THE LDL RECEPTOR LOCUS AND THE GENETICS OF FAMILIAL HYPERCHOLESTEROLEMIA

The Low-Density Lipoprotein Pathway and its Relation to Atherosclerosis

Goldstein, L. J., & Brown, S. M. (1977) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.46.070177.004341 · Cited by 2,455 · see citing works

Binding and Degradation of Low Density Lipoproteins by Cultured Human Fibroblasts

Goldstein, J. L., & Brown, M. S. (1974) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)42341-7 · Cited by 1,485 · see citing works

Hyperlipidemia in Coronary Heart Disease II. GENETIC ANALYSIS OF LIPID LEVELS IN 176 FAMILIES AND DELINEATION OF A NEW INHERITED DISORDER, COMBINED HYPERLIPIDEMIA

Goldstein, J. L., Schrott, H. G., Hazzard, W. R., Bierman, E. L., & Motulsky, A. G. (1973) · Journal of Clinical Investigation · doi:10.1172/jci107332 · Cited by 1,444 · see citing works

Degradation of cationized low density lipoprotein and regulation of cholesterol metabolism in homozygous familial hypercholesterolemia fibroblasts.

Basu, S. K., Goldstein, J. L., Anderson, G. W., & Brown, M. S. (1976) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.73.9.3178 · Cited by 1,021 · see citing works

Competitive inhibition of 3‐hydroxy‐3‐methylglutaryl coenzyme a reductase by ML‐236A and ML‐236B fungal metabolites, having hypocholesterolemic activity

Endo, A., Kuroda, M., & Tanzawa, K. (1976) · FEBS Letters · doi:10.1016/0014-5793(76)80996-9 · Cited by 800 · see citing works

Role of the coated endocytic vesicle in the uptake of receptor-bound low density lipoprotein in human fibroblasts

Anderson, R. G. W., Brown, M. S., & Goldstein, J. L. (1977) · Cell · doi:10.1016/0092-8674(77)90022-8 · Cited by 698 · see citing works

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

Goldstein, J. L., Basu, S. K., Brunschede, G. Y., & Brown, M. S. (1976) · Cell · doi:10.1016/0092-8674(76)90258-0 · Cited by 613 · see citing works

Regulation of 3-Hydroxy-3-methylglutaryl Coenzyme A Reductase Activity in Cultured Human Fibroblasts

Brown, M. S., Dana, S. E., & Goldstein, J. L. (1974) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)42998-0 · Cited by 545 · see citing works

Suppression of 3-Hydroxy-3-methylglutaryl Coenzyme A Reductase Activity and Inhibition of Growth of Human Fibroblasts by 7-Ketocholesterol

Brown, M. S., & Goldstein, J. L. (1974) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)42106-6 · Cited by 500 · see citing works

Regulation of the activity of the low density lipoprotein receptor in human fibroblasts

Brown, M. S., & Goldstein, J. L. (1975) · Cell · doi:10.1016/0092-8674(75)90182-8 · Cited by 484 · see citing works

Familial Hypercholesterolemia: Identification of a Defect in the Regulation of 3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Activity Associated with Overproduction of Cholesterol

Goldstein, J. L., & Brown, M. S. (1973) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.70.10.2804 · Cited by 454 · see citing works

Inhibition of lipoprotein binding to cell surface receptors of fibroblasts following selective modification of arginyl residues in arginine-rich and B apoproteins.

Mahley, R. W., Innerarity, T. L., Pitas, R. E., Weisgraber, K. H., Brown, J. H., & Gross, E. (1977) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)66966-8 · Cited by 383 · see citing works

Cholesterol ester formation in cultured human fibroblasts. Stimulation by oxygenated sterols.

Brown, M., Dana, S., & Goldstein, J. (1975) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)41498-1 · Cited by 364 · see citing works

Localization of low density lipoprotein receptors on plasma membrane of normal human fibroblasts and their absence in cells from a familial hypercholesterolemia homozygote.

