|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
LDLR activity was measured by flow cytometry, which showed that LDL binding and uptake were reduced in lymphocytes from the ARH patient as compared to control lymphocytes, but were slightly higher than in those from the LDLR:p.(Cys352Ser) heterozygote.
|
30777337 |
2019 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in this gene lead to LDL receptor malfunction and cause the Autosomal Recessive Hypercholesterolemia (ARH) disorder in humans.
|
28257760 |
2017 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Overall, the effects of recombinant PCSK9, and hence of alirocumab, on LDL receptor expression and function were significantly less pronounced in ARH than in control cells.
|
27079874 |
2016 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although it is effective in several familial hypercholesterolemia (FH) patient types, it does not work in homozygous patients with dual allele LDL receptor negative polymorphisms or those who are homozygous for autosomal recessive hypercholesterolemia.
|
26424774 |
2015 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among the issues of hypercholesterolemia which play a pivotal role in development of vascular damages, familial hypercholesterolemia is the common genetic cardiovascular disease; in addition to identifying the gene mutation coding low-density lipoprotein receptor, lipid kinetics in autosomal recessive hypercholesterolemia as well as in proprotein convertase subtilisin/kexin 9 gene mutation were recently demonstrated.
|
23907713 |
2014 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The LDLR tail assumes a unique "Hook"-like structure with a double β-turn conformation, which is accommodated in distinctive ARH structural determinants (i.e., an extended backbone hydrogen-bonding platform, three hydrophobic helical grooves, and a hydrophobic pocket for Y(0)).
|
22509010 |
2012 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
Biomarker
|
disease |
BEFREE |
The defective gene causing autosomal recessive hypercholesterolemia (ARH) encodes ARH, a clathrin-associated adaptor protein required for low-density-lipoprotein receptor endocytosis in most cells but not in skin fibroblasts.
|
21778424 |
2011 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive hypercholesterolemia (ARH) is a lipid disorder caused by mutations in a specific adaptor protein for the LDL receptor.
|
19477448 |
2009 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
Biomarker
|
disease |
BEFREE |
Surprisingly, LDL-receptor function is normal in ARH patients' skin fibroblasts in culture.
|
17761685 |
2007 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ARH is a phenocopy of homozygous familial hypercholesterolemia (HoFH) due to mutations in LDL receptor (LDLR) gene; however, previous studies suggested that ARH phenotype is less severe than that of HoFH.
|
16343504 |
2006 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ARH contains an amino-terminal phosphotyrosine-binding domain that associates physically with the LDL receptor internalization sequence and with phosphoinositides.
|
15728179 |
2005 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
Biomarker
|
disease |
BEFREE |
ARH plays a tissue-specific role in determination of LDL receptor function.
|
15497461 |
2004 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
Biomarker
|
disease |
BEFREE |
We previously characterized the patients with autosomal recessive hypercholesterolemia (ARH) as having severe hypercholesterolemia and retarded plasma low-density lipoprotein (LDL) clearance despite normal LDL receptor (LDLR) function in their cultured fibroblasts, and we identified a mutation in the ARH locus in these patients.
|
15472122 |
2004 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have recently described a recessive form of hypercholesterolemia (autosomal recessive hypercholesterolemia, ARH) in which LDL catabolism is reduced because of a mutation in the gene coding for an adaptor protein that impairs LDL-receptor (LDL-R) activity in the liver.
|
14717060 |
2003 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
Biomarker
|
disease |
BEFREE |
Previously we have reported on siblings with severe hypercholesterolemia, xanthomas, and premature atherosclerosis without any impairment of low-density lipoprotein receptor in their fibroblasts as a first characterization of autosomal recessive hypercholesterolemia (ARH).
|
12788851 |
2003 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
Biomarker
|
disease |
BEFREE |
The available data suggest that ARH functions as an adaptor protein that couples LDLR to the endocytic machinery.
|
12642779 |
2003 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
Biomarker
|
disease |
BEFREE |
Structural features of the ARH protein and its capacity to interact simultaneously with the internalization sequence of the LDL receptor, plasma membrane phospholipids, and the clathrin endocytic machinery suggest how ARH can play a pivotal role in gathering the LDL receptor into forming endocytic carrier vesicles.
|
12958046 |
2003 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
Biomarker
|
disease |
BEFREE |
At steady state, ARH colocalizes with endocytic proteins in HeLa cells, and the LDL receptor fluxes through peripheral ARH-positive sites before delivery to early endosomes.
|
12451172 |
2002 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
Biomarker
|
disease |
BEFREE |
In contrast, LDLR function was markedly reduced in ARH lymphoblasts, despite a 2-fold increase in LDL cell surface binding in these cells.
|
12417523 |
2002 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We described previously two families with autosomal recessive hypercholesterolemia that is not due to mutations in the LDL receptor gene but is characterized by defective LDL receptor-dependent internalization and degradation of LDL by transformed lymphocytes from the patients.
|
12464675 |
2002 |
|
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two inherited forms of hypercholesterolemia result from loss of LDLR activity: autosomal dominant familial hypercholesterolemia (FH), caused by mutations in the LDLR gene, and autosomal recessive hypercholesterolemia (ARH), of unknown etiology.
|
11326085 |
2001 |