Associated Papers
Structural Insights into the Mechanisms Underlying Polyaminopathies.
Wu B et al.
International Journal of Molecular Sciences, 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
Molecular mechanisms of disease-causing missense mutations.
Stefl S et al.
Journal of Molecular Biology, 2013
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
Zhang Z et al.
Human Molecular Genetics, 2013
Enhancing human spermine synthase activity by engineered mutations.
Zhang Z et al.
Plos Computational Biology, 2013
Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).
Schwartz CE et al.
Methods in Molecular Biology (clifton, N.j.), 2011
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