Anderson, R. G. W., Goldstein, J. L., & Brown, M. S. (1976) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.73.7.2434 · Cited by 324 · see citing works

Receptor-Mediated Uptake of Lipoprotein-Cholesterol and Its Utilization for Steroid Synthesis in the Adrenal Cortex

BROWN, M. S., KOVANEN, P. T., & GOLDSTEIN, J. L. (1979) · Proceedings of the 1978 Laurentian Hormone Conference · doi:10.1016/b978-0-12-571135-7.50009-6 · Cited by 311 · see citing works

FAMILY STUDY OF SERUM LIPIDS AND LIPOPROTEINS IN CORONARY HEART-DISEASE

Nikkilä, E., & Aro, A. (1973) · The Lancet · doi:10.1016/s0140-6736(73)91598-5 · Cited by 291 · see citing works

Esterification of Low Density Lipoprotein Cholesterol in Human Fibroblasts and Its Absence in Homozygous Familial Hypercholesterolemia

Goldstein, J. L., Dana, S. E., & Brown, M. S. (1974) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.71.11.4288 · Cited by 291 · see citing works

A mutation that impairs the ability of lipoprotein receptors to localise in coated pits on the cell surface of human fibroblasts

Anderson, R. G. W., Goldstein, J. L., & Brown, M. S. (1977) · Nature · doi:10.1038/270695a0 · Cited by 274 · see citing works

Regulation of low density lipoprotein receptor activity in freshly isolated human lymphocytes.

Ho, Y. K., Brown, S., Bilheimer, D. W., & Goldstein, J. L. (1976) · Journal of Clinical Investigation · doi:10.1172/jci108603 · Cited by 258 · see citing works

Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein

Brown, M. D. (1976) · Cell · doi:10.1016/0092-8674(76)90130-6 · Cited by 222 · see citing works

Lipoproteins and Lipid Transport

Havel, R. J. (1976) · The Journal of Japan Atherosclerosis Society · doi:10.5551/jat1973.3.4_341 · Cited by 185 · see citing works

Inhibition of cholesterol synthesis with compactin renders growth of cultured cells dependent on the low density lipoprotein receptor.

Goldstein, J. L., Helgeson, J., & Brown, M. S. (1979) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)50610-4 · Cited by 184 · see citing works

Separate pathways of maturation of the major structural proteins of vesicular stomatitis virus

Knipe, D. M., Baltimore, D., & Lodish, H. F. (1977) · Journal of Virology · doi:10.1128/jvi.21.3.1128-1139.1977 · Cited by 183 · see citing works

The LDL Pathway in Human Fibroblasts: A Receptor-Mediated Mechanism for the Regulation of Cholesterol Metabolism

Goldstein, J. L., & Brown, M. S. (1976) · Current topics in cellular regulation · doi:10.1016/b978-0-12-152811-9.50011-0 · Cited by 182 · see citing works

Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor.

Goldstein, J. L., Dana, S. E., Brunschede, G. Y., et al. (1975) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.72.3.1092 · Cited by 178 · see citing works

The distribution and composition of serum lipoproteins in eighteen animals

MILLS, G. L., & Taylaur, C. E. (1971) · Comparative Biochemistry and Physiology Part B Comparative Biochemistry · doi:10.1016/0305-0491(71)90234-3 · Cited by 163 · see citing works

Low Density Lipoprotein Receptors in Bovine Adrenal Cortex. I. Receptor-Mediated Uptake of Low Density Lipoprotein and Utilization of Its Cholesterol for Steroid Synthesis in Cultured Adrenocortical Cells*

Kovanen, P. T., Faust, J. R., Brown, M. S., & Goldstein, J. L. (1979) · Endocrinology · doi:10.1210/endo-104-3-599 · Cited by 163 · see citing works

The metabolism of the apoprotein of plasma low density lipoprotein in familial hype rbetalipoproteinaemia in the homozygous form

Simons, L. A., Reichl, D., Myant, N. B., & Mancini, M. (1975) · Atherosclerosis · doi:10.1016/0021-9150(75)90087-8 · Cited by 143 · see citing works

Regulation of cholesterol synthesis by low density lipoprotein in isolated human lymphocytes

Ho, Y. K., Faust, J. R., Bilheimer, D. W., Brown, M., & Goldstein, J. L. (1977) · The Journal of Experimental Medicine · doi:10.1084/jem.145.6.1531 · Cited by 143 · see citing works

Occurrence of low density lipoprotein receptors within large pits on the surface of human fibroblasts as demonstrated by freeze-etching

Orci, L., Carpentier, J. L., Perrelet, A., et al. (1978) · Experimental Cell Research · doi:10.1016/0014-4827(78)90081-2 · Cited by 112 · see citing works

Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and the esterification of cholesterol in human long term lymphoid cell lines

Kayden, H. J., Hatam, L., & Beratis, N. G. (1976) · Biochemistry · doi:10.1021/bi00648a011 · Cited by 76 · see citing works

Inhibition of the binding of low‐density lipoprotein to its cell surface receptor in human fibroblasts by positively charged proteins

Brown, M. S., Deuel, T. F., Basu, S. K., & Goldstein, J. L. (1978) · Journal of Supramolecular Structure · doi:10.1002/jss.400080302 · Cited by 75 · see citing works

