Associated Papers
Structural Insights into the Mechanisms Underlying Polyaminopathies.
Wu B et al.
International Journal of Molecular Sciences, 2024
Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel SMS gene variant.
Leung M et al.
Rare (amsterdam, Netherlands), 2024
Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome.
Stewart TM et al.
Embo Molecular Medicine, 2023
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
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Li C et al.
Nature Communications, 2017
Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).
Schwartz CE et al.
Methods in Molecular Biology (clifton, N.j.), 2011
The impact of spermine synthase (SMS) mutations on brain morphology.
Kesler SR et al.
Neurogenetics, 2009
X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
Cason AL et al.
European Journal of Human Genetics : Ejhg, 2003
Select a paper to view details