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Items: 1 to 20 of 96

1.

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.

PMID:
21318891
2.

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs HA, Martinez F, Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE.

Eur J Hum Genet. 2003 Dec;11(12):937-44.

3.

Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry.

Sowell J, Norris J, Jones K, Schwartz C, Wood T.

Clin Chim Acta. 2011 Mar 18;412(7-8):655-60. doi: 10.1016/j.cca.2010.12.037.

PMID:
21219895
4.

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.

PMID:
18550699
5.

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.

6.

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. Erratum in: Am J Med Genet A. 2014 Apr;164A(4):1083.

PMID:
23897707
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.

8.

The function of spermine.

Pegg AE.

IUBMB Life. 2014 Jan;66(1):8-18. doi: 10.1002/iub.1237. Review.

9.

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.

10.

Spermine synthase.

Pegg AE, Michael AJ.

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

11.

Spermine deficiency in Gy mice caused by deletion of the spermine synthase gene.

Lorenz B, Francis F, Gempel K, Böddrich A, Josten M, Schmahl W, Schmidt J, Lehrach H, Meitinger T, Strom TM.

Hum Mol Genet. 1998 Mar;7(3):541-7.

12.

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.

PMID:
21318872
13.

Spermine deficiency resulting from targeted disruption of the spermine synthase gene in embryonic stem cells leads to enhanced sensitivity to antiproliferative drugs.

Korhonen VP, Niiranen K, Halmekytö M, Pietilä M, Diegelman P, Parkkinen JJ, Eloranta T, Porter CW, Alhonen L, Jänne J.

Mol Pharmacol. 2001 Feb;59(2):231-8.

14.

Spermine synthase activity affects the content of decarboxylated S-adenosylmethionine.

Pegg AE, Wang X, Schwartz CE, McCloskey DE.

Biochem J. 2011 Jan 1;433(1):139-44. doi: 10.1042/BJ20101228.

PMID:
20950271
15.

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.

16.

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.

Int J Mol Sci. 2016 Jan 8;17(1). pii: E77. doi: 10.3390/ijms17010077.

17.

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.

18.

Aminopropyltransferases: function, structure and genetics.

Ikeguchi Y, Bewley MC, Pegg AE.

J Biochem. 2006 Jan;139(1):1-9. Review.

PMID:
16428313
19.

Partial deletion of both the spermine synthase gene and the Pex gene in the X-linked hypophosphatemic, gyro (Gy) mouse.

Meyer RA Jr, Henley CM, Meyer MH, Morgan PL, McDonald AG, Mills C, Price DK.

Genomics. 1998 Mar 15;48(3):289-95.

PMID:
9545633
20.
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