메뉴 건너뛰기




Volumn 6, Issue 11, 2011, Pages

Characterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTB

Author keywords

[No Author keywords available]

Indexed keywords

PENTETRAZOLE; CSTB PROTEIN, MOUSE; CYSTATIN B;

EID: 82355183178     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0027845     Document Type: Article
Times cited : (9)

References (94)
  • 1
    • 67651036860 scopus 로고    scopus 로고
    • Aneuploidy: From a Physiological Mechanism of Variance to Down Syndrome
    • Dierssen M, Herault Y, Estivill X, (2009) Aneuploidy: From a Physiological Mechanism of Variance to Down Syndrome. Physiological Reviews 89: 887-920.
    • (2009) Physiological Reviews , vol.89 , pp. 887-920
    • Dierssen, M.1    Herault, Y.2    Estivill, X.3
  • 3
    • 0032927816 scopus 로고    scopus 로고
    • MRI volumes of the hippocampus and amygdala in adults with Down's syndrome with and without dementia
    • Aylward EH, Li Q, Honeycutt NA, Warren AC, Pulsifer MB, et al. (1999) MRI volumes of the hippocampus and amygdala in adults with Down's syndrome with and without dementia. American Journal of Psychiatry 156: 564-568.
    • (1999) American Journal of Psychiatry , vol.156 , pp. 564-568
    • Aylward, E.H.1    Li, Q.2    Honeycutt, N.A.3    Warren, A.C.4    Pulsifer, M.B.5
  • 4
    • 0035836647 scopus 로고    scopus 로고
    • Amygdala and hippocampal volumes in children with Down syndrome: A high-resolution MRI study
    • Pinter JD, Brown WE, Eliez S, Schmitt JE, Capone GT, et al. (2001) Amygdala and hippocampal volumes in children with Down syndrome: A high-resolution MRI study. Neurology 56: 972-974.
    • (2001) Neurology , vol.56 , pp. 972-974
    • Pinter, J.D.1    Brown, W.E.2    Eliez, S.3    Schmitt, J.E.4    Capone, G.T.5
  • 5
    • 0036368653 scopus 로고    scopus 로고
    • Relation of medial temporal lobe volumes to age and memory function in nondemented adults with Down's syndrome: Implications for the prodromal phase of Alzheimer's disease
    • Krasuski JS, Alexander GE, Horwitz B, Rapoport SI, Schapiro MB, (2002) Relation of medial temporal lobe volumes to age and memory function in nondemented adults with Down's syndrome: Implications for the prodromal phase of Alzheimer's disease. American Journal of Psychiatry 159: 74-81.
    • (2002) American Journal of Psychiatry , vol.159 , pp. 74-81
    • Krasuski, J.S.1    Alexander, G.E.2    Horwitz, B.3    Rapoport, S.I.4    Schapiro, M.B.5
  • 6
    • 0242348738 scopus 로고    scopus 로고
    • Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions
    • Gardiner K, Fortna A, Bechtel L, Davisson MT, (2003) Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions. Gene 318: 137-147.
    • (2003) Gene , vol.318 , pp. 137-147
    • Gardiner, K.1    Fortna, A.2    Bechtel, L.3    Davisson, M.T.4
  • 7
    • 0029114706 scopus 로고
    • A mouse model for down-syndrome exhibits learning and behavior deficits
    • Reeves RH, Irving NG, Moran TH, Wohn A, Kitt C, et al. (1995) A Mouse model for down-syndrome exhibits learning and behavior deficits. Nature Genetics 11: 177-184.
    • (1995) Nature Genetics , vol.11 , pp. 177-184
    • Reeves, R.H.1    Irving, N.G.2    Moran, T.H.3    Wohn, A.4    Kitt, C.5
  • 9
    • 75149166144 scopus 로고    scopus 로고
    • Molecular basis of pharmacotherapies for cognition in Down syndrome
    • Gardiner KJ, (2010) Molecular basis of pharmacotherapies for cognition in Down syndrome. Trends in Pharmacological Sciences 31: 66-73.
    • (2010) Trends in Pharmacological Sciences , vol.31 , pp. 66-73
    • Gardiner, K.J.1
  • 10
    • 33947673494 scopus 로고    scopus 로고
    • Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome
    • Fernandez F, Morishita W, Zuniga E, Nguyen J, Blank M, et al. (2007) Pharmacotherapy for cognitive impairment in a mouse model of Down syndrome. Nature Neuroscience 10: 411-413.
