|
Abetalipoproteinemia
|
0.200 |
GeneticVariation
|
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Abetalipoproteinemia and homozygous hypobetalipoproteinemia are classical Mendelian autosomal recessive and co-dominant conditions, respectively, which are phenotypically similar and are usually caused by bi-allelic mutations in MTTP and APOB genes, respectively.
|
29540175 |
2018 |
|
Abetalipoproteinemia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Using induced pluripotent stem cells (iPSCs) generated from an ABL patient homozygous for a missense mutation (MTTP<sup>R46G</sup>), we show that human hepatocytes and cardiomyocytes exhibit defects associated with ABL disease, including loss of apolipoprotein B (apoB) secretion and intracellular accumulation of lipids.
|
28514664 |
2017 |
|
Abetalipoproteinemia
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
We describe two new hypolipidemic patients with very low plasma triglyceride and apolipoprotein B (apoB) levels with plasma lipid profiles similar to abetalipoproteinemia (ABL) patients.
|
27487388 |
2016 |
|
Abetalipoproteinemia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Abetalipoproteinemia is a rare autosomal recessive disorder characterized by the inability to produce chylomicrons or very low-density lipoproteins, with the absence of apolipoprotein B-containing lipoproteins in the circulation.
|
25552696 |
2015 |
|
Abetalipoproteinemia
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Abetalipoproteinemia (ABL) is a rare monogenic disease characterized by very low plasma levels of cholesterol and triglyceride and almost complete absence of apolipoprotein B (apoB)-containing lipoproteins.
|
24139731 |
2014 |
|
Abetalipoproteinemia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Platelet aggregation and redox status were investigated in 5 patients with abetalipoproteinemia (ABLP) or homozygous hypobetalipoproteinemia, two rare metabolic diseases characterized by the absence of apolipoprotein B-containing lipoproteins, compared to 5 control subjects.
|
23507868 |
2013 |
|
Abetalipoproteinemia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Abetalipoproteinemia (ABL; OMIM 200100) is a rare monogenic disorder of lipid metabolism characterized by reduced plasma levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and almost complete absence of apolipoprotein B (apoB).
|
23556456 |
2013 |
|
Abetalipoproteinemia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Abetalipoproteinemia (ABL) is an inherited disease characterized by the defective assembly and secretion of apolipoprotein B-containing lipoproteins caused by mutations in the microsomal triglyceride transfer protein large subunit (MTP) gene (MTTP).
|
22236406 |
2012 |
|
Abetalipoproteinemia
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
ABL results from mutations in the MTP gene; Ho-FHBL may be due to mutations in the APOB gene.
|
19056372 |
2009 |
|
Abetalipoproteinemia
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Abetalipoproteinemia (ABL) and Homozygous Familial Hypobetalipoproteinemia (Ho-FHBL) are rare monogenic diseases characterised by very low plasma levels of cholesterol and triglyceride and the absence or a great reduction of apolipoprotein B (apoB)-containing lipoproteins.
|
19056372 |
2009 |
|
Abetalipoproteinemia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Most patients with Ho-FHBL have mutations in APOB gene resulting in truncated apoBs.
|
18492086 |
2008 |
|
Abetalipoproteinemia
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The FHBL parents had low serum lipid and apoB profiles distinguishing the disorder from the normal levels in ABL parents.
|
18027103 |
2007 |
|
Abetalipoproteinemia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Abetalipoproteinemia (ABL) is a rare autosomal recessive metabolic disorder, characterized by the absence of plasma apolipoprotein B-containing lipoproteins and very low levels of plasma triglycerides and cholesterol.
|
17275380 |
2007 |
|
Abetalipoproteinemia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Familial hypobetalipoproteinemia (FHBL) and abetalipoproteinemia (ABL) are inherited disorders of apolipoprotein B (apo B)-containing lipoproteins that result from mutations in apo B and microsomal triglyceride transfer protein (MTP) genes, respectively.
|
15910857 |
2005 |
|
Abetalipoproteinemia
|
0.200 |
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
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation.
|
11940084 |
2002 |
|
Abetalipoproteinemia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
It is of interest that the patient having the Asn780Tyr mutation, a 27-year-old male, has none of the manifestations characteristic of classic ABL even though his plasma apoB and vitamin E were virtually undetectable.
|
10946006 |
2000 |
|
Abetalipoproteinemia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Abetalipoproteinaemia is a rare disorder of apolipoprotein B metabolism associated with extremely low plasma concentrations of triglyceride.
|
9716144 |
1998 |
|
Abetalipoproteinemia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Abetalipoproteinaemia is a rare autosomal-recessive disorder caused by a defect in the large subunit of the microsomal triglyceride transfer protein (MTP) which is required for the assembly and secretion of apolipoprotein B-containing lipoproteins.
|
9467817 |
1997 |
|
Abetalipoproteinemia
|
0.200 |
Biomarker
|
disease |
BEFREE |
The data show that N-terminal apoB peptides are present in the plasma of six ABL patients, whereas intact apoB-100 was barely detectable.
|
8808765 |
1996 |
|
Abetalipoproteinemia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Lipoproteins containing apolipoprotein B isolated from patients with abetalipoproteinemia and homozygous hypobetalipoproteinemia: identification and characterization.
|
8770313 |
1995 |
|
Abetalipoproteinemia
|
0.200 |
Biomarker
|
disease |
BEFREE |
In the rare recessively inherited disorder abetalipoproteinemia (ABL) the production of apoB-containing lipoproteins is abolished, despite no abnormality of the apoB gene.
|
8533758 |
1995 |
|
Abetalipoproteinemia
|
0.200 |
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
|
0.200 |
Biomarker
|
disease |
BEFREE |
Biochemical and genetic studies show that abetalipoproteinemia is not a defect of lipid biosynthesis or of the apolipoprotein B gene.
|
8111381 |
1993 |