Heterozygous familial hypercholesterolemia: Failure of normal allele to compensate for mutant allele at a regulated genetic locus

Goldstein, J. L., Sobhani, M. K., Faust, J. R., et al. (1976) · Cell · doi:10.1016/0092-8674(76)90110-0 · Cited by 75 · see citing works

Receptor-mediated uptake of low density lipoprotein reconstituted with 25-hydroxycholesteryl oleate suppresses 3-hydroxy-3-methylglutaryl-coenzyme A reductase and inhibits growth of human fibroblasts

Krieger, M., Goldstein, J. L., & Brown, M. S. (1978) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.75.10.5052 · Cited by 52 · see citing works

Linkage studies in a large kindred with familial hypercholesterolemia.

Ott, J., Schrott, H. G., Goldstein, J. L., et al. (1974) · PubMed · Cited by 49 · see citing works

Familial hypercholesterolemia: model for genetic receptor disease.

Brown, M. S., & Goldstein, J. L. (1979) · PubMed · Cited by 35 · see citing works

Phenotypic diversity of human diseases resulting from allelic series.

Va, M. (1973) · Europe PMC (PubMed Central) · Cited by 34 · see citing works

Plasma Lipoproteins: Structure and Metabolism

Kane, J. P. (1977) · Springer eBooks · doi:10.1007/978-1-4684-2832-2_6 · Cited by 32 · see citing works

Probable linkage between essential familial hypercholesterolemia and third complement component (C3)

Elston, R. C., Namboodiri, K. K., Go, R. C. P., et al. (2008) · Cytogenetics and Cell Genetics · doi:10.1159/000130613 · Cited by 28 · see citing works

Screening for familial hyper-beta-lipoproteinaemia in children in hospital.

Leonard, J. V., Fosbrooke, A. S., Lloyd, J. K., et al. (1976) · Archives of Disease in Childhood · doi:10.1136/adc.51.11.842 · Cited by 18 · see citing works

Rare and common variants: twenty arguments

Gibson, G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3118 · Cited by 1,278 · see citing works

Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients

Goldberg, A. C., Hopkins, P. N., Toth, P. P., Ballantyne, C. M., Rader, D. J., Robinson, J. G., Daniels, S. R., Gidding, S. S., de Ferranti, S. D., Ito, M. K., et al. (2011) · Journal of clinical lipidology · doi:10.1016/j.jacl.2011.03.001 · Cited by 622 · see citing works

Effects of an Inhibitor of 3-Hydroxy-3-Methylglutaryl Coenzyme a Reductase on Serum Lipoproteins and Ubiquinone-10 Levels in Patients with Familial Hypercholesterolemia

Mabuchi, H., Haba, T., Tatami, R., Miyamoto, S., Sakai, Y., Wakasugi, T., Watanabe, A., Koizumi, J., & Takeda, R. (1981) · New England Journal of Medicine · doi:10.1056/nejm198108273050902 · Cited by 262 · see citing works

From Lipids to Inflammation: New Approaches to Reducing Atherosclerotic Risk

Shapiro, M. D., & Fazio, S. (2016) · Circulation Research · doi:10.1161/circresaha.115.306471 · Cited by 217 · see citing works

Genetics of Zoarces populations I. Three loci determining the phosphoglucomutase isoenzymes in brain tissue

Hjorth, J. P. (2009) · Hereditas · doi:10.1111/j.1601-5223.1971.tb02438.x · Cited by 47 · see citing works

Fine mapping of low-density lipoprotein receptor gene by genetic linkage on chromosome 19p13.1-p13.3 and study of the founder effect of four French Canadian low-density lipoprotein receptor gene mutations

Couture, P., Morissette, J., Gaudet, D., et al. (1999) · Atherosclerosis · doi:10.1016/s0021-9150(98)00267-6 · Cited by 24 · see citing works

Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana

Pereira, E., Ferreira, R., Hermelin, B., et al. (1995) · Human Genetics · doi:10.1007/bf00210415 · Cited by 34 · see citing works

Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients

Ahmed, W., Ajmal, M., Sadeque, A., et al. (2012) · Molecular Biology Reports · doi:10.1007/s11033-012-1568-1 · Cited by 6 · see citing works

Evidence for a third genetic locus causing familial hypercholesterolemia: a non-LDLR, non-APOB kindred

Haddad, L., Day, I. N. M., Hunt, S. C., Williams, R. R., Humphries, S. E., & Hopkins, P. N. (1999) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)33515-x · Cited by 70 · see citing works