    • (2007) Nature Neuroscience , vol.10 , pp. 411-413
    • Fernandez, F.1    Morishita, W.2    Zuniga, E.3    Nguyen, J.4    Blank, M.5
  • 11
    • 82355167932 scopus 로고    scopus 로고
    • Chronic pentylenetetrazole but not donepezil treatment rescues spatial cognition in TS65DN mice, a model for down's syndrome
    • Rueda N, Florez J, Cue CM, (2008) Chronic pentylenetetrazole but not donepezil treatment rescues spatial cognition in ts65dn mice, a model for down's syndrome. Methods and Findings in Experimental and Clinical Pharmacology 30: 92-92.
    • (2008) Methods and Findings in Experimental and Clinical Pharmacology , vol.30 , pp. 92
    • Rueda, N.1    Florez, J.2    Cue, C.M.3
  • 12
    • 0019731736 scopus 로고
    • The gaba postsynaptic membrane receptor-ionophore complex - site of action of convulsant and anticonvulsant drugs
    • Olsen RW, (1981) The gaba postsynaptic membrane receptor-ionophore complex- site of action of convulsant and anticonvulsant drugs. Molecular and Cellular Biochemistry 39: 261-279.
    • (1981) Molecular and Cellular Biochemistry , vol.39 , pp. 261-279
    • Olsen, R.W.1
  • 13
    • 0021361095 scopus 로고
    • Interactions of pentamethylenetetrazole and tetrazole analogs with the picrotoxinin site of the benzodiazepine-gaba receptor-ionophore complex
    • Ramanjaneyulu R, Ticku MK, (1984) Interactions of pentamethylenetetrazole and tetrazole analogs with the picrotoxinin site of the benzodiazepine-gaba receptor-ionophore complex. European Journal of Pharmacology 98: 337-345.
    • (1984) European Journal of Pharmacology , vol.98 , pp. 337-345
    • Ramanjaneyulu, R.1    Ticku, M.K.2
  • 14
    • 0016134859 scopus 로고
    • Prevalence of epilepsy among mongols related to age
    • Veall RM, (1974) Prevalence of epilepsy among mongols related to age. Journal of Mental Deficiency Research 18: 99-106.
    • (1974) Journal of Mental Deficiency Research , vol.18 , pp. 99-106
    • Veall, R.M.1
  • 16
    • 0018769703 scopus 로고
    • Eeg and incidence of epilepsy in downs-syndrome
    • Tangye SR, (1979) Eeg and incidence of epilepsy in downs-syndrome. Journal of Mental Deficiency Research 23: 17-24.
    • (1979) Journal of Mental Deficiency Research , vol.23 , pp. 17-24
    • Tangye, S.R.1
  • 18
    • 34548844233 scopus 로고    scopus 로고
    • Gene expression variation in 'Down syndrome' mice allows prioritization of candidate genes
    • Sultan M, Piccini I, Balzereit D, Herwig R, Saran NG, et al. (2007) Gene expression variation in 'Down syndrome' mice allows prioritization of candidate genes. Genome Biology 8.
    • (2007) Genome Biology , vol.8
    • Sultan, M.1    Piccini, I.2    Balzereit, D.3    Herwig, R.4    Saran, N.G.5
  • 19
    • 17744419667 scopus 로고    scopus 로고
    • Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
    • Virtaneva K, Damato E, Miao IM, Koskiniemi M, Norio R, et al. (1997) Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nature Genetics 15: 393-396.
    • (1997) Nature Genetics , vol.15 , pp. 393-396
    • Virtaneva, K.1    Damato, E.2    Miao, I.M.3    Koskiniemi, M.4    Norio, R.5
  • 20
    • 0030964106 scopus 로고    scopus 로고
    • Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
    • Lalioti MD, Scott HS, Buresi C, Rossier C, Bottani A, et al. (1997) Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 386: 847-851.
    • (1997) Nature , vol.386 , pp. 847-851
    • Lalioti, M.D.1    Scott, H.S.2    Buresi, C.3    Rossier, C.4    Bottani, A.5
  • 21
    • 0031034894 scopus 로고    scopus 로고
    • Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
    • Lafreniere RG, Rochefort DL, Chretien N, Rommens JM, Cochius JI, et al. (1997) Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nature Genetics 15: 298-302.
