Literature DB >> 6279983

The LDL receptor defect in familial hypercholesterolemia. Implications for pathogenesis and therapy.

J L Goldstein, M S Brown.   

Abstract

Familial hypercholesterolemia results from one of several genetic defects in a cell surface receptor that normally controls the degradation of low density lipoprotein. The clinical and genetic features and the pathophysiology of these defects are discussed. Knowledge of the regulation of LDL receptors in the liver can be exploited in the design of a physiologically rooted therapy for familial hypercholesterolemia.

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Year:  1982        PMID： 6279983     DOI： 10.1016/s0025-7125(16)31424-9

Source DB:  PubMed          Journal:  Med Clin North Am        ISSN： 0025-7125            Impact factor:   5.456


  29 in total

Review 1.  Approaching the asymptote: obstacles and opportunities for nanomedicine in cardiovascular disease.

Authors:  Sascha N Goonewardena
Journal:  Curr Atheroscler Rep       Date:  2012-06       Impact factor: 5.113

Review 2.  Regulation of cholesterol homeostasis.

Authors:  Leigh Goedeke; Carlos Fernández-Hernando
Journal:  Cell Mol Life Sci       Date:  2011-10-19       Impact factor: 9.261

3.  The human asialoglycoprotein receptor is a possible binding site for low-density lipoproteins and chylomicron remnants.

Authors:  E Windler; J Greeve; B Levkau; V Kolb-Bachofen; W Daerr; H Greten
Journal:  Biochem J       Date:  1991-05-15       Impact factor: 3.857

Review 4.  Recent Developments in Gene Therapy for Homozygous Familial Hypercholesterolemia.

Authors:  Ezim Ajufo; Marina Cuchel
Journal:  Curr Atheroscler Rep       Date:  2016-05       Impact factor: 5.113

Review 5.  Sex differences in vascular physiology and pathophysiology: estrogen and androgen signaling in health and disease.

Authors:  Austin C Boese; Seong C Kim; Ke-Jie Yin; Jean-Pyo Lee; Milton H Hamblin
Journal:  Am J Physiol Heart Circ Physiol       Date:  2017-06-16       Impact factor: 4.733

Review 6.  The evaluation and treatment of hypercholesterolemia in primary care practice.

Authors:  W L Peters; A H Goroll
Journal:  J Gen Intern Med       Date:  1986 May-Jun       Impact factor: 5.128

7.  Delayed clearance of very low density and intermediate density lipoproteins with enhanced conversion to low density lipoprotein in WHHL rabbits.

Authors:  T Kita; M S Brown; D W Bilheimer; J L Goldstein
Journal:  Proc Natl Acad Sci U S A       Date:  1982-09       Impact factor: 11.205

8.  Human noninsulin-dependent diabetes: identification of a defect in plasma cholesterol transport normalized in vivo by insulin and in vitro by selective immunoadsorption of apolipoprotein E.

Authors:  C J Fielding; G M Reaven; P E Fielding
Journal:  Proc Natl Acad Sci U S A       Date:  1982-10       Impact factor: 11.205

9.  Treatment of familial hypercholesterolemia by portacaval anastomosis: effect on cholesterol metabolism and pool sizes.

Authors:  D J McNamara; E H Ahrens; R Kolb; C D Brown; T S Parker; N O Davidson; P Samuel; R M McVie
Journal:  Proc Natl Acad Sci U S A       Date:  1983-01       Impact factor: 11.205

10.  Six DNA polymorphisms in the low density lipoprotein receptor gene: their genetic relationship and an example of their use for identifying affected relatives of patients with familial hypercholesterolaemia.

Authors:  S Humphries; L King-Underwood; V Gudnason; M Seed; S Delattre; V Clavey; J C Fruchart
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318
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