Associated Papers
Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.
VanSickle EA et al.
American Journal of Medical Genetics. Part A, 2025
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
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
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Ibarluzea N et al.
Genes, 2020
31906484 (PubMed )
Supplement: genes-11-00051-s001.zip › Genes-672756-Ibarluzea-Table_S1.pdf
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Li C et al.
Nature Communications, 2017
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
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