    • (1997) Nature Genetics , vol.15 , pp. 298-302
    • Lafreniere, R.G.1    Rochefort, D.L.2    Chretien, N.3    Rommens, J.M.4    Cochius, J.I.5
  • 23
    • 0037288536 scopus 로고    scopus 로고
    • Evolution of the cystatin B gene: implications for the origin of its variable dodecamer tandem repeat in humans
    • Osawa M, Kaneko M, Horiuchi H, Kitano T, Kawamoto Y, et al. (2003) Evolution of the cystatin B gene: implications for the origin of its variable dodecamer tandem repeat in humans. Genomics 81: 78-84.
    • (2003) Genomics , vol.81 , pp. 78-84
    • Osawa, M.1    Kaneko, M.2    Horiuchi, H.3    Kitano, T.4    Kawamoto, Y.5
  • 24
    • 13544255732 scopus 로고    scopus 로고
    • Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations
    • Alakurtti K, Weber E, Rinne R, Theil G, de Haan GJ, et al. (2005) Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. European Journal of Human Genetics 13: 208-215.
    • (2005) European Journal of Human Genetics , vol.13 , pp. 208-215
    • Alakurtti, K.1    Weber, E.2    Rinne, R.3    Theil, G.4    de Haan, G.J.5
  • 25
    • 0031764610 scopus 로고    scopus 로고
    • Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice
    • Pennacchio LA, Bouley DM, Higgins KM, Scott MP, Noebels JL, et al. (1998) Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice. Nature Genetics 20: 251-258.
    • (1998) Nature Genetics , vol.20 , pp. 251-258
    • Pennacchio, L.A.1    Bouley, D.M.2    Higgins, K.M.3    Scott, M.P.4    Noebels, J.L.5
  • 27
    • 0034116090 scopus 로고    scopus 로고
    • Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons
    • D'Amato E, Kokaia Z, Nanobashvili A, Reeben M, Lehesjoki AE, et al. (2000) Seizures induce widespread upregulation of cystatin B, the gene mutated in progressive myoclonus epilepsy, in rat forebrain neurons. European Journal of Neuroscience 12: 1687-1695.
    • (2000) European Journal of Neuroscience , vol.12 , pp. 1687-1695
    • D'Amato, E.1    Kokaia, Z.2    Nanobashvili, A.3    Reeben, M.4    Lehesjoki, A.E.5
  • 31
    • 33746659123 scopus 로고    scopus 로고
    • Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization
    • Brault V, Pereira P, Duchon A, Herault Y, (2006) Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization. Plos Genetics 2: 911-919.
    • (2006) Plos Genetics , vol.2 , pp. 911-919
    • Brault, V.1    Pereira, P.2    Duchon, A.3    Herault, Y.4
  • 32
    • 0033152654 scopus 로고    scopus 로고
    • A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice
    • Zheng BH, Mills AA, Bradley A, (1999) A system for rapid generation of coat color-tagged knockouts and defined chromosomal rearrangements in mice. Nucleic Acids Research 27: 2354-2360.
    • (1999) Nucleic Acids Research , vol.27 , pp. 2354-2360
    • Zheng, B.H.1    Mills, A.A.2    Bradley, A.3
  • 33
    • 0026635749 scopus 로고
    • A new mouse embryonic stem cell line with good germ line contribution and gene targeting frequency
    • Magin T, McWhir J, Melton D, (1992) A new mouse embryonic stem cell line with good germ line contribution and gene targeting frequency. Nucleic Acids Res 20: 3795-3796.
    • (1992) Nucleic Acids Res , vol.20 , pp. 3795-3796
    • Magin, T.1    McWhir, J.2    Melton, D.3
  • 34
    • 0016152914 scopus 로고
    • Common synaptic effects of pentylenetetrazol and penicillin
    • Wilson WA, Escueta AV, (1974) Common synaptic effects of pentylenetetrazol and penicillin. Brain Research 72: 168-171.
    • (1974) Brain Research , vol.72 , pp. 168-171
    • Wilson, W.A.1    Escueta, A.V.2
  • 36
    • 0037403505 scopus 로고    scopus 로고
    • Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain
    • Mao R, Zielke CL, Zielke HR, Pevsner J, (2003) Global up-regulation of chromosome 21 gene expression in the developing Down syndrome brain. Genomics 81: 457-467.
