EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
   3.3.2.9 | Abetalipoproteinemia |
8533758 |
Mutations of the microsomal triglyceride-transfer-protein gene in abetalipoproteinemia. |
unassigned |
0 |
| 3.3.2.9 | Abetalipoproteinemia |
8889269 |
The genetic basis of primary disorders of intestinal fat transport. |
unassigned |
0 |
| 3.3.2.9 | Abetalipoproteinemia |
8939939 |
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. |
causal interaction
therapeutic application
unassigned |
1
1
0 |
| 3.3.2.9 | Abetalipoproteinemia |
9671739 |
Knockout of the abetalipoproteinemia gene in mice: reduced lipoprotein secretion in heterozygotes and embryonic lethality in homozygotes. |
unassigned |
0 |
| 3.3.2.9 | Abetalipoproteinemia |
9784135 |
An MTP inhibitor that normalizes atherogenic lipoprotein levels in WHHL rabbits. |
therapeutic application
unassigned |
1
0 |
| 3.3.2.9 | Abetalipoproteinemia |
9824535 |
Using genetically engineered mice to understand apolipoprotein-B deficiency syndromes in humans. |
causal interaction
unassigned |
3
0 |
| 3.3.2.9 | Abetalipoproteinemia |
10225972 |
Analysis of the role of microsomal triglyceride transfer protein in the liver of tissue-specific knockout mice. |
causal interaction
unassigned |
4
0 |
| 3.3.2.9 | Abetalipoproteinemia |
10360951 |
Adenovirus-mediated overexpression of microsomal triglyceride transfer protein (MTP): mechanistic studies on the role of MTP in apolipoprotein B-100 biogenesis. |
unassigned |
0 |
| 3.3.2.9 | Abetalipoproteinemia |
10446076 |
Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. |
causal interaction
unassigned |
4
0 |
| 3.3.2.9 | Abetalipoproteinemia |
10679949 |
Microsomal triglyceride transfer protein (MTP) gene mutations in Canadian subjects with abetalipoproteinemia. |
unassigned |
0 |
