메뉴 건너뛰기




Volumn 10, Issue 4, 2009, Pages 299-305

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

Author keywords

Cerebellum; Cerebrum; Hippocampus; MRI; Red nucleus; SMS; Snyder Robinson syndrome; Spermine synthase

Indexed keywords

SPERMINE SYNTHASE;

EID: 77957102925     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-009-0184-2     Document Type: Article
Times cited : (18)

References (27)
  • 1
    • 0014607265 scopus 로고
    • Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family
    • doi:10.1177/000992286900801114
    • Snyder RD, Robinson A (1969) Recessive sex-linked mental retardation in the absence of other recognizable abnormalities. Report of a family. Clin Pediatr 8(11):669-674. doi:10.1177/ 000992286900801114
    • (1969) Clin Pediatr , vol.8 , Issue.11 , 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
    • DOI 10.1002/(SICI)1096-8628(19960712)64:1<50::AID-AJMG7>3.0.CO;2-V
    • Arena JF, Schwartz C, Ouzts L, Stevenson R, Miller M, Garza J, Nance M, Lubs H (1996) X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: Linkage to Xp21.3-p22.12. Am J Med Genet 64(1):50-58. doi:10.1002/(SICI)1096-8628(19960712)64:1<50::AID-AJMG7>3.0.CO;2-V (Pubitemid 26238675)
    • (1996) American Journal of Medical Genetics , vol.64 , Issue.1 , 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
  • 4
    • 50049128469 scopus 로고    scopus 로고
    • 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
    • doi:10.1136/jmg.2007.056713
    • de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR, Schwartz CE, Passos-Bueno MR, Sertie AL (2008) 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. J Med Genet 45(8):539-543. doi:10.1136/jmg.2007.056713
    • (2008) J Med Genet , vol.45 , Issue.8 , pp. 539-543
    • De Alencastro, G.1    McCloskey, D.E.2    Kliemann, S.E.3    Maranduba, C.M.4    Pegg, A.E.5    Wang, X.6    Bertola, D.R.7    Schwartz, C.E.8    Passos-Bueno, M.R.9    Sertie, A.L.10
  • 5
    • 1542284582 scopus 로고    scopus 로고
    • Genetic approaches to the cellular functions of polyamines in mammals
    • DOI 10.1111/j.1432-1033.2004.04009.x
    • Janne J, Alhonen L, Pietila M, Keinanen TA (2004) Genetic approaches to the cellular functions of polyamines in mammals. Eur J Biochem 271(5):877-894. doi:10.1111/j.1432-1033.2004.04009.x (Pubitemid 38299643)
    • (2004) European Journal of Biochemistry , vol.271 , Issue.5 , pp. 877-894
    • Janne, J.1    Alhonen, L.2    Pietila, M.3    Keinanen, T.A.4
  • 9
    • 0030752751 scopus 로고    scopus 로고
    • Reliability and validity of MRI measurement of the amygdala and hippocampus in children with fragile X syndrome
    • DOI 10.1016/S0925-4927(97)00019-X, PII S092549279700019X
    • Kates WR, Abrams MT, Kaufmann WE, Breiter SN, Reiss AL (1997) Reliability and validity of MRI measurement of the amygdala and hippocampus in children with fragile X syndrome. Psychiatry Res 75(1):31-48. doi:10.1016/S0925-4927(97) 00019-X (Pubitemid 27372180)
    • (1997) Psychiatry Research - Neuroimaging , vol.75 , Issue.1 , pp. 31-48
    • Kates, W.R.1    Abrams, M.T.2    Kaufmann, W.E.3    Breiter, S.N.4    Reiss, A.L.5
  • 12
    • 0036734230 scopus 로고    scopus 로고
    • Age-related total gray matter and white matter changes in normal adult brain. Part I: Volumetric MR imaging analysis
    • Ge Y, Grossman RI, Babb JS, Rabin ML, Mannon LJ, Kolson DL (2002) Age-related total gray matter and white matter changes in normal adult brain. Part I: Volumetric MR imaging analysis. AJNR Am J Neuroradio 23(8):1327-1333 (Pubitemid 35033881)
    • (2002) American Journal of Neuroradiology , vol.23 , Issue.8 , pp. 1327-1333
