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Items: 1 to 20 of 24

1.

Functions of Polyamines in Mammals.

Pegg AE.

J Biol Chem. 2016 Jul 15;291(29):14904-12. doi: 10.1074/jbc.R116.731661.

PMID:
27268251
2.

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.

3.

N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

Abela L, Simmons L, Steindl K, Schmitt B, Mastrangelo M, Joset P, Papuc M, Sticht H, Baumer A, Crowther LM, Mathis D, Rauch A, Plecko B.

J Inherit Metab Dis. 2016 Jan;39(1):131-7. doi: 10.1007/s10545-015-9876-y.

PMID:
26174906
4.

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.

5.

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.

6.

The function of spermine.

Pegg AE.

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

7.

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
8.

Snyder-Robinson Syndrome.

Albert J, Schwartz CE, Boerkoel CF, Stevenson RE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2013 Jun 27.

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.

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.

11.

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.

12.

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.

13.

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
14.

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
15.

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
16.

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
17.

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.

18.

Spermine synthase.

Pegg AE, Michael AJ.

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

19.

Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.

du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF.

Am J Med Genet A. 2009 Nov;149A(11):2469-78. doi: 10.1002/ajmg.a.33071.

PMID:
19842190
20.

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.

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