MTTP Antibody

1. Targeted next generation DNA sequencing revealed several rare heterozygous missense variants in both MTTP and APOB genes known or predicted to be deleterious, in addition to a novel heterozygous missense variant in SAR1B, which encodes the gene causing chylomicron retention disease PMID: 29540175
2. Deleterious and protective mutations in MTTP, PNPLA3, and TM6SF2 have been found in Japanese males at risk for non-alcoholic fatty liver disease. PMID: 28950858
3. The s conclude that alternate splicing plays a key role in regulating cellular MTP levels by introducing distinct promoter regions and unique 5'-UTRs, which contain elements that alter translation efficiency, enabling the cell to optimize MTP activity. PMID: 27256115
4. these data reveal clear cellular defects in induced pluripotent stem cells-derived hepatocytes and cardiomyocytes lacking MTTP activity, including a cardiomyocyte-specific regulated stress response to elevated lipids. PMID: 28514664
5. two new hypolipidemic patients with very low plasma triglyceride and apolipoprotein B (apoB) levels with plasma lipid profiles similar to abetalipoproteinemia (ABL) patients, are reported. PMID: 27487388
6. results of this study, examining a cohort of obese children, suggest that the genetic variation at MTTP rs2306986 was associated with higher susceptibility to NAFLD PMID: 28953935
7. Data suggest that amphipathic beta-strands in 200 N-terminal residues of beta1 domain of APOB are required for secretion of lipid-rich or lipid-poor particles; residues 300-700 or 1050-1500 of beta1 domain appear to be required for secretion of lipid-rich particles; MTTP is required for secretion of intact APOB but not of truncated APOB. (APOB = apolipoprotein B; MTTP = microsomal triglyceride transfer protein) PMID: 28702990
8. In chronic hepatitis C patients infected with HCV genotype 3 and with the TT/GT genotype of the MTTP -493G/T SNP, a significant increase in hepatic steatosis was observed, which may indicate that this SNP has a significant influence on the accumulation of triglycerides in hepatocytes. PMID: 28356060
9. High expression of MTTP is associated with high carotid intima-media thickness. PMID: 27841945
10. Its gene mutations are associated with abetalipoproteinemia, developmental delay and hepatic steatosis. PMID: 27160094
11. MTP Gene Variants are associated with Homozygous Familial Hypercholesterolemia. PMID: 27170061
12. the N-terminal domain of MTP is important for its lipid transfer activity PMID: 26224785
13. These studies indicated that SAP18 expression enhanced the recruitment of mSin3A in coordination with TRIB1 to MTTP regulatory elements and increased MTTP expression. PMID: 25921304
14. Results present evidence that MTTP polymorphisms could modulate the lipid homeostasis to determine the serum lipids and increase risk of non-alcoholic fatty liver disease. PMID: 26458397
15. Findings from meta-analysis indicate that the MTP -493G/T polymorphism may contribute to the development of non-alcoholic fatty liver disease. Thus, the MTP -493G/T polymorphism may be a biomarker for the early detection of the disease. PMID: 25501226
16. Homozygous MTTP mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia. PMID: 24842304
17. MTTP SNPs (GG, GT, TT) and alleles (G, T) in the chronic hepatitis C (genotype 4) patients versus the uninfected controls were 70%, 21%, 9% & 80.5%, 19.5% versus 10%, 87.5%, 2.5% & 53.8%, 46.3%, respectively (p=0.0001). PMID: 25287167
18. The MTP-493G/T polymorphism modulates postprandial apoB48 and apoB100 of triglyceride-rich lipoproteins in familial combined hyperlipidemia PMID: 24378322
19. Case Reports: novel mutation in MTTP gene responsible for abetalipoproteinemia in Tunisian families. PMID: 23556456
20. Report of two new mutations of MTTP, a nonsense mutation c.2313T > A leading to a truncated protein (p.Y771X) and a splice mutation IVS 9 + 2T > G, in abetalipoproteinemia PMID: 24139731
21. MTTP genetic polymorphisms influence the susceptibility to developing NAFLD in the Han Chinese population. PMID: 23738963
22. Meta-analysis results revealed that MTP -493G>T polymorphism was strongly correlated with an increased risk of nonalcoholic fatty liver disease. [Meta-analysis] PMID: 24588800
23. The MTTP rs1800591 T allele could be a risk factor for metabolic syndrome in patients under atypical antipsychotic medication PMID: 23609384
24. ABL is associated with the absence of both triglyceride and phospholipid transfer activities in MTP. PMID: 23475612
