Associated Papers
Development and characterization of a Drosophila model of Snyder-Robinson syndrome.
Tao X et al.
Methods in Enzymology, 2025
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
37702369 (PubMed )
Supplement: EMMM-15-e17833-s003.pdf
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
Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.
Li C et al.
Nature Communications, 2017
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine.
Gahl WA et al.
Molecular Genetics and Metabolism, 2016
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
Albert JS et al.
Orphanet Journal of Rare Diseases, 2015
Select a paper to view details