SMS Antibody

1. Missense mutations causing Snyder-Robinson Syndrome resulting in dysfunctional spermine synthase cause the destabilization of the protein. PMID: 26761001
2. Results show that p.Y328C, a missense mutation in SMS is responsible for the patients having a mild form of Snyder-Robinson syndrome. PMID: 23696453
3. Studied human spermine synthase activity by engineered mutations. PMID: 23468611
4. This observation is used to demonstrate, computationally and experimentally, that a particular condition, Snyder-Robinson syndrome caused by the G56S spermine synthase mutation, might be ameliorated by small molecule binding. PMID: 23408511
5. spermine synthase activity and the resulting elevation of the spermine:spermidine ratio does not alter susceptibility to tumor development initiated by c-Ha-Ras mutation or Apc loss PMID: 22258329
6. the mutability of spermine synthase PMID: 21647366
7. Mutations in the spermine synthase have been shown to be responsible for an X-linked intellectual disability condition known as Snyder-Robinson syndrome. PMID: 21318891
8. each gene was associated with at least one main outcome: anxiety (SAT1, SMS), mood disorders (SAT1, SMOX), and suicide attempts (SAT1, OATL1). PMID: 21152090
9. the genetic and epigenetic factors examined in this study show little influence on the expression level of SMS in suicide completers. PMID: 20059804
10. Study reports the identification of a novel mutation at a highly conserved residue within the N-terminal region of spermine synthase (SMS) in a second family with Snyder-Robinson X-linked mental retardation syndrome. PMID: 18550699
11. A missense mutation, p. V132G, in the X-linked SMS gene causes Snyder-Robinson syndrome. PMID: 19206178
12. Data suggest that disruption of spermine synthase function may negatively affect regional brain volumes that subserve cognitive and motor abilities. PMID: 19277733

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HGNC: 11123

OMIM: 300105

KEGG: hsa:6611

STRING: 9606.ENSP00000385746

UniGene: Hs.724874