25. MTP inhibition increased transcription of the GPT/GOT1 genes through up-regulation of the IRE1alpha/cJun pathway leading to increased synthesis and release of ALT1/AST1 PMID: 23532846
26. MTP -493G/T polymorphism may play an important role in fashioning the serum lipid profiles of Bama populations, despite no direct association between MTP -493G/T and longevity was detected. PMID: 23273182
27. An interaction between MTTP -164T > C functional polymorphism with total cholesterol levels and risk of cardiovascular disease. PMID: 23356586
28. The results suggest that the presence of the G allele of MTP -493G/T associated with lower hepatic MTP expression protects against steatosis in our CHC patients PMID: 22147193
29. MTTP mutations found in Tunisian children with chylomicron retention disease and abetalipoproteinemia were shown to disrupt mRNA splicing leading to premature termination codons . PMID: 23043934
30. MTTP gene genotype is significantly overrepresented in centenarians and their offspring. PMID: 22496539
31. two new mutations in MTTP in patients with abetalipoproteinemia PMID: 22150066
32. a novel mechanism of MTP repression that involves binding of NR2F1 to the DR1 element and recruitment of corepressors PMID: 22357705
33. nonalcoholic steatohepatitis(NASH)patients had higher incidence of MTP G/G genotype compared to controls; NASH patients also had a 100% prevalence of MnSOD T/T genotype; certain genotypes in MTP and MnSOD are more prevalent among obese children with NASH PMID: 21727734
34. two mutations lead to abnormal truncated MTTP proteins, incapable of binding protein disulfide isomerase and responsible for the loss of function of MTTP in two children with a severe form of abetalipoproteinemia. PMID: 21394827
35. the single nucleotide polymorphism (SNP) -129C/T (rs17883901) in glutamate-cysteine ligase catalytic subunit (GCLC) and SNPs I128T (rs3816873) and Q95H (rs61733139) in microsomal triglyceride transfer protein (MTTP) in nonalcoholic fatty liver disease PMID: 21438662
36. The MTP gene analysis by direct sequencing revealed a novel homozygous mutation (c.1586 A > G-H529R) in abetalipoproteinemia PMID: 21502686
37. these results suggest that changes in MTP protein expression are not responsible for insulin-mediated suppression of apo B-containing lipoprotein secretion by the liver. PMID: 21316344
38. we report here for the first time that MTP-493G/T polymorphism is associated with pancreatic beta-cell dysfunction, as assessed by two independent and validated methods, in NASH and healthy controls. PMID: 19733470
39. MTP deficiency was associated with increased proteasomal degradation of group 1 CD1 molecules in human abetalipoproteinemia. PMID: 20592474
40. MTTP-I128T polymorphism is associated with central obesity, elevated liver enzymes, and alcoholic fatty liver disease. PMID: 19262398
41. Polymorphisms of glutamate-cystein ligase and microsomal triglyceride transfer protein genes may be associated with non-alcoholic liver disease progression. PMID: 19817962
42. Transcriptional and posttranscriptional mechanisms involving NR2F1 and IRE1beta ensure low microsomal triglyceride transfer protein expression in undifferentiated intestinal cells and avoid apolipoprotein B lipoprotein biosynthesis. PMID: 20007910
43. carriers of the minor -164C allele have lower expression of MTTP in the heart, mediated at least partly by the transcription factor CCAAT/enhancer binding protein. Reduced concentration of MTTP in the myocardium may contribute to ischemic heart disease PMID: 19546343
44. MTP can function in both rough and smooth regions of endoplasmic reticulum in human hepatoma cells. PMID: 12020640
45. Increased MTP gene expression and apoB mRNA levels are found in ventricular myocytes of patients undergoing coronary artery bypass surgery. PMID: 12231571
46. insulin inhibits MTP gene transcription through MAPK(erk) cascade but not through the PI 3-kinase pathway PMID: 12716735
47. MTP genotye -493G/T polymorphism only has a minor effect on LDL cholesterol subfraction pattern in chinese patient. PMID: 12818411
48. genetic association study identified a haplotype marker within microsomal transfer protein as a modifier of human lifespan PMID: 14615589
49. Microsomal triglyceride transfer protein (MTP) has been associated with ABL. PMID: 14741197
50. functional polymorphisms in MTP and MnSOD may be involved in determining susceptibility of non-alcoholic steatohepatitis PMID: 15094225

显示更多

收起更多

HGNC: 7467

OMIM: 157147

KEGG: hsa:4547

STRING: 9606.ENSP00000265517

UniGene: Hs.195799