Disease-related PSS1 mutant impedes the formation and function of osteoclasts.
Glycerophospholipids
Lenz-Majewski syndrome
Lipidomics
Phospholipids
Phospholipids/Biosynthesis
Phospholipids/Metabolism
osteoclasts
phosphatidylserine
Journal
Journal of lipid research
ISSN: 1539-7262
Titre abrégé: J Lipid Res
Pays: United States
ID NLM: 0376606
Informations de publication
Date de publication:
Nov 2023
Nov 2023
Historique:
received:
06
02
2023
revised:
01
09
2023
accepted:
04
09
2023
medline:
20
11
2023
pubmed:
16
9
2023
entrez:
15
9
2023
Statut:
ppublish
Résumé
Phosphatidylserine (PS) is an acidic phospholipid that is involved in various cellular events. Heterologous dominant mutations have been identified in the gene encoding PS synthase 1 (PSS1) in patients with a congenital disease called Lenz-Majewski syndrome (LMS). Patients with LMS show various symptoms, including craniofacial/distal-limb bone dysplasia and progressive hyperostosis. The LMS-causing gain-of-function mutants of PSS1 (PSS1
Identifiants
pubmed: 37714410
pii: S0022-2275(23)00116-5
doi: 10.1016/j.jlr.2023.100443
pmc: PMC10641532
pii:
doi:
Substances chimiques
Phospholipids
0
phospholipid serine base exchange enzyme
EC 2.7.8.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
100443Informations de copyright
Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.