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Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.

Albert JS, Bhattacharyya N, Wolfe LA, Bone WP, Maduro V, Accardi J, Adams DR, Schwartz CE, Norris J, Wood T, Gafni RI, Collins MT, Tosi LL, Markello TC, Gahl WA, Boerkoel CF.

Orphanet J Rare Dis. 2015 Mar 7;10:27. doi: 10.1186/s13023-015-0235-8.


Protein sector analysis for the clustering of disease-associated mutations.

Guevara-Coto J, Schwartz CE, Wang L.

BMC Genomics. 2014;15 Suppl 11:S4. doi: 10.1186/1471-2164-15-S11-S4. Epub 2014 Dec 16.


Rational design of small-molecule stabilizers of spermine synthase dimer by virtual screening and free energy-based approach.

Zhang Z, Martiny V, Lagorce D, Ikeguchi Y, Alexov E, Miteva MA.

PLoS One. 2014 Oct 23;9(10):e110884. doi: 10.1371/journal.pone.0110884. eCollection 2014.


Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotype.

Peron A, Spaccini L, Norris J, Bova SM, Selicorni A, Weber G, Wood T, Schwartz CE, Mastrangelo M.

Am J Med Genet A. 2013 Sep;161A(9):2316-20. doi: 10.1002/ajmg.a.36116. Epub 2013 Jul 29. Erratum in: Am J Med Genet A. 2014 Apr;164A(4):1083.


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.

Hum Mol Genet. 2013 Sep 15;22(18):3789-97. doi: 10.1093/hmg/ddt229. Epub 2013 May 21.


Pleiotropic effects of methionine adenosyltransferases deregulation as determinants of liver cancer progression and prognosis.

Frau M, Feo F, Pascale RM.

J Hepatol. 2013 Oct;59(4):830-41. doi: 10.1016/j.jhep.2013.04.031. Epub 2013 May 7. Review.


Enhancing human spermine synthase activity by engineered mutations.

Zhang Z, Zheng Y, Petukh M, Pegg A, Ikeguchi Y, Alexov E.

PLoS Comput Biol. 2013;9(2):e1002924. doi: 10.1371/journal.pcbi.1002924. Epub 2013 Feb 28.


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.

J Am Med Inform Assoc. 2013 Jul-Aug;20(4):643-51. doi: 10.1136/amiajnl-2012-001505. Epub 2013 Feb 13.


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.

PLoS One. 2011;6(5):e20373. doi: 10.1371/journal.pone.0020373. Epub 2011 May 27.


Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).

Schwartz CE, Wang X, Stevenson RE, Pegg AE.

Methods Mol Biol. 2011;720:437-45. doi: 10.1007/978-1-61779-034-8_28.


Use of (Gyro) Gy and spermine synthase transgenic mice to study functions of spermine.

Wang X, Pegg AE.

Methods Mol Biol. 2011;720:159-70. doi: 10.1007/978-1-61779-034-8_9.


Global gene expression profiling of the polyamine system in suicide completers.

Fiori LM, Bureau A, Labbe A, Croteau J, Noël S, Mérette C, Turecki G.

Int J Neuropsychopharmacol. 2011 Jun;14(5):595-605. doi: 10.1017/S1461145710001574. Epub 2011 Jan 6.


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.

PLoS One. 2010 Nov 30;5(11):e15146. doi: 10.1371/journal.pone.0015146.


Cellular prion protein overexpression disturbs cellular homeostasis in SH-SY5Y neuroblastoma cells but does not alter p53 expression: a proteomic study.

Weiss E, Ramljak S, Asif AR, Ciesielczyk B, Schmitz M, Gawinecka J, Schulz-Schaeffer W, Behrens C, Zerr I.

Neuroscience. 2010 Sep 15;169(4):1640-50. doi: 10.1016/j.neuroscience.2010.06.013. Epub 2010 Jun 12.


Genetic and epigenetic influences on expression of spermine synthase and spermine oxidase in suicide completers.

Fiori LM, Turecki G.

Int J Neuropsychopharmacol. 2010 Jul;13(6):725-36. doi: 10.1017/S1461145709991167. Epub 2010 Jan 11.


Spermine synthase.

Pegg AE, Michael AJ.

Cell Mol Life Sci. 2010 Jan;67(1):113-21. doi: 10.1007/s00018-009-0165-5. Epub 2009 Oct 27. Review.


The impact of spermine synthase (SMS) mutations on brain morphology.

Kesler SR, Schwartz C, Stevenson RE, Reiss AL.

Neurogenetics. 2009 Oct;10(4):299-305. doi: 10.1007/s10048-009-0184-2. Epub 2009 Mar 7.


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.

Am J Med Genet A. 2009 Mar;149A(3):328-35. doi: 10.1002/ajmg.a.32641.


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.

J Med Genet. 2008 Aug;45(8):539-43. doi: 10.1136/jmg.2007.056713. Epub 2008 Jun 11.


Crystal structure of human spermine synthase: implications of substrate binding and catalytic mechanism.

Wu H, Min J, Zeng H, McCloskey DE, Ikeguchi Y, Loppnau P, Michael AJ, Pegg AE, Plotnikov AN.

J Biol Chem. 2008 Jun 6;283(23):16135-46. doi: 10.1074/jbc.M710323200. Epub 2008 Mar 26.

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