Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we report three patients with severe deficiency of plasma low-density lipoprotein (LDL) and apo B.Two of them (probands F.A. and P.E.) had clinical and biochemical phenotype consistent with ABL.Proband F.A. was homozygous for a minute deletion/insertion (c.1228delCCCinsT) in exon 9 of MTP gene predicted to cause a truncated MTP protein of 412 amino acids.
|
15910857 |
2005 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Abetalipoproteinemia (ABL) is a recessive disorder due to mutations of microsomal triglyceride transfer protein (MTP) gene.
|
14732481 |
2004 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The rare recessive forms of primary monogenic HBL are represented by abetalipoproteinemia (ABL) and chylomicron retention disease (CMRD) due to mutations in MTP and SARA2 genes, respectively.
|
21874758 |
2011 |
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Intestinal lipid malabsorption, resulting from an impaired formation or secretion of chylomicrons and associated with severe hypobetalipoproteinemia (HBL), may be due to biallelic mutations in APOB (homozygous FHBL type-1), MTTP (abetalipoproteinemia), or SAR1B (chylomicron retention disease).
|
31253576 |
2019 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Her cousin was homozygous for 1867+1G>A MTTP mutation and presented most of the classical symptoms of ABL.
|
27578136 |
2017 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thus, mutations in the gene for the large subunit of MTP are a cause of abetalipoproteinemia, which indicates that the MTP is a necessary component for the assembly and secretion of apoB-containing lipoproteins from the liver and intestine.
|
8044420 |
1994 |
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
The results indicate that a defect in the gene for the large subunit of MTP is the proximal cause of abetalipoproteinaemia in these two subjects, and that MTP is required for the secretion of plasma lipoproteins that contain apolipoprotein B.
|
8361539 |
1993 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Structure-function analyses of microsomal triglyceride transfer protein missense mutations in abetalipoproteinemia and hypobetalipoproteinemia subjects.
|
27487388 |
2016 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A search for sequence variants in the large subunit of MTP in a kindred of 10 individuals from Saguenay-Lac-St Jean area with a propositus exhibiting ABL as well as in four independent patients from the greater Quebec city area and exhibiting very low apoB and LDL-cholesterol levels identified 12 variations.
|
14741197 |
2004 |
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Mutations in MTP which result in an absence of MTP function have been shown to cause abetalipoproteinemia.
|
7782284 |
1995 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Characterization of mutations in MTP causing abetalipoproteinemia has revealed that the central α-helical and C-terminal β-sheet domains are important for protein disulfide isomerase binding and lipid transfer activity.
|
26224785 |
2015 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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.
|
8939939 |
1996 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Several mutations in the apoB, proprotein convertase subtilisin/kexin type 9 (PCSK9), and MTP genes result in low or absent levels of apoB and LDL-cholesterol in plasma, which cause familial hypobetalipoproteinemia and abetalipoproteinemia.
|
24751931 |
2014 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that genetic and non-genetic factors can modulate the clinical impact of mutant MTP in ABL patients.
|
10679949 |
2000 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia.
|
23043934 |
2013 |
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
We constructed a long-range restriction map of the tuberous sclerosis (TSC1) region of human chromosome 9q34, extending from ABL (T39-2-2) to D9S114.
|
7590733 |
1995 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The pigmentary retinopathy and neuropathy of abetalipoproteinemia (Mendelian Inheritance of Man 200100; Bassen-Kornzwieg disease), which is caused by mutations in the MTP gene, may involve loss of function at the retina.
|
15654125 |
2005 |
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
Microsomal triglyceride transfer protein (MTP) is necessary for the assembly and secretion of VLDL and when the protein is not functional, such as in abetalipoproteinaemia, a steatohepatitis occurs.
|
10990076 |
2000 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We discovered a novel mutation in MTTP gene and we confirmed the diagnosis of abetalipoproteinemia in new Tunisian families.
|
23556456 |
2013 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Abetalipoproteinemia (ABL) is a rare recessive monogenic disease due to MTTP (microsomal triglyceride transfer protein) mutations leading to the absence of plasma apoB-containing lipoproteins.
|
30875496 |
2019 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
ABL and CRD are rare disorders due to mutations in the MTP and SARA2 genes, respectively.
|
17570373 |
2007 |
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
BEFREE |
We report here the use of a polymorphic CA dinucleotide repeat in intron 10, MTPIVS10, of the large subunit of the human MTP protein in the analysis of a pregnancy in a consanguineous family, in which abetalipoproteinaemia was suspected, although prenatal diagnosis was subsequently refused.
|
9467817 |
1997 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the 97-kDa subunit of a microsomal triglyceride transfer protein (MTP) cause ABL (Sharp, D., Blinderman, L., Combs, K. A., Klenzle, B., Ricci, B., Wager-Smith, K., Gil, C. M., Turck, C. W., Bouma, M. E., Rader, D. J., Aggerbeck, L. P., Gregg, R. E., Gordon, D. A., and Wetterau, J. R. (1993) Nature 365, 65-69; Shoulders, C. C., Brett, D. J., Bayliss, J. D., Narcisi, T. M., Jarmuz, A., Grantham, T. T., Leoni, P. R. D., Bhattacharya, S., Pease, R. J., Cullen, P. M., Levi, S., Byfield, P. G. H., Purkiss, P., and Scott, J.(1993) Hum.Mol.Genet.2, 2109-2116).
|
8071315 |
1994 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrated that ABL SH3 mutant T79Y markedly repressed the expression of BCR-ABL signaling pathways in IM-resistant cell lines KCL22 and K562/G01 as well as IM-sensitive cell line K562.
|
26321052 |
2015 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a novel mutation of MTP gene in a patient with abetalipoproteinemia.
|
21502686 |
2011 |