Detalles de la búsqueda
1.
Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay.
J Lipid Res
; 65(1): 100482, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38052254
2.
Flavonoids regulate LDLR through different mechanisms tied to their specific structures.
J Lipid Res
; 65(5): 100539, 2024 Mar 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-38556050
3.
Cascade screening for familial hypercholesterolemia should be organized at a national level.
Curr Opin Lipidol
; 33(4): 231-236, 2022 08 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-35942821
4.
Bone morphogenetic protein 1 cleaves the linker region between ligand-binding repeats 4 and 5 of the LDL receptor and makes the LDL receptor non-functional.
Hum Mol Genet
; 29(8): 1229-1238, 2020 05 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-31600776
5.
Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity.
Hum Mol Genet
; 28(18): 3043-3052, 2019 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31131398
6.
Strategies to prevent cleavage of the linker region between ligand-binding repeats 4 and 5 of the LDL receptor.
Hum Mol Genet
; 28(22): 3734-3741, 2019 11 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-31332430
7.
Lysosomal acid lipase does not have a propeptide and should not be considered being a proprotein.
Proteins
; 88(3): 440-448, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31587363
8.
Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia: A Register Study From Norway.
Stroke
; 50(1): 172-174, 2019 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-30580708
9.
Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion.
Hum Mol Genet
; 26(9): 1634-1642, 2017 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-28334946
10.
Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene.
Mol Genet Metab
; 123(2): 169-176, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29196158
11.
Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death.
Forensic Sci Med Pathol
; 14(3): 367-371, 2018 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-29881912
12.
Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.
Hum Mol Genet
; 24(20): 5836-44, 2015 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-26220972
13.
Excess Aortic Pathology Risk in Patients with Genetically Verified Familial Hypercholesterolaemia: A Prospective Norwegian Registry Study.
Eur J Vasc Endovasc Surg
; 61(4): 712-713, 2021 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-33485759
14.
PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum.
Biochem J
; 457(1): 99-105, 2014 Jan 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24144304
15.
Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification.
Hum Mol Genet
; 21(6): 1402-9, 2012 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22156580
16.
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
BMC Med Genet
; 15: 31, 2014 Mar 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-24606995
17.
Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects.
Europace
; 16(4): 563-71, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24058181
18.
Molecular genetic testing and measurement of levels of GPIHBP1 autoantibodies in patients with severe hypertriglyceridemia: The importance of identifying the underlying cause of hypertriglyceridemia.
J Clin Lipidol
; 18(1): e80-e89, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-37981531
19.
PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment.
J Lipid Res
; 54(6): 1560-1566, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23509406
20.
Increased amount of interstitial fibrosis predicts ventricular arrhythmias, and is associated with reduced myocardial septal function in patients with obstructive hypertrophic cardiomyopathy.
Europace
; 15(9): 1319-27, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23426552