    • Ge, Y.1    Grossman, R.I.2    Babb, J.S.3    Rabin, M.L.4    Mannon, L.J.5    Kolson, D.L.6
  • 13
    • 0028956729 scopus 로고
    • Polyamines as targets for therapeutic intervention
    • doi:10.1146/annurev.pa.35.040195.000415
    • Marton LJ, Pegg AE (1995) Polyamines as targets for therapeutic intervention. Annu Rev Pharmacol Toxicol 35:55-91. doi:10.1146/annurev.pa.35. 040195.000415
    • (1995) Annu Rev Pharmacol Toxicol , vol.35 , pp. 55-91
    • Marton, L.J.1    Pegg, A.E.2
  • 14
    • 9444254075 scopus 로고    scopus 로고
    • Neuroprotective effects of spermine following hypoxicischemic-induced brain damage: A mechanistic study
    • DOI 10.1096/fj.03-1203fje
    • Clarkson AN, Liu H, Pearson L, Kapoor M, Harrison JC, Sammut IA, Jackson DM, Appleton I (2004) Neuroprotective effects of spermine following hypoxic-ischemic-induced brain damage: A mechanistic study. FASEB J 18(10):1114-1116 (Pubitemid 39561541)
    • (2004) FASEB Journal , vol.18 , Issue.10 , pp. 1114-1116
    • Clarkson, A.N.1    Liu, H.2    Pearson, L.3    Kapoor, M.4    Harrison, J.C.5    Sammut, I.A.6    Jackson, D.M.7    Appleton, I.8
  • 16
    • 0035282733 scopus 로고    scopus 로고
    • Role of spermine in amyloid β-peptide-associated free radical-induced neurotoxicity
    • DOI 10.1002/1097-4547(20010301)63:5<395::AID-JNR1034>3.0.CO;2-Q
    • Yatin SM, Yatin M, Varadarajan S, Ain KB, Butterfield DA (2001) Role of spermine in amyloid beta-peptide-associated free radical-induced neurotoxicity. J Neurosci Res 63(5):395-401. doi :10.1002/1097-4547(20010301) 63:5<395::AIDJNR1034>3.0.CO;2-Q (Pubitemid 32183788)
    • (2001) Journal of Neuroscience Research , vol.63 , Issue.5 , pp. 395-401
    • Yatin, S.M.1    Yatin, M.2    Varadarajan, S.3    Ain, K.B.4    Allan Butterfield, D.5
  • 17
    • 0031882461 scopus 로고    scopus 로고
    • Decreased cerebellar posterior vermis size in fragile X syndrome: Correlation with neurocognitive performance
    • Mostofsky SH, Mazzocco MM, Aakalu G, Warsofsky IS, Denckla MB, Reiss AL (1998) Decreased cerebellar posterior vermis size in fragile X syndrome: Correlation with neurocognitive performance. Neurology 50(1):121-130
    • (1998) Neurology , vol.50 , Issue.1 , pp. 121-130
    • Mostofsky, S.H.1    Mazzocco, M.M.2    Aakalu, G.3    Warsofsky, I.S.4    Denckla, M.B.5    Reiss, A.L.6
  • 18
    • 4544259147 scopus 로고    scopus 로고
    • Disorders of the cerebellum: Ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome
    • DOI 10.1176/appi.neuropsych.16.3.367
    • Schmahmann JD (2004) Disorders of the cerebellum: Ataxia, dysmetria of thought, and the cerebellar cognitive affective syndrome. J Neuropsychiatry Clin Neurosci 16(3):367-378. doi:10.1176/appi.neuropsych.16.3.367 (Pubitemid 39244566)
    • (2004) Journal of Neuropsychiatry and Clinical Neurosciences , vol.16 , Issue.3 , pp. 367-378
    • Schmahmann, J.D.1
  • 19
    • 33646122685 scopus 로고    scopus 로고
    • The polyamine binding site in inward rectifier K+channels
    • doi:10.1085/jgp. 200509467
    • Kurata HT, Marton LJ, Nichols CG (2006) The polyamine binding site in inward rectifier K+channels. J Gen Physiol 127 (5):467-480. doi:10.1085/jgp. 200509467
    • (2006) J Gen Physiol , vol.127 , Issue.5 , pp. 467-480
    • Kurata, H.T.1    Marton, L.J.2    Nichols, C.G.3
  • 20
    • 0033179841 scopus 로고    scopus 로고
    • Inwardly rectifying potassium channels
    • DOI 10.1016/S0955-0674(99)80073-8
    • Reimann F, Ashcroft FM (1999) Inwardly rectifying potassium channels. Curr Opin Cell Biol 11(4):503-508. doi:10.1016/S0955-0674(99) 80073-8 (Pubitemid 29396799)
