ReviewThe Journal of biological chemistry2020
Genetic diseases of the Kennedy pathways for membrane synthesis.
Review in The Journal of biological chemistry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
What it found
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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.
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Who cites it
40 citing papers in PubMed, 66 citations in OpenAlex.
- Preclinical efficacy of a gene therapy forMolecular therapy. Advances · 2026Article
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- Chronic choline restriction remodels hepatic lipid metabolism and drives insulin resistance through a CD36-ETNPPL regulatory axis.Molecular metabolism · 2026Article
- Targeting the microglial phosphatidylethanolamine synthesis pathway promotes GABARAP-associated phagocytosis and Aβ clearance in Alzheimer's disease.Signal transduction and targeted therapy · 2026Article
- Appropriate Dietary Levels of Soybean Lecithin and Krill Oil Phospholipids Promote Growth, Antioxidant Capacity, and Lipid Metabolism While Reducing Lipid Deposition in Atlantic Salmon (Animals : an open access journal from MDPI · 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
- Obesity-driven phosphatidylethanolamine dysregulation impairs neuroimmune crosstalk and accelerates Alzheimer's pathogenesis.Molecular neurodegeneration · 2026Article
- Psychological symptoms as the initial manifestation of choline kinase β-related muscular dystrophy.Journal of translational internal medicine · 2026Article
- A CHKA-PML autophagy checkpoint enables tumors to evade glutamine starvation.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Article
- Multi-omics integrated approach reveals host-microbiome interactions in the adaptive mechanisms of weaning piglets.Journal of animal science and technology · 2026Article
- Lipid metabolism dysregulation in late-life depression: peripheral metabolic disturbance, central lipid alterations, and dietary modulation.Frontiers in nutrition · 2026Review
- Homeostatic response of phospholipid pathways to PCYT2 deficiency and impaired de Novo synthesis of phosphatidylethanolamine.Scientific reports · 2025Article
- Alternative splicing events of three rare variants in CHKB gene causing megaconial congenital dystrophy.Neurogenetics · 2025Article
- Phospholipid biogenesis maintains neuronal integrity during aging and axon regeneration.Genetics · 2025Article
- Insights from selenoprotein I mouse models for understanding biological roles of this enzyme.Archives of biochemistry and biophysics · 2025Review
- Lipidomic Profiling Reveals HSD17B13 Deficiency-Associated Dysregulated Hepatic Phospholipid Metabolism in Aged Mice.Metabolites · 2025Article
- Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India.Annals of Indian Academy of Neurology · 2025Article
- Lipid metabolism, remodelling and intercellular transfer in the CNS.Nature reviews. Neuroscience · 2025Review
- HCV NS3/4A protease relocalizes CCTα to viral replication sites, enhancing phosphatidylcholine synthesis and viral replication.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
The two branches of the Kennedy pathways (CDP-choline and CDP-ethanolamine) are the predominant pathways responsible for the synthesis of the most abundant phospholipids, phosphatidylcholine and phosphatidylethanolamine, respectively, in mammalian membranes. Recently, hereditary diseases associated with single gene mutations in the Kennedy pathways have been identified. Interestingly, genetic diseases within the same pathway vary greatly, ranging from muscular dystrophy to spastic paraplegia to a childhood blinding disorder to bone deformations. Indeed, different point mutations in the same gene (PCYT1; CCTα) result in at least three distinct diseases. In this review, we will summarize and review the genetic diseases associated with mutations in genes of the Kennedy pathway for phospholipid synthesis. These single-gene disorders provide insight, indeed direct genotype-phenotype relationships, into the biological functions of specific enzymes of the Kennedy pathway. We discuss potential mechanisms of how mutations within the same pathway can cause disparate disease.
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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 Socratic graph.