leucine and Apolipoprotein B-100, Familial Defective

leucine has been researched along with Apolipoprotein B-100, Familial Defective in 14 studies

Research

Studies (14)

Timeframe	Studies, this research(%)	All Research%
pre-1990	1 (7.14)	18.7374
1990's	4 (28.57)	18.2507
2000's	4 (28.57)	29.6817
2010's	4 (28.57)	24.3611
2020's	1 (7.14)	2.80

Authors

Authors	Studies
Benito-Vicente, A; Calle, X; Cenarro, A; Civeira, F; Galicia-Garcia, U; Jebari-Benslaiman, S; Lambert, G; Larrea-Sebal, A; Martín, C; Palacios, L; Sánchez-Hernández, RM; Stef, M; Uribe, KB	1
Bea, AM; Cenarro, A; Civeira, F; Jarauta, E; Lamiquiz-Moneo, I; Marco-Benedí, V; Martín, C; Mateo-Gallego, R; Pérez-Calahorra, S	1
Awan, Z; Bamimore, MA; Choi, HY; Gagnon, MH; Genest, J; Hegele, RA; Husa, R; Kathiresan, S; Peloso, GM; Ruel, I; Seidah, NG; Stitziel, N; Wang, RH	1
Fajkusová, L; Freiberger, T; Pavloušková, J; Réblová, K; Tichý, L	1
Bertolini, S; Calandra, S; Pisciotta, L; Rabacchi, C; Sallo, R; Wunsch, A	1
Emi, M; Ezura, Y; Hopkins, PN; Hunt, SC; Iino, Y; Katayama, Y; Larringa-Shum, S; Ono, S; Stephenson, SH; Takada, D; Wu, LL; Xin, Y	1
Bergeron, J; Couture, P; Gagné, C; Hogue, JC; Lamarche, B; Ruel, I; Tremblay, AJ	1
Diffenderfer, MR; Fisher, WR; Friday, KE; Hall, CM; Kilgore, LL; Marsh, JB; Stacpoole, PW; Sumner, AE; Venkatakrishnan, V; Zech, LA	1
Bourbon, M; Fowler, AM; Soutar, AK; Sun, XM	1
Elias, N; Patterson, BW; Schonfeld, G	1
Aegerter, P; Boileau, C; Devillers, M; Junien, C; Krempf, M; Rabès, JP; Varret, M; Villéger, L	1
Fisher, WR; Kilgore, LL; Stacpoole, PW; Zech, LA	1
Gudnason, V; Humphries, S; King-Underwood, L; Knight, B; Patel, D; Seed, M; Soutar, A	1
Muth, J; Shireman, RB; Toth, JP	1

Reviews

1 review(s) available for leucine and Apolipoprotein B-100, Familial Defective

Article	Year
R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia. Arteriosclerosis, thrombosis, and vascular biology, 2000, Volume: 20, Issue:10 Topics: Adolescent; Adult; Aged; Apolipoproteins B; Child; Child, Preschool; Cholesterol, LDL; Female; Haplotypes; Heterozygote; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hyperlipoproteinemia Type II; Leucine; Lod Score; Male; Middle Aged; Mutation; Nuclear Family; Pedigree; Polymorphism, Restriction Fragment Length; Proline; Receptors, LDL	2000

Article

Year

R3531C mutation in the apolipoprotein B gene is not sufficient to cause hypercholesterolemia.

Arteriosclerosis, thrombosis, and vascular biology, 2000, Volume: 20, Issue:10

Topics: Adolescent; Adult; Aged; Apolipoproteins B; Child; Child, Preschool; Cholesterol, LDL; Female; Haplotypes; Heterozygote; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hyperlipoproteinemia Type II; Leucine; Lod Score; Male; Middle Aged; Mutation; Nuclear Family; Pedigree; Polymorphism, Restriction Fragment Length; Proline; Receptors, LDL

2000

Other Studies

13 other study(ies) available for leucine and Apolipoprotein B-100, Familial Defective

