Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia.

[1]  J. Gallagher,et al.  The binding of very low density lipoprotein remnants to the low density lipoprotein receptor in familial defective apolipoprotein B-100. , 1993, Atherosclerosis.

[2]  S. R. Thatcher,et al.  A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of this disorder. , 1993, Journal of lipid research.

[3]  J. Gallagher,et al.  Variable expression of the mutation in familial defective apolipoprotein B-100. , 1993, Arteriosclerosis and thrombosis : a journal of vascular biology.

[4]  H. Schuster,et al.  Independent mutation of arginine(3500)-->glutamine associated with familial defective apolipoprotein B-100. , 1993, Journal of lipid research.

[5]  S. Humphries,et al.  Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease. , 1992, Atherosclerosis.

[6]  J. Gallagher,et al.  Effective reduction of plasma LDL levels by LDL apheresis in familial defective apolipoprotein B-100. , 1992, Atherosclerosis.

[7]  A. Castellanos,et al.  Evolution, evaluation, and efficacy of implantable cardioverter-defibrillator technology. , 1992, Circulation.

[8]  E. Krul,et al.  ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: genetic and kinetic studies. , 1992, Journal of lipid research.

[9]  C. Gabelli.  The lipoprotein metabolism of apolipoprotein B mutants , 1992 .

[10]  R. Mahley,et al.  Hypocholesterolaemic effects of lovastatin in familial defective apolipoprotein B-100 , 1992, The Lancet.

[11]  J. Gallagher,et al.  Lipoprotein(a) in subjects with familial defective apolipoprotein B100. , 1992, Atherosclerosis.

[12]  H. Schuster,et al.  Familial defective apolipoprotein B100: clinical characteristics of 54 cases. , 1992, Atherosclerosis.

[13]  R. Brasseur,et al.  Two amino acid substitutions in apolipoprotein B are in complete allelic association with the antigen group (x/y) polymorphism: evidence for little recombination in the 3' end of the human gene. , 1992, American journal of human genetics.

[14]  R. Ferrell,et al.  Expressed hypervariable polymorphism of apolipoprotein (a). , 1991, American journal of human genetics.

[15]  J. Gallagher,et al.  Response to cholesterol-lowering drugs in familial defective apolipoprotein B-100. , 1991, Atherosclerosis.

[16]  P. Talmud,et al.  Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia. , 1991, Atherosclerosis.

[17]  A. Catapano,et al.  Familial defective apo B‐100, characterization of an Italian family , 1991, European journal of clinical investigation.

[18]  A. Soutar,et al.  Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene. , 1991, The Journal of clinical investigation.

[19]  H. Schuster,et al.  Familial defective apolipoprotein B-100: haplotype analysis of the arginine(3500)----glutamine mutation. , 1991, Atherosclerosis.

[20]  P. Talmud,et al.  Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low density lipoprotein receptor function. , 1991, Arteriosclerosis and thrombosis : a journal of vascular biology.

[21]  P. Talmud,et al.  Genetic evidence that the putative receptor binding domain of apolipoprotein B (residues 3130 to 3630) is not the only region of the protein involved in interaction with the low density lipoprotein receptor. , 1991, Biochimica et biophysica acta.

[22]  S. Young,et al.  Genetic abnormalities in apolipoprotein B. , 1991, Trends in cardiovascular medicine.

[23]  B. Paulweber,et al.  Apolipoprotein B gene mutations in Austrian subjects with heart disease and their kindred. , 1991, Arteriosclerosis and thrombosis : a journal of vascular biology.

[24]  L. Curtiss,et al.  13C NMR evidence that substitution of glutamine for arginine 3500 in familial defective apolipoprotein B-100 disrupts the conformation of the receptor-binding domain. , 1991, The Journal of biological chemistry.

[25]  B. Mccarthy,et al.  Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100. , 1990, American journal of human genetics.

[26]  R. Krauss,et al.  Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. , 1990, Journal of lipid research.

[27]  H. Hobbs,et al.  The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. , 1990, Annual review of genetics.