    • (2003) Genomics , vol.81 , pp. 457-467
    • Mao, R.1    Zielke, C.L.2    Zielke, H.R.3    Pevsner, J.4
  • 37
    • 34548264230 scopus 로고    scopus 로고
    • Classification of human chromosome 21 gene-expression variations in down syndrome: Impact on disease phenotypes
    • Yahya-Graison EA, Aubert J, Dauphinot L, Rivals I, Prieur M, et al. (2007) Classification of human chromosome 21 gene-expression variations in down syndrome: Impact on disease phenotypes. American Journal of Human Genetics 81: 475-491.
    • (2007) American Journal of Human Genetics , vol.81 , pp. 475-491
    • Yahya-Graison, E.A.1    Aubert, J.2    Dauphinot, L.3    Rivals, I.4    Prieur, M.5
  • 38
    • 34548496286 scopus 로고    scopus 로고
    • Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy
    • Conti A, Fabbrini F, D'Agostino P, Negri R, Greco D, et al. (2007) Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy. Bmc Genomics 8.
    • (2007) Bmc Genomics , vol.8
    • Conti, A.1    Fabbrini, F.2    D'Agostino, P.3    Negri, R.4    Greco, D.5
  • 40
    • 0028347355 scopus 로고
    • Overexpression of liver-type phosphofructokinase (pfkl) in transgenic-pfkl mice - implication for gene dosage in trisomy-21
    • Elson A, Levanon D, Weiss Y, Groner Y, (1994) Overexpression of liver-type phosphofructokinase (pfkl) in transgenic-pfkl mice- implication for gene dosage in trisomy-21. Biochemical Journal 299: 409-415.
    • (1994) Biochemical Journal , vol.299 , pp. 409-415
    • Elson, A.1    Levanon, D.2    Weiss, Y.3    Groner, Y.4
  • 41
    • 0027731832 scopus 로고
    • Female-specific hyperactivity in s100-beta transgenic mice does not habituate in open-field
    • Gerlai R, Roder J, (1993) Female-specific hyperactivity in s100-beta transgenic mice does not habituate in open-field. Behavioural Brain Research 59: 119-124.
    • (1993) Behavioural Brain Research , vol.59 , pp. 119-124
    • Gerlai, R.1    Roder, J.2
  • 42
    • 0030237082 scopus 로고    scopus 로고
    • Spatial and nonspatial learning in mice: Effects of S100 beta overexpression and age
    • Gerlai R, Roder J, (1996) Spatial and nonspatial learning in mice: Effects of S100 beta overexpression and age. Neurobiology of Learning and Memory 66: 143-154.
    • (1996) Neurobiology of Learning and Memory , vol.66 , pp. 143-154
    • Gerlai, R.1    Roder, J.2
  • 43
    • 13344276562 scopus 로고    scopus 로고
    • Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice
    • Sumarsono SH, Wilson TJ, Tymms MJ, Venter DJ, Corrick CM, et al. (1996) Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice. Nature 379: 534-537.
    • (1996) Nature , vol.379 , pp. 534-537
    • Sumarsono, S.H.1    Wilson, T.J.2    Tymms, M.J.3    Venter, D.J.4    Corrick, C.M.5
  • 44
    • 0028985574 scopus 로고
    • Alzheimer-type neuropathology in transgenic mice overexpressing v717f beta-amyloid precursor protein
    • Games D, Adams D, Alessandrini R, Barbour R, Berthelette P, et al. (1995) Alzheimer-type neuropathology in transgenic mice overexpressing v717f beta-amyloid precursor protein. Nature 373: 523-527.
    • (1995) Nature , vol.373 , pp. 523-527
    • Games, D.1    Adams, D.2    Alessandrini, R.3    Barbour, R.4    Berthelette, P.5
  • 45
    • 0029742199 scopus 로고    scopus 로고
    • Correlative memory deficits, A beta elevation, and amyloid plaques in transgenic mice
    • Hsiao K, Chapman P, Nilsen S, Eckman C, Harigaya Y, et al. (1996) Correlative memory deficits, A beta elevation, and amyloid plaques in transgenic mice. Science 274: 99-102.
