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Volumn 22, Issue 18, 2013, Pages 3789-3797

A Y328C missense mutation in spermine synthase causes a mild form of snyder-robinson syndrome

Author keywords

[No Author keywords available]

Indexed keywords

SPERMINE SYNTHASE;

EID: 84882989863     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddt229     Document Type: Article
Times cited : (28)

References (24)
  • 1
    • 0014607265 scopus 로고
    • Recessive sex-linked mental retardation in the absence of other recognizable abnormalities
    • Snyder, R.D. and Robinson, A. (1969) Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. Clin. Pediatr. (Phila.), 8, 669-674.
    • (1969) Report of a family. Clin. Pediatr. (Phila.) , vol.8 , pp. 669-674
    • Snyder, R.D.1    Robinson, A.2
  • 2
    • 0030007790 scopus 로고    scopus 로고
    • X-linked mental retardation with thin habitus, osteoporosis and kyphoscoliosis: linkage to Xp21.3-p22.12.
    • Arena, J.F., Schwartz, C., Ouzts, L., Stevenson, R., Miller, M., Garza, J., Nance, M. and Lubs, H. (1996) X-linked mental retardation with thin habitus, osteoporosis and kyphoscoliosis: linkage to Xp21.3-p22.12. Am. J. Med. Genet., 64, 50-58.
    • (1996) Am. J. Med. Genet. , vol.64 , pp. 50-58
    • Arena, J.F.1    Schwartz, C.2    Ouzts, L.3    Stevenson, R.4    Miller, M.5    Garza, J.6    Nance, M.7    Lubs, H.8
  • 7
    • 77956276773 scopus 로고    scopus 로고
    • Computational analysis of missense mutations causing Snyder-Robinson syndrome
    • Zhang, Z., Teng, S., Wang, L., Schwartz, C.E. and Alexov, E. (2010) Computational analysis of missense mutations causing Snyder-Robinson syndrome. Hum. Mutat., 31, 1043-1049.
    • (2010) Hum. Mutat. , vol.31 , pp. 1043-1049
    • Zhang, Z.1    Teng, S.2    Wang, L.3    Schwartz, C.E.4    Alexov, E.5
  • 8
    • 79957582046 scopus 로고    scopus 로고
    • silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase
    • Zhang, Z., Norris, J., Schwartz, C. and Alexov, E. (2011) In silico and in vitro investigations of the mutability of disease-causing missense mutation sites in spermine synthase. PLoS One, 6, e20373.
    • (2011) PLoS One , vol.6
    • Zhang, Z.1    Norris, J.2    Schwartz, C.3    Alexov, E.4
  • 9
    • 66149102833 scopus 로고    scopus 로고
    • Modeling effects of human single nucleotide polymorphisms on protein-protein interactions
    • Teng, S., Madej, T., Panchenko, A. and Alexov, E. (2009) Modeling effects of human single nucleotide polymorphisms on protein-protein interactions. Biophys. J., 96, 2178-2188.
    • (2009) Biophys. J. , vol.96 , pp. 2178-2188
    • Teng, S.1    Madej, T.2    Panchenko, A.3    Alexov, E.4
  • 10
    • 41949118839 scopus 로고    scopus 로고
    • Approaches and resources for prediction of the effects of non-synonymous single nucleotide polymorphism on protein function and interactions
    • Teng, S., Michonova-Alexova, E. and Alexov, E. (2008) Approaches and resources for prediction of the effects of non-synonymous single nucleotide polymorphism on protein function and interactions. Curr. Pharm. Biotechnol., 9, 123-133.
    • (2008) Curr. Pharm. Biotechnol. , vol.9 , pp. 123-133
    • Teng, S.1    Michonova-Alexova, E.2    Alexov, E.3
  • 11
    • 4644298831 scopus 로고    scopus 로고
    • Polyamines increase in sympathetic neurons and non-neuronal cells after axotomy and enhance neurite outgrowth in nerve growth factor-primed PC12 cells
