ArticleNature genetics2023
Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.
Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- Efficacy and Safety of SGLT2 Inhibitors in Patients With Genetic Lipodystrophy: A Real-Life Experience From a National Reference Network.Diabetes, obesity & metabolism · 2026Article
- The Phospholipase AJournal of lipid and atherosclerosis · 2026Review
- T-betThe FEBS journal · 2026Article
- Centriolar Protein POC5 Regulates Human Adipogenesis and Cellular Senescence: Insights From a Novel Metabolic Ciliopathy.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- Case Report: Post-mortem analysis of long-term inflammation after mild COVID-19.Frontiers in immunology · 2026Article
- A combined transcriptomic, epigenetic, and functional analysis identifies novel biomarkers in breast cancer.Hereditas · 2025Article
- Recent Progress inInternational journal of molecular sciences · 2025Review
- Gain of Function NOTCH3 Variants Cause Familial Partial Lipodystrophy Due to Activation of Senescence Pathways.Diabetes · 2025Article
- Involvement of a battery of investigated genes in lipid droplet pathophysiology and associated comorbidities.Adipocyte · 2024Review
- Integration of ATAC-Seq and RNA-Seq Reveals VDR-SELENBP1 Axis Promotes Adipogenesis of Porcine Intramuscular Preadipocytes.International journal of molecular sciences · 2024Article
- Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.International journal of molecular sciences · 2024Review
- ADH1B, the adipocyte-enriched alcohol dehydrogenase, plays an essential, cell-autonomous role in human adipogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Phospholipid biosynthetic pathways and lipodystrophies: a novel syndrome due to PLAAT3 deficiency.Nature reviews. Endocrinology · 2024Article
- Identification of genomic characteristics and selective signals in Guizhou black goat.BMC genomics · 2024Article
Corrections and comments
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Authors and funding
36 authors at 13 institutions in 5 countries.
Funding
Abstract
Phospholipase A/acyltransferase 3 (PLAAT3) is a phospholipid-modifying enzyme predominantly expressed in neural and white adipose tissue (WAT). It is a potential drug target for metabolic syndrome, as Plaat3 deficiency in mice protects against diet-induced obesity. We identified seven patients from four unrelated consanguineous families, with homozygous loss-of-function variants in PLAAT3, who presented with a lipodystrophy syndrome with loss of fat varying from partial to generalized and associated with metabolic complications, as well as variable neurological features including demyelinating neuropathy and intellectual disability. Multi-omics analysis of mouse Plaat3
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