    • (1996) Science , vol.274 , pp. 99-102
    • Hsiao, K.1    Chapman, P.2    Nilsen, S.3    Eckman, C.4    Harigaya, Y.5
  • 47
    • 0032538959 scopus 로고    scopus 로고
    • Aggressive behaviour in transgenic mice expressing APP is alleviated by serotonergic drugs
    • Moechars D, Gilis M, Kuiperi C, Laenen I, Van Leuven F, (1998) Aggressive behaviour in transgenic mice expressing APP is alleviated by serotonergic drugs. Neuroreport 9: 3561-3564.
    • (1998) Neuroreport , vol.9 , pp. 3561-3564
    • Moechars, D.1    Gilis, M.2    Kuiperi, C.3    Laenen, I.4    Van Leuven, F.5
  • 48
    • 0032837516 scopus 로고    scopus 로고
    • Mild impairment of learning and memory in mice overexpressing the mSim2 gene located on chromosome 16: an animal model of Down's syndrome
    • Ema M, Ikegami S, Hosoya T, Mimura J, Ohtani H, et al. (1999) Mild impairment of learning and memory in mice overexpressing the mSim2 gene located on chromosome 16: an animal model of Down's syndrome. Human Molecular Genetics 8: 1409-1415.
    • (1999) Human Molecular Genetics , vol.8 , pp. 1409-1415
    • Ema, M.1    Ikegami, S.2    Hosoya, T.3    Mimura, J.4    Ohtani, H.5
  • 50
    • 13344269666 scopus 로고    scopus 로고
    • Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
    • Pennacchio LA, Lehesjoki AE, Stone NE, Willour VL, Virtaneva K, et al. (1996) Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1). Science 271: 1731-1734.
    • (1996) Science , vol.271 , pp. 1731-1734
    • Pennacchio, L.A.1    Lehesjoki, A.E.2    Stone, N.E.3    Willour, V.L.4    Virtaneva, K.5
  • 51
    • 0019955807 scopus 로고
    • Auditory and visual sequential memory of down syndrome and nonretarded-children
    • Marcell MM, Armstrong V, (1982) Auditory and visual sequential memory of down syndrome and nonretarded-children. American Journal of Mental Deficiency 87: 86-95.
    • (1982) American Journal of Mental Deficiency , vol.87 , pp. 86-95
    • Marcell, M.M.1    Armstrong, V.2
  • 53
    • 0038687498 scopus 로고    scopus 로고
    • The neuropsychology of Down syndrome: Evidence for hippocampal dysfunction
    • Pennington BF, Moon J, Edgin J, Stedron J, Nadel L, (2003) The neuropsychology of Down syndrome: Evidence for hippocampal dysfunction. Child Development 74: 75-93.
    • (2003) Child Development , vol.74 , pp. 75-93
    • Pennington, B.F.1    Moon, J.2    Edgin, J.3    Stedron, J.4    Nadel, L.5
  • 54
    • 0042823394 scopus 로고    scopus 로고
    • Behavioral assessment of children with Down syndrome using the Reiss psychopathology scale
    • Clark D, Wilson GN, (2003) Behavioral assessment of children with Down syndrome using the Reiss psychopathology scale. American Journal of Medical Genetics Part A 118A: 210-216.
    • (2003) American Journal of Medical Genetics Part A , vol.118 A , pp. 210-216
    • Clark, D.1    Wilson, G.N.2
  • 55
    • 0042025827 scopus 로고    scopus 로고
    • Down's syndrome: a genetic disorder in biobehavioral perspective
    • Nadel L, (2003) Down's syndrome: a genetic disorder in biobehavioral perspective. Genes Brain and Behavior 2: 156-166.
    • (2003) Genes Brain and Behavior , vol.2 , pp. 156-166
    • Nadel, L.1
  • 57
    • 0042309765 scopus 로고    scopus 로고
    • Special interest section - Down's syndrome: postgenomic approaches to neurobiological problems
    • Dierssen M, (2003) Special interest section- Down's syndrome: postgenomic approaches to neurobiological problems. Genes Brain and Behavior 2: 152-155.
    • (2003) Genes Brain and Behavior , vol.2 , pp. 152-155
    • Dierssen, M.1
  • 58
    • 18244415365 scopus 로고    scopus 로고
    • Hippocampal volume and neuronal number in Ts65Dn mice: a murine model of down syndrome
    • Insausti AM, Megias M, Crespo D, Cruz-Orive LM, Dierssen M, et al. (1998) Hippocampal volume and neuronal number in Ts65Dn mice: a murine model of down syndrome. Neuroscience Letters 253: 175-178.
