The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree
Abstract
Abstract. A family presenting several cases of severe primary hypercholesterolaemia and/or premature sudden death was studied. This family is characterized by consanguinity, absence of vertical transmission, bimodal distribution of plasma cholesterol values, and reduction of reproductive fitness in affected individuals. The probands have clinical traits of homozygous familial hypercholesterolaemia, including hypercholesterolaemia, xanthomas and early coronary atherosclerosis, while the parents and grandparents are clinically normal. Eight relatives on the mother's side experienced premature sudden death, and in four cases hypercholesterolaemia was diagnosed. Haplotype segregation analysis of the inheritance of the LDL receptor and apo B genes in the probands' family excluded the involvement of these two genes in the pathogenesis of the disease. LDL receptor activity, as well as the ability of LDL to bind to the LDL receptor, and plasma vegetal sterols were within normal limits both in probands and in their relatives. The study of this pedigree suggests that hypercholesterolaemia is not produced by defects in the LDL receptor or LDL particles, and disease inheritance is consistent with an autosomal recessive trait.
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In the citing paper
“ARH is an adaptor protein required for efficient endocytosis of low density lipoprotein (LDL) receptors (LDLRs) in selected tissues.”
In the citing paper
“Individuals lacking ARH (ARH ؊/؊ ) have severe hypercholesterolemia due to impaired hepatic clearance of LDL.”
In the citing paper
“Patients with ARH have normal LDLR but markedly reduced clearance of circulating LDL by the liver (2,3).”
In the citing paper
“cultured skin fibroblasts, which provided critical insights into other aspects of LDLR function, do not recapitulate the defective LDLR internalization observed in ARH subjects (2).”
In the citing paper
“Autosomal recessive hypercholesterolemia is characterized by a cell type-specific defect in low density lipoprotein receptor (LDLR) endocytosis.”
In the citing paper
“LDLR-mediated uptake of LDL is impaired in the liver, but not in fibroblasts of subjects with this disorder.”
In the citing paper
“LDLR endocytosis is not impaired in ARH-deficient fibroblasts (6 -8)”
Citations
Cites
Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase
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Cited by
Sorted by citations
Garuti, R., Jones, C., Li, W.-P., Michaely, P., Herz, J., Gerard, R. D., Cohen, J. C., & Hobbs, H. H. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m509394200 · Cited by 91
Michaely, P., Li, W.-P., Anderson, R. G. W., Cohen, J. C., & Hobbs, H. H. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m405242200 · Cited by 66
Eden, E. R., Sun, X.-M., Patel, D. D., & Soutar, A. K. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm232 · Cited by 27
Metadata
- Authors
- ZULIANI, G., VIGNA, G. B., CORSINI, A., MAIOLI., M., ROMAGNONI, F., & FELLIN, R.
- Venue
- European Journal of Clinical Investigation
- Publisher
- Wiley
- Published
- 1995-05
- Volume
- 25
- Issue
- 5
- Pages
- 322-331
- ISSN
- 0014-2972
- 1365-2362
- Cited by
- 44
- References
- 1
- Language
- en
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