| http://purl.uniprot.org/citations/37714410 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37714410 | http://www.w3.org/2000/01/rdf-schema#comment | "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 (PSS1LMS) have been shown to synthesize PS without control, but why the uncontrolled synthesis would lead to LMS is unknown. Here we investigated the effect of PSS1LMS on osteoclasts (OCs) to elucidate the causative mechanism of LMS. PSS1LMS did not affect the expression of OC-related genes but inhibited the formation, multinucleation, and activity of OCs. Especially, OCs expressing PSS1LMS showed abnormal patterns and dynamics of actin podosome clusters, which have roles in OC migration and fusion. PSS1LMS did not affect the level of PS but changed the acyl chain compositions of PS and phosphatidylethanolamine, and decreased the level of phosphatidylinositol. The introduction of a catalytically inactive mutation into PSSLMS canceled the changes in phospholipids and the phenotypes observed in OCs expressing PSS1LMS. A gain-of-function mutant of PSS2 (PSS2 R97K) also impaired OC formation and caused changes in phospholipid composition similar to the changes caused by PSS1LMS. Our results suggest that uncontrolled PS synthesis by PSS1LMS causes changes in the quantity or fatty acid composition of certain phospholipid classes, impairing OC formation and function, which might be a cause of osteosclerosis in patients with LMS."xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jlr.2023.100443"xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/author | "Arai H."xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/author | "Aoki J."xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/author | "Ishino Y."xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/author | "Sawada K."xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/author | "Iwata T."xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/author | "Shimanaka Y."xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/author | "Kono N."xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/author | "Sugahara S."xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/name | "J Lipid Res"xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/pages | "100443"xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/title | "Disease-related PSS1 mutant impedes the formation and function of osteoclasts."xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://purl.uniprot.org/core/volume | "64"xsd:string |
| http://purl.uniprot.org/citations/37714410 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/37714410 |
| http://purl.uniprot.org/citations/37714410 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/37714410 |
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| http://purl.uniprot.org/uniprot/#_P48651-mappedCitation-37714410 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37714410 |
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| http://purl.uniprot.org/uniprot/P48651 | http://purl.uniprot.org/core/mappedCitation | http://purl.uniprot.org/citations/37714410 |
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