Familial hypercholesterolemia with special focus on Japan.
ABCG5/8
Compactin
Familial Hypercholesterolemia
LDL- receptor
PCSK9
Journal
Clinica chimica acta; international journal of clinical chemistry
ISSN: 1873-3492
Titre abrégé: Clin Chim Acta
Pays: Netherlands
ID NLM: 1302422
Informations de publication
Date de publication:
15 Mar 2024
15 Mar 2024
Historique:
received:
23
01
2024
revised:
21
02
2024
accepted:
22
02
2024
medline:
18
3
2024
pubmed:
29
2
2024
entrez:
28
2
2024
Statut:
ppublish
Résumé
Familial hypercholesterolemia (FH) is an inherited disorder characterized by increased low-density lipoprotein LDL) cholesterol and atherosclerotic cardiovascular disease. Although initial genetic analysis linked FH to LDL receptor mutations, subsequent work demonstrated that a gain-of-function mutation in the proprotein convertase subtilisin/kexin type 9 (PCSK9), which causes LDL-R degradation, was shown to be the cause of FH. In this review, we describe the history of research on FH, its clinical phenotyping and genotyping and advances in treatment with special focus on Japan.
Identifiants
pubmed: 38417778
pii: S0009-8981(24)00088-3
doi: 10.1016/j.cca.2024.117847
pii:
doi:
Substances chimiques
PCSK9 protein, human
EC 3.4.21.-
Proprotein Convertase 9
EC 3.4.21.-
Serine Endopeptidases
EC 3.4.21.-
Proprotein Convertases
EC 3.4.21.-
Receptors, LDL
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
117847Informations de copyright
Copyright © 2024 Elsevier B.V. All rights reserved.