ArticleNature communications2017
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 102 citations in OpenAlex.
- An improved Sms p.Gly56Ser model of Snyder-Robinson syndrome reveals phenotypic parallels with clinical features.Disease models & mechanisms · 2026Article
- Metabolic alterations in Snyder-Robinson syndrome lymphoblasts are ameliorated by phenylbutyrate treatment.Molecular genetics and metabolism · 2026Article
- Polyamine Metabolism in Brain Health and Disease.Neuropharmacology and therapy · 2026Article
- A noncanonical polyamine from bacteria antagonizes host mitochondrial function.Nature communications · 2025Article
- Spermine synthase in Snyder-Robinson syndrome and cancer.Molecular biology reports · 2025Review
- The loss of the urea cycle and ornithine metabolism in different insect orders: An omics approach.Insect molecular biology · 2025Article
- Article
- Integrated Multi-Omics Analysis Reveals Key Regulators of Bovine Oocyte Maturation.International journal of molecular sciences · 2025Article
- Development and characterization of a Drosophila model of Snyder-Robinson syndrome.Methods in enzymology · 2025Article
- Polyamine metabolism related gene index prediction of prognosis and immunotherapy response in breast cancer.Frontiers in oncology · 2025Article
- Regulation of proteostasis by sleep through autophagy inLife science alliance · 2024Article
- Article
- Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder-Robinson syndrome.Disease models & mechanisms · 2024Article
- Reduction of spermine synthase enhances autophagy to suppress Tau accumulation.Cell death & disease · 2024Article
- The discovery of regional neurotoxicity-associated metabolic alterations induced by carbon quantum dots in brain of mice using a spatial metabolomics analysis.Particle and fibre toxicology · 2024Article
- Effects of Spermine Synthase Deficiency in Mesenchymal Stromal Cells Are Rescued by Upstream Inhibition of Ornithine Decarboxylase.International journal of molecular sciences · 2024Article
- Serum Metabolomic Alteration in Rats with Osteoarthritis Treated with Palm Tocotrienol-Rich Fraction Alone or in Combination with Glucosamine Sulphate.Life (Basel, Switzerland) · 2023Article
- Rebalancing polyamine levels to treat Snyder-Robinson syndrome.EMBO molecular medicine · 2023Article
- Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome.EMBO molecular medicine · 2023Article
- Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.Clinical genetics · 2023Article
Corrections and comments
- Erratum issued
Authors and funding
16 authors at 5 institutions in 3 countries.
Funding
Abstract
Polyamines are tightly regulated polycations that are essential for life. Loss-of-function mutations in spermine synthase (SMS), a polyamine biosynthesis enzyme, cause Snyder-Robinson syndrome (SRS), an X-linked intellectual disability syndrome; however, little is known about the neuropathogenesis of the disease. Here we show that loss of dSms in Drosophila recapitulates the pathological polyamine imbalance of SRS and causes survival defects and synaptic degeneration. SMS deficiency leads to excessive spermidine catabolism, which generates toxic metabolites that cause lysosomal defects and oxidative stress. Consequently, autophagy-lysosome flux and mitochondrial function are compromised in the Drosophila nervous system and SRS patient cells. Importantly, oxidative stress caused by loss of SMS is suppressed by genetically or pharmacologically enhanced antioxidant activity. Our findings uncover some of the mechanisms underlying the pathological consequences of abnormal polyamine metabolism in the nervous system and may provide potential therapeutic targets for treating SRS and other polyamine-associated neurological disorders.
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