    • (1998) Neuroscience Letters , vol.253 , pp. 175-178
    • Insausti, A.M.1    Megias, M.2    Crespo, D.3    Cruz-Orive, L.M.4    Dierssen, M.5
  • 60
    • 0033970177 scopus 로고    scopus 로고
    • Synaptic deficit in the temporal cortex of partial trisomy 16 (Ts65Dn) mice
    • Kurt MA, Davies DC, Kidd M, Dierssen M, Florez J, (2000) Synaptic deficit in the temporal cortex of partial trisomy 16 (Ts65Dn) mice. Brain Research 858: 191-197.
    • (2000) Brain Research , vol.858 , pp. 191-197
    • Kurt, M.A.1    Davies, D.C.2    Kidd, M.3    Dierssen, M.4    Florez, J.5
  • 64
    • 0030800771 scopus 로고    scopus 로고
    • Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient
    • Bespalova IN, Adkins S, Pranzatelli M, Burmeister M, (1997) Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. American Journal of Medical Genetics 74: 467-471.
    • (1997) American Journal of Medical Genetics , vol.74 , pp. 467-471
    • Bespalova, I.N.1    Adkins, S.2    Pranzatelli, M.3    Burmeister, M.4
  • 65
    • 16944365407 scopus 로고    scopus 로고
    • Identification of mutations in Cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1)
    • Lalioti MD, Mirotsou M, Buresi C, Peitsch MC, Rossier C, et al. (1997) Identification of mutations in Cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). American Journal of Human Genetics 60: 342-351.
    • (1997) American Journal of Human Genetics , vol.60 , pp. 342-351
    • Lalioti, M.D.1    Mirotsou, M.2    Buresi, C.3    Peitsch, M.C.4    Rossier, C.5
  • 67
    • 33846287978 scopus 로고    scopus 로고
    • Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients
    • Joensuu T, Kuronen M, Alakurtti K, Tegelberg S, Hakala P, et al. (2007) Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. European Journal of Human Genetics 15: 185-193.
    • (2007) European Journal of Human Genetics , vol.15 , pp. 185-193
    • Joensuu, T.1    Kuronen, M.2    Alakurtti, K.3    Tegelberg, S.4    Hakala, P.5
  • 68
    • 0020467150 scopus 로고
    • Human spleen cysteine-proteinase inhibitor - purification, fractionation into isoelectric variants and some properties of the variants
    • Jarvinen M, Rinne A, (1982) Human spleen cysteine-proteinase inhibitor- purification, fractionation into isoelectric variants and some properties of the variants. Biochimica Et Biophysica Acta 708: 210-217.
    • (1982) Biochimica Et Biophysica Acta , vol.708 , pp. 210-217
    • Jarvinen, M.1    Rinne, A.2
  • 69
    • 0025817602 scopus 로고
    • The cystatins - protein inhibitors of cysteine proteinases
    • Turk V, Bode W, (1991) The cystatins- protein inhibitors of cysteine proteinases. Febs Letters 285: 213-219.
    • (1991) Febs Letters , vol.285 , pp. 213-219
    • Turk, V.1    Bode, W.2
  • 70
    • 0022407298 scopus 로고
    • Amino-acid sequence of the intracellular cysteine proteinase-inhibitor cystatin-b from human-liver
    • Ritonja A, Machleidt W, Barrett AJ, (1985) Amino-acid sequence of the intracellular cysteine proteinase-inhibitor cystatin-b from human-liver. Biochemical and Biophysical Research Communications 131: 1187-1192.
    • (1985) Biochemical and Biophysical Research Communications , vol.131 , pp. 1187-1192
    • Ritonja, A.1    Machleidt, W.2    Barrett, A.J.3
  • 71
    • 0023733116 scopus 로고
    • Cloning a synthetic gene for human stefin-b and its expression in escherichia-coli
    • Jerala R, Trstenjak M, Lenarcic B, Turk V, (1988) Cloning a synthetic gene for human stefin-b and its expression in escherichia-coli. Febs Letters 239: 41-44.
