Cambien F, Poirier O, Nicaud V, Herrmann SM, Mallet C, Ricard S, Behague I, Hallet V, Blanc H, Loukaci V, Thillet J, Evans A, Ruidavets JB, Arveiler D, Luc G, Tiret L.
Am J Hum Genet 65(1):183-91. 1999
20ABLP, MTTP
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene.
Yang XP, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H.
Arterioscler Thromb Vasc Biol 19(8):1950-5 1999
21MTTP
Identification of two polymorphisms in the promoter of the microsomal triglyceride transfer protein (MTP) gene : lack of association with lipoprotein profiles.
Herrmann SM, et al.
J Lipid Res 39 : 2432-2435. 1998
22MTTP
Candidate-gene studies of the atherogenic lipoprotein phenotype: a sib-pair linkage analysis of DZ women twins.
Austin MA, Talmud PJ, Luong LA, Haddad L, Day IN, Newman B, Edwards KL, Krauss RM, Humphries SE.
Am J Hum Genet 62(2):406-19. 1998
23MTTP
A common functional polymorphism in the promoter region of the microsomal triglyceride transfer protein gene influences plasma LDL levels.
Karpe F, Lundahl B, Ehrenborg E, Eriksson P, Hamsten A.
Arterioscler Thromb Vasc Biol 18(5):756-61. 1998
24ABLP, MTTP
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.
Rehberg EF, et al.
J Biol Chem 271 : 29945-29952. 1996
25ABLP, MTTP
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.
Narcisi TME, et al.
Am J Hum Genet 57 : 1298-1310. 1995
26MTTP
Human microsomal triglyceride transfer protein large subunit gene structure.
Sharp D, et al.
Biochemistry 33 : 9057-9061. 1994
27ABLP, MTTP
Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein.
Shoulders CC, et al.
Hum Mol Genet 2 : 2109-2116. 1993
28ABLP, MTTP
Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia.
Sharp D, et al.
Nature 365 : 65-69. 1993
29ABLP, MTTP
Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia.
Wetterau JR, et al.
Science 258 : 999-1001. 1992