    • Schreiber, R.C., Boeshore, K.L., Laube, G., Veh, R.W. and Zigmond, R.E. (2004) Polyamines increase in sympathetic neurons and non-neuronal cells after axotomy and enhance neurite outgrowth in nerve growth factor-primed PC12 cells. Neuroscience, 128, 741-749.
    • (2004) Neuroscience , vol.128 , pp. 741-749
    • Schreiber, R.C.1    Boeshore, K.L.2    Laube, G.3    Veh, R.W.4    Zigmond, R.E.5
  • 12
    • 49749117054 scopus 로고    scopus 로고
    • Potentiation of nerve growth factor-induced neurite outgrowth by fluvoxamine: role of sigma-1 receptors, IP3 receptors and cellular signaling pathways
    • Nishimura, T., Ishima, T., Iyo, M. and Hashimoto, K. (2008) Potentiation of nerve growth factor-induced neurite outgrowth by fluvoxamine: role of sigma-1 receptors, IP3 receptors and cellular signaling pathways. PLoS One, 3, e2558.
    • (2008) PLoS One , vol.3
    • Nishimura, T.1    Ishima, T.2    Iyo, M.3    Hashimoto, K.4
  • 13
  • 15
    • 77951621022 scopus 로고    scopus 로고
    • Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
    • Hu, H., Wrogemann, K., Kalscheuer, V., Tzschach, A., Richard, H., Haas, S.A., Menzel, C., Bienek, M., Froyen, G., Raynaud, M. et al. (2009) Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J., 3, 41-49.
    • (2009) Hugo J. , vol.3 , pp. 41-49
    • Hu, H.1    Wrogemann, K.2    Kalscheuer, V.3    Tzschach, A.4    Richard, H.5    Haas, S.A.6    Menzel, C.7    Bienek, M.8    Froyen, G.9    Raynaud, M.10
  • 16
    • 79551489212 scopus 로고    scopus 로고
    • Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry
    • Sowell, J., Norris, J., Jones, K., Schwartz, C. andWood, T. (2011) Diagnostic screening for spermine synthase deficiency by liquid chromatography tandem mass spectrometry. Clin. Chim. Acta, 412, 655-660.
    • (2011) Clin. Chim. Acta , vol.412 , pp. 655-660
    • Sowell, J.1    Norris, J.2    Jones, K.3    Schwartz, C.4    Wood, T.5
  • 18
    • 0035838974 scopus 로고    scopus 로고
    • Extending the accuracy limits of prediction for side-chain conformations
    • Xiang, Z. and Honig, B. (2001) Extending the accuracy limits of prediction for side-chain conformations. J. Mol. Biol., 311, 421-430.
    • (2001) J. Mol. Biol. , vol.311 , pp. 421-430
    • Xiang, Z.1    Honig, B.2
  • 22
    • 33645941402 scopus 로고
    • The Opls potential functions for proteins-energy minimizations for crystals of cyclic-peptides and crambin
    • Jorgensen, W.L. and Tiradorives, J. (1988) The Opls potential functions for proteins-energy minimizations for crystals of cyclic-peptides and crambin. J. Am. Chem. Soc., 110, 1657-1666.
    • (1988) J. Am. Chem. Soc. , vol.110 , pp. 1657-1666
    • Jorgensen, W.L.1    Tiradorives, J.2
  • 23
    • 84861052952 scopus 로고    scopus 로고
    • Analyzing effects of naturally occurring missense mutations
    • Zhang, Z., Miteva, M.A., Wang, L. and Alexov, E. (2012) Analyzing effects of naturally occurring missense mutations. Comput. Math. Methods Med., 2012, 805-827.
    • (2012) Comput. Math. Methods Med. , vol.2012 , pp. 805-827
    • Zhang, Z.1    Miteva, M.A.2    Wang, L.3    Alexov, E.4
  • 24
    • 38949150854 scopus 로고    scopus 로고
    • Matt: local flexibility aids protein multiple structure alignment
    • Menke, M., Berger, B. and Cowen, L. (2008) Matt: local flexibility aids protein multiple structure alignment. PLoS Comput. Biol., 4, e10.
    • (2008) PLoS Comput. Biol. , vol.4
    • Menke, M.1    Berger, B.2    Cowen, L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.