    • (1999) Current Opinion in Cell Biology , vol.11 , Issue.4 , pp. 503-508
    • Reimann, F.1    Ashcroft, F.M.2
  • 21
    • 33846404179 scopus 로고    scopus 로고
    • B-induced potassium current
    • DOI 10.1152/jn.00626.2006
    • Best TK, Siarey RJ, Galdzicki Z (2007) Ts65Dn, a mouse model of Down syndrome, exhibits increased GABAB-induced potassium current. J Neurophysiol 97(1):892-900. doi:10.1152/ jn.00626.2006 (Pubitemid 46143403)
    • (2007) Journal of Neurophysiology , vol.97 , Issue.1 , pp. 892-900
    • Best, T.K.1    Siarey, R.J.2    Galdzicki, Z.3
  • 22
    • 2142717327 scopus 로고    scopus 로고
    • Intracellular spermine decreases open probability of N-methyl-D-aspartate receptor channels
    • DOI 10.1016/j.neuroscience.2004.03.003, PII S0306452204001757
    • Turecek R, Vlcek K, Petrovic M, Horak M, Vlachova V, Vyklicky L (2004) Intracellular spermine decreases open probability of Nmethyl-D-aspartate receptor channels. Neuroscience 125(4):879-887. doi:10.1016/j.neuroscience.2004. 03.003 (Pubitemid 38553896)
    • (2004) Neuroscience , vol.125 , Issue.4 , pp. 879-887
    • Turecek, R.1    Vlcek, K.2    Petrovic, M.3    Horak, M.4    Vlachova, V.5    Vyklicky Jr., L.6
  • 23
    • 32544453979 scopus 로고    scopus 로고
    • Long-term depression of NMDA receptor-mediated synaptic transmission is dependent on activation of metabotropic glutamate receptors and is altered to long-term potentiation by low intracellular calcium buffering
    • DOI 10.1523/JNEUROSCI.2753-05.2006
    • Harney SC, Rowan M, Anwyl R (2006) Long-term depression of NMDA receptor-mediated synaptic transmission is dependent on activation of metabotropic glutamate receptors and is altered to long-term potentiation by low intracellular calcium buffering. J Neurosci 26(4):1128-1132 (Pubitemid 43237044)
    • (2006) Journal of Neuroscience , vol.26 , Issue.4 , pp. 1128-1132
    • Harney, S.C.1    Rowan, M.2    Anwyl, R.3
  • 24
    • 0035055808 scopus 로고    scopus 로고
    • Regulation of SSAT expression by synaptic activity
    • DOI 10.1046/j.0953-816X.2001.01529.x
    • Ingi T, Worley PF, Lanahan AA (2001) Regulation of SSAT expression by synaptic activity. Eur J Neurosci 13(7):1459-1463. doi:10.1046/j.0953-816x.2001. 01529.x (Pubitemid 32328502)
    • (2001) European Journal of Neuroscience , vol.13 , Issue.7 , pp. 1459-1463
    • Ingi, T.1    Worley, P.F.2    Lanahan, A.A.3
  • 25
    • 17644371987 scopus 로고    scopus 로고
    • Polyamines modulate AMPA receptor-dependent synaptic responses in immature layer V pyramidal neurons
    • DOI 10.1152/jn.01054.2004
    • Shin J, Shen F, Huguenard JR (2005) Polyamines modulate AMPA receptor-dependent synaptic responses in immature layer v pyramidal neurons. J Neurophysiol 93(5):2634-2643. doi:10.1152/jn.01054.2004 (Pubitemid 40570844)
    • (2005) Journal of Neurophysiology , vol.93 , Issue.5 , pp. 2634-2643
    • Shin, J.1    Shen, F.2    Huguenard, J.R.3
  • 26
    • 0030853492 scopus 로고    scopus 로고
    • Interactions of polyamines with ion channels
    • Williams K (1997) Interactions of polyamines with ion channels. Biochem J 325(Pt 2):289-297 (Pubitemid 27338704)
    • (1997) Biochemical Journal , vol.325 , Issue.2 , pp. 289-297
    • Williams, K.1
  • 27
    • 0029051691 scopus 로고
    • Brain polyamine levels are altered in Alzheimer's disease
    • doi:10.1016/ 0304-3940(95) 11881-V
    • Morrison LD, Kish SJ (1995) Brain polyamine levels are altered in Alzheimer's disease. Neurosci Lett 197(1):5-8. doi:10.1016/ 0304-3940(95) 11881-V
    • (1995) Neurosci Lett , vol.197 , Issue.1 , pp. 5-8
    • Morrison, L.D.1    Kish, S.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.