Associated Papers
Inactivation of spermine synthase in mice causes osteopenia due to reduced osteoblast activity.
Yorgan TA et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome.
Stewart TM et al.
Embo Molecular Medicine, 2023
37702369 (PubMed )
Supplement: EMMM-15-e17833-s002.zip › Figure_3 › 3A › cell_viability_numerical_data_3A.xlsx › numerical_data_viability
Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome: mechanism of action and therapeutic potential.
Stewart TRM et al.
Biorxiv : the Preprint Server for Biology, 2023
Snyder-Robinson syndrome: differential diagnosis of osteogenesis imperfecta.
Valera Ribera C et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022
Novel Hemizygous Missense Variant of Spermine Synthase (SMS) Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.
Mouskou S et al.
Molecular Syndromology, 2021
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Li C et al.
Nature Communications, 2017
Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.
Peng Y et al.
International Journal of Molecular Sciences, 2016
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