Molecular biology of PCSK9: its role in LDL metabolism

JD Horton, JC Cohen, HH Hobbs - Trends in biochemical sciences, 2007 - cell.com
Proprotein convertase subtilisin-like kexin type 9 (PCSK9) is a newly discovered serine
protease that destroys low density lipoprotein (LDL) receptors in liver and thereby controls …

Genetic heterogeneity of autosomal dominant hypercholesterolemia

M Varret, M Abifadel, JP Rabès, C Boileau - Clinical genetics, 2008 - Wiley Online Library
Autosomal dominant hypercholesterolemia (ADH) is characterized by isolated elevation of
plasmatic low‐density lipoprotein cholesterol associated with high risk of premature …

Self-association of human PCSK9 correlates with its LDLR-degrading activity

D Fan, PG Yancey, S Qiu, L Ding, EJ Weeber… - Biochemistry, 2008 - ACS Publications
Genetic studies have demonstrated an important role for proprotein convertase
subtilisin/kexin type 9 (PCSK9) as a determinant of plasma cholesterol levels. However, the …

Dyslipidemia in Mexico, a call for action

B Rivas-Gomez, P Almeda-Valdés… - Revista de …, 2018 - medigraphic.com
The purpose of this manuscript is to highlight the peculiarities of the Mexican population
regarding the clinical expression, genetics, and treatment of lipid disorders. Furthermore, it is …

Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries

RD Santos, M Bourbon, R Alonso, A Cuevas… - Journal of clinical …, 2017 - Elsevier
Background There is little information about familial hypercholesterolemia (FH)
epidemiology and care in Ibero-American countries. The Ibero-American FH network aims at …

The N342S MYLIP polymorphism is associated with high total cholesterol and increased LDL receptor degradation in humans

D Weissglas-Volkov, AC Calkin… - The Journal of …, 2011 - Am Soc Clin Investig
Atherosclerotic cardiovascular disease (ASCVD) affects more than 1 in 3 American adults.
Hypercholesterolemia is a major treatable risk factor for ASCVD, yet many individuals fail to …

Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort

Z Ahmad, B Adams-Huet, C Chen… - Circulation: cardiovascular …, 2012 - Am Heart Assoc
Background—Autosomal dominant hypercholesterolemia (ADH), characterized by elevated
plasma levels of low-density lipoprotein (LDL)-cholesterol, is caused by variants in at least 3 …

The panorama of familial hypercholesterolemia in Latin America: a systematic review [S]

R Mehta, R Zubiran, AJ Martagon… - Journal of lipid …, 2016 - ASBMB
The burden caused by familial hypercholesterolemia (FH) varies among countries and
ethnic groups. The prevalence and characteristics of FH in Latin American (LA) countries is …

Genetic spectrum of familial hypercholesterolaemia in the malaysian community: Identification of pathogenic gene variants using targeted next-generation sequencing

AZ Razman, YA Chua, NA Mohd Kasim… - International Journal of …, 2022 - mdpi.com
Familial hypercholesterolaemia (FH) is caused by mutations in lipid metabolism genes,
predominantly in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB) …

LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population

KC Yang, YN Su, JY Shew, KY Yang, WK Tseng… - Journal of the Formosan …, 2007 - Elsevier
BACKGROUND/PURPOSE: Autosomal dominant hypercholesterolemia (ADH) is an
autosomal dominant inherited disease characterized by an increase in low-density …