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Items: 1 to 20 of 142

1.

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.

PMID:
18550699
2.

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.

3.

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.

PMID:
23897707
4.

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.

5.

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
6.

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.

7.

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.

8.

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. Epub 2011 Jan 8.

PMID:
21219895
9.

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.

10.

Computational analysis of missense mutations causing Snyder-Robinson syndrome.

Zhang Z, Teng S, Wang L, Schwartz CE, Alexov E.

Hum Mutat. 2010 Sep;31(9):1043-9. doi: 10.1002/humu.21310.

11.

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.

12.

A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.

Troester MM, Trachtenberg T, Narayanan V.

J Child Neurol. 2007 Jun;22(6):744-8.

PMID:
17641262
13.

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
14.

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.

15.

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.

16.

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.

17.

X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.

Gedeon AK, Nelson J, Gécz J, Mulley JC.

Am J Med Genet A. 2003 Aug 1;120A(4):509-17.

PMID:
12884430
18.

Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome.

Budny B, Badura-Stronka M, Materna-Kiryluk A, Tzschach A, Raynaud M, Latos-Bielenska A, Ropers HH.

Clin Genet. 2010 Jun;77(6):541-51. doi: 10.1111/j.1399-0004.2010.01429.x. Epub 2010 Apr 19.

PMID:
20412111
19.

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.

20.

Börjeson-Forssman-Lehmann Syndrome due to a novel plant homeodomain zinc finger mutation in the PHF6 gene.

Mangelsdorf M, Chevrier E, Mustonen A, Picketts DJ.

J Child Neurol. 2009 May;24(5):610-4. doi: 10.1177/0883073808327830. Epub 2009 Mar 4.

PMID:
19264739
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