Article	Year
Leu22_Leu23 Duplication at the Signal Peptide of PCSK9 Promotes Intracellular Degradation of LDLr and Autosomal Dominant Hypercholesterolemia. Arteriosclerosis, thrombosis, and vascular biology, 2022, Volume: 42, Issue:7 Topics: Cholesterol, LDL; Humans; Hyperlipoproteinemia Type II; Leucine; Proprotein Convertase 9; Protein Sorting Signals; Receptors, LDL	2022
Lipid-lowering response in subjects with the p.(Leu167del) mutation in the APOE gene. Atherosclerosis, 2019, Volume: 282 Topics: Adult; Alleles; Apolipoproteins E; Case-Control Studies; Cholesterol, LDL; Ezetimibe; Female; Gene Deletion; Heterozygote; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hyperlipoproteinemia Type II; Leucine; Lipid Metabolism; Male; Middle Aged; Mutation; Receptors, LDL; Retrospective Studies	2019
APOE p.Leu167del mutation in familial hypercholesterolemia. Atherosclerosis, 2013, Volume: 231, Issue:2 Topics: Adult; Apolipoproteins B; Apolipoproteins E; Cholesterol, LDL; DNA Mutational Analysis; Female; Gene Deletion; Humans; Hyperlipoproteinemia Type II; Leucine; Ligands; Male; Mutation; Myocardial Infarction; Pedigree; Proprotein Convertase 9; Proprotein Convertases; Receptors, LDL; Risk; Sequence Analysis, DNA; Serine Endopeptidases; Xanthomatosis	2013
Functional analysis of the p.(Leu15Pro) and p.(Gly20Arg) sequence changes in the signal sequence of LDL receptor. Atherosclerosis, 2016, Volume: 250 Topics: Animals; Arginine; CHO Cells; Cricetinae; Cricetulus; Endoplasmic Reticulum; Glycine; Heterozygote; Humans; Hyperlipoproteinemia Type II; Leucine; Microscopy, Confocal; Mutation; Pedigree; Proline; Protein Folding; Protein Sorting Signals; Protein Structure, Secondary; Receptors, LDL	2016
Leucine 10 allelic variant in signal peptide of PCSK9 increases the LDL cholesterol-lowering effect of statins in patients with familial hypercholesterolaemia. Nutrition, metabolism, and cardiovascular diseases : NMCD, 2012, Volume: 22, Issue:10 Topics: Adult; Alleles; Apolipoproteins E; Cholesterol, LDL; Female; Gene Frequency; Homozygote; Humans; Hydroxymethylglutaryl-CoA Reductase Inhibitors; Hyperlipoproteinemia Type II; Leucine; Linear Models; Male; Middle Aged; Mutation; Polymorphism, Genetic; Proprotein Convertase 9; Proprotein Convertases; Protein Sorting Signals; Receptors, LDL; Sequence Analysis, DNA; Serine Endopeptidases	2012
Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred. American journal of medical genetics. Part A, 2003, Aug-30, Volume: 121A, Issue:2 Topics: Adult; Amino Acid Substitution; Cholesterol, HDL; Codon; Female; Genetic Variation; Heterozygote; Humans; Hyperlipoproteinemia Type II; Isoleucine; Leucine; Lipoproteins; Male; Middle Aged; Pedigree; Phenotype; Plasma; Polymorphism, Single Nucleotide; Receptors, LDL; Receptors, Somatotropin	2003
Lack of evidence for reduced plasma apo B48 catabolism in patients with heterozygous familial hypercholesterolemia carrying the same null LDL receptor gene mutation. Atherosclerosis, 2004, Volume: 172, Issue:2 Topics: Adult; Apolipoprotein B-48; Apolipoproteins B; Chylomicron Remnants; Chylomicrons; Heterozygote; Humans; Hyperlipoproteinemia Type II; Isotopes; Leucine; Male; Mutation; Receptors, LDL	2004
Kinetic evidence for both a fast and a slow secretory pathway for apolipoprotein A-I in humans. Journal of lipid research, 1995, Volume: 36, Issue:7 Topics: Apolipoprotein A-I; Apolipoprotein A-II; Female; Humans; Hyperlipoproteinemia Type II; Kinetics; Leucine; Middle Aged; Tritium	1995
Inheritance of two different alleles of the low-density lipoprotein (LDL)-receptor gene carrying the recurrent Pro664Leu mutation in a patient with homozygous familial hypercholesterolaemia. Clinical genetics, 1999, Volume: 56, Issue:3 Topics: Alleles; Base Sequence; DNA Primers; Female; Genetic Markers; Homozygote; Humans; Hyperlipoproteinemia Type II; Leucine; Male; Microsatellite Repeats; Pedigree; Point Mutation; Proline; Receptors, LDL	1999
In vivo metabolism of ApoB, ApoA-I, and VLDL triglycerides in a form of hypobetalipoproteinemia not linked to the ApoB gene. Arteriosclerosis, thrombosis, and vascular biology, 2000, Volume: 20, Issue:5 Topics: Adult; Apolipoprotein A-I; Apolipoproteins B; Cholesterol; Cholesterol, LDL; Chromosomes, Human, Pair 2; Deuterium; Female; Genetic Linkage; Humans; Hyperlipoproteinemia Type II; Kinetics; Leucine; Lipoproteins, VLDL; Male; Middle Aged; Mutation; Triglycerides	2000
Metabolic pathways of apolipoprotein B in heterozygous familial hypercholesterolemia: studies with a [3H]leucine tracer. Journal of lipid research, 1991, Volume: 32, Issue:11 Topics: Adult; Apolipoproteins B; Female; Heterozygote; Humans; Hyperlipoproteinemia Type II; Kinetics; Leucine; Male; Middle Aged; Models, Biological; Tritium	1991
Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK. Clinical genetics, 1991, Volume: 40, Issue:1 Topics: Adolescent; Adult; Base Sequence; Codon; Female; Genetic Carrier Screening; Haplotypes; Humans; Hyperlipoproteinemia Type II; Leucine; Male; Middle Aged; Molecular Sequence Data; Mutation; Pedigree; Polymerase Chain Reaction; Polymorphism, Genetic; Proline; Receptors, LDL; United Kingdom	1991
[14C]acetate incorporation by cultured normal, familial hypercholesterolemia and Down's syndrome fibroblasts. Biochimica et biophysica acta, 1988, Feb-19, Volume: 958, Issue:3 Topics: Acetates; Acetic Acid; Carbon Radioisotopes; Cells, Cultured; Cholesterol; Down Syndrome; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Hyperlipoproteinemia Type II; Insulin; Leucine; Protein Biosynthesis; Receptors, LDL; Selenium; Transferrin	1988