    • (1988) Febs Letters , vol.239 , pp. 41-44
    • Jerala, R.1    Trstenjak, M.2    Lenarcic, B.3    Turk, V.4
  • 73
    • 0023024774 scopus 로고
    • Isolation of 6 cysteine proteinase-inhibitors from human-urine - their physicochemical and enzyme kinetic-properties and concentrations in biological-fluids
    • Abrahamson M, Barrett AJ, Salvesen G, Grubb A, (1986) Isolation of 6 cysteine proteinase-inhibitors from human-urine- their physicochemical and enzyme kinetic-properties and concentrations in biological-fluids. Journal of Biological Chemistry 261: 1282-1289.
    • (1986) Journal of Biological Chemistry , vol.261 , pp. 1282-1289
    • Abrahamson, M.1    Barrett, A.J.2    Salvesen, G.3    Grubb, A.4
  • 74
  • 75
    • 0036848257 scopus 로고    scopus 로고
    • New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B
    • Di Giaimo R, Riccio M, Santi S, Galleotti C, Ambrosetti DC, et al. (2002) New insights into the molecular basis of progressive myoclonus epilepsy: a multiprotein complex with cystatin B. Human Molecular Genetics 11: 2941-2950.
    • (2002) Human Molecular Genetics , vol.11 , pp. 2941-2950
    • Di Giaimo, R.1    Riccio, M.2    Santi, S.3    Galleotti, C.4    Ambrosetti, D.C.5
  • 76
    • 0035445736 scopus 로고    scopus 로고
    • Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome
    • Altafaj X, Dierssen M, Baamonde C, Marti E, Visa J, et al. (2001) Neurodevelopmental delay, motor abnormalities and cognitive deficits in transgenic mice overexpressing Dyrk1A (minibrain), a murine model of Down's syndrome. Human Molecular Genetics 10: 1915-1923.
    • (2001) Human Molecular Genetics , vol.10 , pp. 1915-1923
    • Altafaj, X.1    Dierssen, M.2    Baamonde, C.3    Marti, E.4    Visa, J.5
  • 77
    • 0036724569 scopus 로고    scopus 로고
    • Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice
    • Fotaki V, Dierssen M, Alcantara S, Martinez S, Marti E, et al. (2002) Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. Molecular and Cellular Biology 22: 6636-6647.
    • (2002) Molecular and Cellular Biology , vol.22 , pp. 6636-6647
    • Fotaki, V.1    Dierssen, M.2    Alcantara, S.3    Martinez, S.4    Marti, E.5
  • 78
    • 0036765816 scopus 로고    scopus 로고
    • Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations
    • Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, et al. (2002) Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations. Human Genetics 111: 255-262.
    • (2002) Human Genetics , vol.111 , pp. 255-262
    • Moulard, B.1    Genton, P.2    Grid, D.3    Jeanpierre, M.4    Ouazzani, R.5
  • 79
    • 15244363811 scopus 로고    scopus 로고
    • Protein aggregation as a possible cause for pathology in a subset of familial Unverricht-Lundborg disease
    • Ceru S, Rabzelj S, Kopitar-Jerala N, Turk V, Zerovnik E, (2005) Protein aggregation as a possible cause for pathology in a subset of familial Unverricht-Lundborg disease. Medical Hypotheses 64: 955-959.
    • (2005) Medical Hypotheses , vol.64 , pp. 955-959
    • Ceru, S.1    Rabzelj, S.2    Kopitar-Jerala, N.3    Turk, V.4    Zerovnik, E.5
  • 80
    • 4644250821 scopus 로고    scopus 로고
    • Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndrome
    • Kleschevnikov AM, Belichenko PV, Villar AJ, Epstein CJ, Malenka RC, et al. (2004) Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndrome. Journal of Neuroscience 24: 8153-8160.
    • (2004) Journal of Neuroscience , vol.24 , pp. 8153-8160
    • Kleschevnikov, A.M.1    Belichenko, P.V.2    Villar, A.J.3    Epstein, C.J.4    Malenka, R.C.5
  • 81
    • 0029115971 scopus 로고
    • A potassium channel mutation in weaver mice implicates membrane excitability in granule cell-differentiation
    • Patil N, Cox DR, Bhat D, Faham M, Myers RM, et al. (1995) A potassium channel mutation in weaver mice implicates membrane excitability in granule cell-differentiation. Nature Genetics 11: 126-129.
