Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Peripheral neuropathy in abetalipoproteinemia.
|
2991816 |
1985 |
Abetalipoproteinemia
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Peripheral neuropathy in abetalipoproteinemia.
|
2991816 |
1985 |
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 |
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 |
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 |
CLINVAR |
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.
|
8533758 |
1995 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia.
|
8533758 |
1995 |
Abetalipoproteinemia
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia.
|
7782284 |
1995 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fluorescence in situ hybridization (FISH) analyses using BCR and ABL probes showed that in 20% of metaphases BCR and ABL signals were present on one chromosome 6 at 6p23, whilst in 80% of metaphases BCR and ABL signals were identified on both copies of chromosome 6.
|
7596189 |
1995 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the current study we have characterized the gene encoding a microsomal triglyceride-transfer protein (MTP), localized to chromosome 4q22-24, and have identified a mutation of the MTP gene in both alleles of all individuals in a cohort of eight patients with classical ABL.
|
8533758 |
1995 |
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 |
UNIPROT |
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
Biomarker
|
disease |
BEFREE |
It is not clear how loss of MTP in ABL patients leads to a complete, but specific, block in the secretion of apoB.
|
8808765 |
1996 |
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 |
Abetalipoproteinemia (ABL) is a rare autosomal recessive deficiency of apoB-containing lipoproteins caused by a microsomal triglyceride transfer protein (MTP) deficiency.
|
10446076 |
1999 |
Abetalipoproteinemia
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
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 |
CausalMutation
|
disease |
CLINVAR |
These results indicated that defects of the MTP gene are the proximal cause of ABL.
|
10946006 |
2000 |