[28]  N. Myant.  Cholesterol Metabolism, LDL, and the LDL Receptor , 1990 .

[29]  S. Humphries,et al.  Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich. , 1990, Arteriosclerosis.

[30]  J. Scott,et al.  A cross-species comparison of the apolipoprotein B domain that binds to the LDL receptor. , 1990, Journal of lipid research.

[31]  R. Hammer,et al.  Overexpression of human low density lipoprotein receptors leads to accelerated catabolism of Lp(a) lipoprotein in transgenic mice. , 1990, The Journal of clinical investigation.

[32]  Y. Arad,et al.  Lovastatin therapy reduces low density lipoprotein apoB levels in subjects with combined hyperlipidemia by reducing the production of apoB-containing lipoproteins: implications for the pathophysiology of apoB production. , 1990, Journal of lipid research.

[33]  R. Krauss,et al.  Pravastatin therapy in primary moderate hypercholesterolaemia: changes in metabolism of apolipoprotein B‐containing lipoproteins , 1990, Journal of internal medicine.

[34]  J. Vincent,et al.  Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases. , 1990, Atherosclerosis.

[35]  T. Magot,et al.  Effect of simvastatin on receptor-dependent low density lipoprotein catabolism in normocholesterolemic human volunteers. , 1989, Atherosclerosis.

[36]  E. Boerwinkle,et al.  Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia. , 1989, Arteriosclerosis.

[37]  H. Hobbs,et al.  Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors. , 1989, The Journal of clinical investigation.

[38]  E. Boerwinkle,et al.  Defects in the low density lipoprotein receptor gene affect lipoprotein (a) levels: multiplicative interaction of two gene loci associated with premature atherosclerosis. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[39]  J L Witztum,et al.  Beyond cholesterol. Modifications of low-density lipoprotein that increase its atherogenicity. , 1989, The New England journal of medicine.

[40]  J. Scott.  The molecular and cell biology of apolipoprotein-B. , 1989, Molecular biology & medicine.

[41]  Charles R.scriver,et al.  The Metabolic basis of inherited disease , 1989 .

[42]  S. Grundy,et al.  Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. , 1989, Proceedings of the National Academy of Sciences of the United States of America.

[43]  S. Grundy,et al.  Lovastatin therapy in receptor-negative homozygous familial hypercholesterolemia: lack of effect on low-density lipoprotein concentrations or turnover. , 1988, The Journal of pediatrics.

[44]  S. Grundy.  HMG-CoA reductase inhibitors for treatment of hypercholesterolemia. , 1988, The New England journal of medicine.

[45]  R. Lees,et al.  Lovastatin (mevinolin) in the treatment of heterozygous familial hypercholesterolemia. A multicenter study. , 1987, Annals of internal medicine.

[46]  R. Krauss,et al.  Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. , 1987, Proceedings of the National Academy of Sciences of the United States of America.

[47]  G. Utermann,et al.  Lp(a) glycoprotein phenotypes. Inheritance and relation to Lp(a)-lipoprotein concentrations in plasma. , 1987, The Journal of clinical investigation.

[48]  S. Grundy,et al.  In vivo evidence for reduced binding of low density lipoproteins to receptors as a cause of primary moderate hypercholesterolemia. , 1986, The Journal of clinical investigation.

[49]  S. Young,et al.  Monoclonal antibody MB19 detects genetic polymorphism in human apolipoprotein B. , 1985, Proceedings of the National Academy of Sciences of the United States of America.

[50]  D R Illingworth,et al.  Mevinolin plus colestipol in therapy for severe heterozygous familial hypercholesterolemia. , 1984, Annals of internal medicine.

[51]  A. Heiberg,et al.  Family similarities in the age at coronary death in familial hypercholesterolaemia. , 1977, British medical journal.

[52]  P. W. Adams,et al.  The effect of cholestyramine on the faecal excretion of bile acids and neutral steroids in familial hypercholesterolaemia. , 1977, Atherosclerosis.