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Familial hypercholesterolemia: A genetic defect in the low-density lipoprotein receptor

Author

Michael Stuart Brown

1941 -

Joseph L. Goldstein

1940 -

Published in: The New England Journal of Medicine

Date of publication: June 1, 1976

Language: English

Main subject: hypercholesterolemia, lipoprotein, familial hypercholesterolemia

Bibliographic databases:

Cites articles 16

Date

Title

Authors

September 1, 1964

THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA
May 1, 1970

Regulation of cholesterol metabolism. I.
October 1973

Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol
February 1, 1974

Paradoxical increase in rate of catabolism of low-density lipoproteins after hepatectomy
July 1, 1974

Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man.
March 1974

Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity
March 1, 1975

Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor
April 1, 1975

Use of mutant fibroblasts in the analysis of the regulation of cholesterol metabolism in human cells
March 1, 1975

The metabolism of the apoprotein of plasma low density lipoprotein in familial hype rbetalipoproteinaemia in the homozygous form,The metabolism of the apoprotein of plasma low density lipoprotein in familial hyperbetalipoproteinaemia in the homozygous form
December 1975

Reduction in cholesterol and low density lipoprotein synthesis after portacaval shunt surgery in a patient with homozygous familial hypercholesterolemia

,
October 1, 1975

Homozygous familial hypercholesterolemia. A possible biochemical explanation of clinical heterogeneity
October 1, 1975

A new type of familial hypercholesterolaemia
February 1, 1975

Familial hypercholesterolemia. A genetic regulatory defect in cholesterol metabolism
January 1, 1976

Binding, internalization, and degradation of low density lipoprotein by normal human fibroblasts and by fibroblasts from a case of homozygous familial hypercholesterolemia
January 16, 1976

Receptor-mediated control of cholesterol metabolism
January 1, 1976

Release of low density lipoprotein from its cell surface receptor by sulfated glycosaminoglycans

Article -

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