Associated Papers
Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.
Ferch M et al.
European Journal of Preventive Cardiology, 2025
Human sulfotransferase SULT2B1 physiological role and the impact of genetic polymorphism on enzyme activity and pathological conditions.
Alherz FA
Frontiers in Genetics, 2024
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.
Björnsson E et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021
PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.
Sundararaman SS et al.
Biomedicines, 2021
Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients.
Hori M et al.
Atherosclerosis, 2019
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.
Chorba JS et al.
The Journal of Biological Chemistry, 2018
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.
Yamaguchi-Kabata Y et al.
Journal of Human Genetics, 2018
Mutational screening in the LDLR gene among patients presenting familial hypercholesterolemia in the Southeast of Brazil.
Molfetta GA et al.
Genetics and Molecular Research : Gmr, 2017
Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.
Calandra S et al.
Current Opinion in Lipidology, 2017
Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.
Le QT et al.
The Journal of Biological Chemistry, 2015
PCSK9 gene mutations and low-density lipoprotein cholesterol.
Wu NQ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
Characterization of novel mutations in the catalytic domain of the PCSK9 gene.
Cameron J et al.
Journal of Internal Medicine, 2008
Common mutations of the lipoprotein lipase gene and their clinical significance.
Gehrisch S
Current Atherosclerosis Reports, 1999