| Effects of Spermine Synthase Deficiency in Mesenchymal Stromal Cells Are Rescued by Upstream Inhibition of Ornithine Decarboxylase. | Effects of Spermine Synthase Deficiency in Mesenchymal Stromal Cells Are Rescued by Upstream Inhibition of Ornithine Decarboxylase.
Cressman A, Morales D, Zhang Z, Le B, Foley J, Murray-Stewart T, Genetos DC, Fierro FA., Free PMC Article | 03/14/2024 |
| Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome. | Whole-exome sequencing identifies a novel mutation in spermine synthase gene (SMS) associated with Snyder-Robinson Syndrome.
Qazi TJ, Wu Q, Aierken A, Lu D, Bukhari I, Hussain HMJ, Yang J, Mir A, Qing H., Free PMC Article | 11/21/2020 |
| Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression. | Spermine synthase and MYC cooperate to maintain colorectal cancer cell survival by repressing Bim expression.
Guo Y, Ye Q, Deng P, Cao Y, He D, Zhou Z, Wang C, Zaytseva YY, Schwartz CE, Lee EY, Evers BM, Morris AJ, Liu S, She QB., Free PMC Article | 09/5/2020 |
| Spermine synthase (SMS) localized together with myosin Va (MyoVa) in cytoplasmic vesicles of breast cancer MCF-7 and neuroblastoma SH-SY5Y cell lines, known to produce exosomes, supporting a role for MyoVa in SMS expression and targeting. | Myosin Va interacts with the exosomal protein spermine synthase.
Dolce LG, Silva-Junior RMP, Assis LHP, Nascimento AFZ, Araujo JS, Meschede IP, Espreafico EM, de Giuseppe PO, Murakami MT., Free PMC Article | 02/22/2020 |
| Missense mutations causing Snyder-Robinson Syndrome resulting in dysfunctional spermine synthase cause the destabilization of the protein. | Revealing the Effects of Missense Mutations Causing Snyder-Robinson Syndrome on the Stability and Dimerization of Spermine Synthase.
Peng Y, Norris J, Schwartz C, Alexov E., Free PMC Article | 10/22/2016 |
| Results show that p.Y328C, a missense mutation in SMS is responsible for the patients having a mild form of Snyder-Robinson syndrome. | A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndrome.
Zhang Z, Norris J, Kalscheuer V, Wood T, Wang L, Schwartz C, Alexov E, Van Esch H., Free PMC Article | 03/22/2014 |
| Studied human spermine synthase activity by engineered mutations. | Enhancing human spermine synthase activity by engineered mutations.
Zhang Z, Zheng Y, Petukh M, Pegg A, Ikeguchi Y, Alexov E., Free PMC Article | 11/2/2013 |
| 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. | A rational free energy-based approach to understanding and targeting disease-causing missense mutations.
Zhang Z, Witham S, Petukh M, Moroy G, Miteva M, Ikeguchi Y, Alexov E., Free PMC Article | 09/7/2013 |
| 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 | Spermine synthase overexpression in vivo does not increase susceptibility to DMBA/TPA skin carcinogenesis or Min-Apc intestinal tumorigenesis.
Welsh PA, Sass-Kuhn S, Prakashagowda C, McCloskey D, Feith D., Free PMC Article | 04/20/2013 |
| the mutability of spermine synthase | In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase.
Zhang Z, Norris J, Schwartz C, Alexov E., Free PMC Article | 09/24/2011 |
| Mutations in the spermine synthase have been shown to be responsible for an X-linked intellectual disability condition known as Snyder-Robinson syndrome. | Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).
Schwartz CE, Wang X, Stevenson RE, Pegg AE. | 05/21/2011 |
| each gene was associated with at least one main outcome: anxiety (SAT1, SMS), mood disorders (SAT1, SMOX), and suicide attempts (SAT1, OATL1). | Association of polyaminergic loci with anxiety, mood disorders, and attempted suicide.
Fiori LM, Wanner B, Jomphe V, Croteau J, Vitaro F, Tremblay RE, Bureau A, Turecki G., Free PMC Article | 04/30/2011 |
| the genetic and epigenetic factors examined in this study show little influence on the expression level of SMS in suicide completers. | Genetic and epigenetic influences on expression of spermine synthase and spermine oxidase in suicide completers.
Fiori LM, Turecki G. | 11/13/2010 |
| Data suggest that disruption of spermine synthase function may negatively affect regional brain volumes that subserve cognitive and motor abilities. | The impact of spermine synthase (SMS) mutations on brain morphology.
Kesler SR, Schwartz C, Stevenson RE, Reiss AL., Free PMC Article | 01/21/2010 |
| A missense mutation, p. V132G, in the X-linked SMS gene causes Snyder-Robinson syndrome. | A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
Becerra-Solano LE, Butler J, Castañeda-Cisneros G, McCloskey DE, Wang X, Pegg AE, Schwartz CE, Sánchez-Corona J, García-Ortiz JE., Free PMC Article | 01/21/2010 |
| 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. | 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, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR, Schwartz CE, Passos-Bueno MR, Sertié AL. | 01/21/2010 |