Associated Papers
Loss of arginase 2 disrupts striatum-specific polyamine homeostasis.
Nalepa M et al.
The Febs Journal, 2026
Spermine synthase in Snyder-Robinson syndrome and cancer.
Yerlikaya A
Molecular Biology Reports, 2025
Strategies for in Silico Drug Discovery to Modulate Macromolecular Interactions Altered by Mutations.
Poudel P et al.
Frontiers in Bioscience (landmark Edition), 2025
Gene replacement therapy to restore polyamine metabolism in a Snyder-Robinson syndrome mouse model.
Akinyele O et al.
Methods in Enzymology, 2025
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
Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a mouse model of Snyder-Robinson syndrome.
Akinyele O et al.
Disease Models & Mechanisms, 2024
Difluoromethylornithine rebalances aberrant polyamine ratios in Snyder-Robinson syndrome.
Stewart TM et al.
Embo Molecular Medicine, 2023
Rebalancing polyamine levels to treat Snyder-Robinson syndrome.
Gilmour SK
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
Impaired polyamine metabolism causes behavioral and neuroanatomical defects in a novel mouse model of Snyder-Robinson Syndrome.
Akinyele O et al.
Biorxiv : the Preprint Server for Biology, 2023
Maternal mosaicism for a missense variant in the SMS gene that causes Snyder-Robinson syndrome.
Marhabaie M et al.
Cold Spring Harbor Molecular Case Studies, 2021
Structural Perspective on Revealing and Altering Molecular Functions of Genetic Variants Linked with Diseases.
Peng Y et al.
International Journal of Molecular Sciences, 2019
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
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
A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
Becerra-Solano LE et al.
American Journal of Medical Genetics. Part A, 2009
New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
de Alencastro G et al.
Journal of Medical Genetics, 2008
A rational free energy-based approach to understanding and targeting disease-causing missense mutations.
Zhang Z et al.
Journal of the American Medical Informatics Association : Jamia, 0