265 related articles for article (PubMed ID: 3263645)
1. Deletion in the first cysteine-rich repeat of low density lipoprotein receptor impairs its transport but not lipoprotein binding in fibroblasts from a subject with familial hypercholesterolemia.
Leitersdorf E; Hobbs HH; Fourie AM; Jacobs M; van der Westhuyzen DR; Coetzee GA
Proc Natl Acad Sci U S A; 1988 Nov; 85(21):7912-6. PubMed ID: 3263645
[TBL] [Abstract][Full Text] [Related]
2. Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia.
Hobbs HH; Brown MS; Goldstein JL; Russell DW
J Biol Chem; 1986 Oct; 261(28):13114-20. PubMed ID: 3020025
[TBL] [Abstract][Full Text] [Related]
3. Analysis of a recycling-impaired mutant of low density lipoprotein receptor in familial hypercholesterolemia.
Miyake Y; Tajima S; Funahashi T; Yamamoto A
J Biol Chem; 1989 Oct; 264(28):16584-90. PubMed ID: 2777800
[TBL] [Abstract][Full Text] [Related]
4. A deletion in the first cysteine-rich repeat of the low-density-lipoprotein receptor leads to the formation of multiple misfolded isomers.
Djordjevic JT; Bieri S; Smith R; Kroon PA
Eur J Biochem; 1996 Jul; 239(1):214-9. PubMed ID: 8706711
[TBL] [Abstract][Full Text] [Related]
5. New type of the internalization-defective low-density lipoprotein receptor owing to two-nucleotide deletion (2199delCA or 2201delCA) in Japanese patients with familial hypercholesterolaemia.
Tashiro J; Endo M; Bujo H; Shinomiya M; Morisaki N; Saito Y
Eur J Clin Invest; 1998 Sep; 28(9):712-9. PubMed ID: 9767370
[TBL] [Abstract][Full Text] [Related]
6. Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors.
Soutar AK; Knight BL; Patel DD
Proc Natl Acad Sci U S A; 1989 Jun; 86(11):4166-70. PubMed ID: 2726768
[TBL] [Abstract][Full Text] [Related]
7. First cysteine-rich repeat in ligand-binding domain of low density lipoprotein receptor binds Ca2+ and monoclonal antibodies, but not lipoproteins.
van Driel IR; Goldstein JL; Südhof TC; Brown MS
J Biol Chem; 1987 Dec; 262(36):17443-9. PubMed ID: 3320043
[TBL] [Abstract][Full Text] [Related]
8. FH-Freiburg: a novel missense mutation (C317Y) in growth factor repeat A of the low density lipoprotein receptor gene in a German patient with homozygous familial hypercholesterolemia.
Nauck MS; Scharnagl H; Nissen H; Schürmann C; Matern D; Nauck MA; Wieland H; März W
Atherosclerosis; 2000 Aug; 151(2):525-34. PubMed ID: 10924730
[TBL] [Abstract][Full Text] [Related]
9. Partial duplication of the EGF precursor homology domain of the LDL-receptor protein causing familial hypercholesterolemia (FH-Salerno).
Bertolini S; Patel DD; Coviello DA; Lelli N; Ghisellini M; Tiozzo R; Masturzo P; Elicio N; Knight BL; Calandra S
J Lipid Res; 1994 Aug; 35(8):1422-30. PubMed ID: 7989866
[TBL] [Abstract][Full Text] [Related]
10. Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
Etxebarria A; Benito-Vicente A; Stef M; Ostolaza H; Palacios L; Martin C
Atherosclerosis; 2015 Feb; 238(2):304-12. PubMed ID: 25545329
[TBL] [Abstract][Full Text] [Related]
11. Deletion of two growth-factor repeats from the low-density-lipoprotein receptor accelerates its degradation.
van der Westhuyzen DR; Stein ML; Henderson HE; Marais AD; Fourie AM; Coetzee GA
Biochem J; 1991 Aug; 277 ( Pt 3)(Pt 3):677-82. PubMed ID: 1872803
[TBL] [Abstract][Full Text] [Related]
12. Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit.
Yamamoto T; Bishop RW; Brown MS; Goldstein JL; Russell DW
Science; 1986 Jun; 232(4755):1230-7. PubMed ID: 3010466
[TBL] [Abstract][Full Text] [Related]
13. Analysis of two duplications of the LDL receptor gene affecting intracellular transport, catabolism, and surface binding of the LDL receptor.
Patel DD; Lelli N; Garuti R; Li Volti S; Bertolini S; Knight BL; Calandra S
J Lipid Res; 1998 Jul; 39(7):1466-75. PubMed ID: 9684750
[TBL] [Abstract][Full Text] [Related]
14. The important role for betaVLDLs binding at the fourth cysteine of first ligand-binding domain in the low-density lipoprotein receptor.
Iwasaki T; Takahashi S; Ishihara M; Takahashi M; Ikeda U; Shimada K; Fujino T; Yamamoto TT; Hattori H; Emi M
J Hum Genet; 2004; 49(11):622-628. PubMed ID: 15459764
[TBL] [Abstract][Full Text] [Related]
15. A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews.
Leitersdorf E; Reshef A; Meiner V; Dann EJ; Beigel Y; van Roggen FG; van der Westhuyzen DR; Coetzee GA
Hum Genet; 1993 Mar; 91(2):141-7. PubMed ID: 8462973
[TBL] [Abstract][Full Text] [Related]
16. Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene.
Rødningen OK; Tonstad S; Medh JD; Chappell DA; Ose L; Leren TP
J Lipid Res; 1999 Feb; 40(2):213-20. PubMed ID: 9925649
[TBL] [Abstract][Full Text] [Related]
17. Unexpected consequences of deletion of the first two repeats of the ligand-binding domain from the low density lipoprotein receptor. Evidence from a human mutation.
Sass C; Giroux LM; Lussier-Cacan S; Davignon J; Minnich A
J Biol Chem; 1995 Oct; 270(42):25166-71. PubMed ID: 7559651
[TBL] [Abstract][Full Text] [Related]
18. Mutational analysis of the ligand binding domain of the low density lipoprotein receptor.
Esser V; Limbird LE; Brown MS; Goldstein JL; Russell DW
J Biol Chem; 1988 Sep; 263(26):13282-90. PubMed ID: 3417658
[TBL] [Abstract][Full Text] [Related]
19. A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia.
Koivisto UM; Kontula K
Hum Mutat; 1996; 8(4):326-32. PubMed ID: 8956037
[TBL] [Abstract][Full Text] [Related]
20. Different combinations of cysteine-rich repeats mediate binding of low density lipoprotein receptor to two different proteins.
Russell DW; Brown MS; Goldstein JL
J Biol Chem; 1989 Dec; 264(36):21682-8. PubMed ID: 2600087
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
