ArticleProceedings of the National Academy of Sciences of the United States of America2014
Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
90 citing papers in PubMed, 1 synthesis or guideline pooled it, 162 citations in OpenAlex.
- Clinical Spectrum ofCells · 2023Pooled it
- Efficacy and Safety of Obeticholic Acid for Treating Hepatic Steatosis in Patients With Familial Partial Lipodystrophy.The Journal of clinical endocrinology and metabolism · 2025Trial
- Oral Glucose Mobilizes Triglyceride Stores From the Human Intestine.Cellular and molecular gastroenterology and hepatology · 2019Trial
- Biosynthesis of Phosphatidylethanolamine and Phosphatidylcholine via the Kennedy Pathway in Cancer and Other Pathological Conditions.International journal of molecular sciences · 2026Review
- A pcyt-1 allelic series reveals in vivo consequences of reduced phosphatidylcholine synthesis in C. elegans.G3 (Bethesda, Md.) · 2026Article
- Clinical and Genetic Insights into Congenital Generalized Lipodystrophy Type 4: A Case Report.Molecular syndromology · 2026Article
- Reduction in Hepatic Phosphatidylcholine Biosynthesis Promotes MASH Through Copper Deficiency.bioRxiv : the preprint server for biology · 2026Article
- AbioRxiv : the preprint server for biology · 2026Article
- Driver or passenger? A new assessment of genes in the schizophrenia-associated 3q29 deletion locus for contribution to neurodevelopmental disorders.Journal of neurodevelopmental disorders · 2026Review
- Emerging complexities of phospholipid metabolism in adipose tissue.Molecules and cells · 2026Review
- A manually curated gene-phenotype catalogue for progeroid syndromes and premature aging.Aging · 2026Article
- Familial Generalized and Partial Lipodystrophies Due to Rare Biallelic Variants inInternational journal of molecular sciences · 2026Article
- Coenzyme Q10 Supplementation Modulates Hepatic Lipidomic Alterations and Attenuates Metabolic Dysfunction-Associated Steatohepatitis in Mice.Nutrients · 2026Article
- Novel Homozygous Variants in CIDEC and WRN in a Young Female with Lipodystrophy and Thyroid Cancer.International journal of molecular sciences · 2026Article
- Ratio-Driven Lipoprotein Mapping Refines Genetic Pathways of Cardiometabolic Risk.Research square · 2026Article
- Essential Biology of Lipid Droplets.Annual review of biochemistry · 2025Review
- Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.Journal of inherited metabolic disease · 2025Review
- Phosphatidylcholine Cytidine Transferase α (CCTα) Affects LD Formation Through Fusion and Lipophagy in Bovine Mammary Epithelial Cells.International journal of molecular sciences · 2025Article
- Selective Labeling of Phosphatidylcholine to Track Their Translocation Between Organelles in Living Cells.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Cellular and organismal function of choline metabolism.Nature metabolism · 2025Review
30 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
19 authors at 10 institutions in 2 countries.
Funding
Abstract
Phosphatidylcholine (PC) is the major glycerophospholipid in eukaryotic cells and is an essential component in all cellular membranes. The biochemistry of de novo PC synthesis by the Kennedy pathway is well established, but less is known about the physiological functions of PC. We identified two unrelated patients with defects in the Kennedy pathway due to biallellic loss-of-function mutations in phosphate cytidylyltransferase 1 alpha (PCYT1A), the rate-limiting enzyme in this pathway. The mutations lead to a marked reduction in PCYT1A expression and PC synthesis. The phenotypic consequences include some features, such as severe fatty liver and low HDL cholesterol levels, that are predicted by the results of previously reported liver-specific deletion of murine Pcyt1a. Both patients also had lipodystrophy, severe insulin resistance, and diabetes, providing evidence for an additional and essential role for PCYT1A-generated PC in the normal function of white adipose tissue and insulin action.
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Registered trials
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.