    • (1995) Nature Genetics , vol.11 , pp. 126-129
    • Patil, N.1    Cox, D.R.2    Bhat, D.3    Faham, M.4    Myers, R.M.5
  • 82
    • 0034615048 scopus 로고    scopus 로고
    • Mutation analysis of the inwardly rectifying K+ channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in juvenile myoclonic epilepsy
    • Hallmann K, Durner M, Sander T, Steinlein OK, (2000) Mutation analysis of the inwardly rectifying K+ channels KCNJ6 (GIRK2) and KCNJ3 (GIRK1) in juvenile myoclonic epilepsy. American Journal of Medical Genetics 96: 8-11.
    • (2000) American Journal of Medical Genetics , vol.96 , pp. 8-11
    • Hallmann, K.1    Durner, M.2    Sander, T.3    Steinlein, O.K.4
  • 83
    • 0036891055 scopus 로고    scopus 로고
    • Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes
    • Chioza B, Osei-Lah A, Wilkie H, Nashef L, McCormick D, et al. (2002) Suggestive evidence for association of two potassium channel genes with different idiopathic generalised epilepsy syndromes. Epilepsy Research 52: 107-116.
    • (2002) Epilepsy Research , vol.52 , pp. 107-116
    • Chioza, B.1    Osei-Lah, A.2    Wilkie, H.3    Nashef, L.4    McCormick, D.5
  • 84
    • 0031964775 scopus 로고    scopus 로고
    • DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system
    • Yamakawa K, Huo YK, Haendel MA, Hubert R, Chen XN, et al. (1998) DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system. Human Molecular Genetics 7: 227-237.
    • (1998) Human Molecular Genetics , vol.7 , pp. 227-237
    • Yamakawa, K.1    Huo, Y.K.2    Haendel, M.A.3    Hubert, R.4    Chen, X.N.5
  • 85
    • 34548612755 scopus 로고    scopus 로고
    • Dscam diversity is essential for neuronal wiring and self-recognition
    • Hattori D, Demir E, Kim HW, Viragh E, Zipursky SL, et al. (2007) Dscam diversity is essential for neuronal wiring and self-recognition. Nature 449: 223-U226.
    • (2007) Nature , vol.449 , pp. 223-226
    • Hattori, D.1    Demir, E.2    Kim, H.W.3    Viragh, E.4    Zipursky, S.L.5
  • 88
    • 0020538298 scopus 로고
    • A glial progenitor-cell that develops invitro into an astrocyte or an oligodendrocyte depending on culture-medium
    • Raff MC, Miller RH, Noble M, (1983) A glial progenitor-cell that develops invitro into an astrocyte or an oligodendrocyte depending on culture-medium. Nature 303: 390-396.
    • (1983) Nature , vol.303 , pp. 390-396
    • Raff, M.C.1    Miller, R.H.2    Noble, M.3
  • 90
    • 0034612640 scopus 로고    scopus 로고
    • Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2
    • Higuchi M, Stefan M, Single FN, Hartner J, Rozov A, et al. (2000) Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2. Nature 406: 78-81.
    • (2000) Nature , vol.406 , pp. 78-81
    • Higuchi, M.1    Stefan, M.2    Single, F.N.3    Hartner, J.4    Rozov, A.5
  • 91
    • 58949084440 scopus 로고    scopus 로고
    • Proteomic analysis of cerebrospinal fluid from patients with idiopathic temporal lobe epilepsy
    • Xiao F, Chen D, Lu Y, Xiao Z, Guan LF, et al. (2009) Proteomic analysis of cerebrospinal fluid from patients with idiopathic temporal lobe epilepsy. Brain Research 1255: 180-189.
    • (2009) Brain Research , vol.1255 , pp. 180-189
    • Xiao, F.1    Chen, D.2    Lu, Y.3    Xiao, Z.4    Guan, L.F.5
  • 93
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(T)(-Delta Delta C) method
    • Livak KJ, Schmittgen TD, (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(T)(-Delta Delta C) method. Methods 25: 402-408.
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 94
    • 40849132907 scopus 로고    scopus 로고
    • Behavioral phenotyping strategies for mutant mice
    • Crawley JN, (2008) Behavioral phenotyping strategies for mutant mice. Neuron 57: 809-818.
    • (2008) Neuron , vol.57 , pp. 809-818
    • Crawley, J.N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.