ArticleNature genetics2014
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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Who cites it
67 citing papers in PubMed, 107 citations in OpenAlex.
- Targeting Phosphatidylserine Synthesis for Tumor Cell Suppression in Esophageal Squamous Cell Carcinoma and Glioblastoma.International journal of molecular sciences · 2026Article
- Pss knockdown in the midgut causes growth retardation in Drosophila similar to that in human LMHD.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- Multi-omics identifies lipid accumulation in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome cell lines: a case-control study.Journal of translational medicine · 2026Article
- PTDSS1 serves as a prognostic biomarker of macrophage infiltration in pan-cancer and promotes hepatocellular carcinoma malignant phenotypes.Cancer cell international · 2025Article
- Homeostatic response of phospholipid pathways to PCYT2 deficiency and impaired de Novo synthesis of phosphatidylethanolamine.Scientific reports · 2025Article
- Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.Clinical genetics · 2025Review
- The Inner Nuclear Membrane Has a Unique Lipid Signature.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025Review
- Mitochondrial dysfunction and lipid dysregulation in yeast lacking phosphatidylserine.Molecular biology of the cell · 2025Article
- Clinical and Oral Manifestations in a Patient with Lenz-Majewski Syndrome: A Rare Case Report.BMC oral health · 2025Article
- A Japanese Case of Lenz-Majewski Syndrome With a Novel PTDSS1 Variant.Molecular genetics & genomic medicine · 2025Article
- Molecular insights into human phosphatidylserine synthase 2 and its regulation of SREBP pathways.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders.Calcified tissue international · 2025Article
- Structural basis for catalytic mechanism of human phosphatidylserine synthase 1.Cell discovery · 2025Article
- Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.Journal of inherited metabolic disease · 2025Review
- Clinical and genetic characterization of Lenz-Majewski syndrome with a PTDSS1 variant: a case report and literature review.Frontiers in pediatrics · 2025Article
- Genome-Wide Association Study of Insertions and Deletions Identified Novel Loci Associated with Milk Production Traits in Dairy Cattle.Animals : an open access journal from MDPI · 2024Article
- The dynamic regulatory network of phosphatidic acid metabolism: a spotlight on substrate cycling between phosphatidic acid and diacylglycerol.Biochemical Society transactions · 2024Review
- Glycerophospholipid remodeling is critical for orthoflavivirus infection.Nature communications · 2024Article
- Biochemistry and Diseases Related to the Interconversion of Phosphatidylcholine, Phosphatidylethanolamine, and Phosphatidylserine.International journal of molecular sciences · 2024Review
- Article
7 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 11 institutions in 8 countries.
Funding
Abstract
Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two enzymes involved in the production of phosphatidylserine. Phosphatidylserine synthesis was increased in intact fibroblasts from affected individuals, and end-product inhibition of PSS1 by phosphatidylserine was markedly reduced. Therefore, these mutations cause a gain-of-function effect associated with regulatory dysfunction of PSS1. We have identified LMS as the first human disease, to our knowledge, caused by disrupted phosphatidylserine metabolism. Our results point to an unexplored link between phosphatidylserine synthesis and bone metabolism.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.