메뉴 건너뛰기




Volumn 103, Issue , 2012, Pages 555-559

Spinocerebellar ataxia type 14

Author keywords

[No Author keywords available]

Indexed keywords


EID: 79961131690     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-51892-7.00036-X     Document Type: Chapter
Times cited : (26)

References (37)
  • 1
    • 0027787664 scopus 로고
    • PKC gamma mutant mice exhibit mild deficits in spatial and contextual learning
    • Abeliovich A., Paylor R., Chen C., et al. PKC gamma mutant mice exhibit mild deficits in spatial and contextual learning. Cell 1993, 75:1263-1271.
    • (1993) Cell , vol.75 , pp. 1263-1271
    • Abeliovich, A.1    Paylor, R.2    Chen, C.3
  • 2
    • 27644562111 scopus 로고    scopus 로고
    • A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14
    • Alonso I., Costa C., Coutinho P., et al. A novel H101Q mutation causes PKCγ loss in spinocerebellar ataxia type 14. J Hum Genet 2005, 50:523-529.
    • (2005) J Hum Genet , vol.50 , pp. 523-529
    • Alonso, I.1    Costa, C.2    Coutinho, P.3
  • 3
    • 70350754464 scopus 로고    scopus 로고
    • Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin
    • Asai H., Hirano M., Shimada K., et al. Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. Hum Mol Genet 2009, 18:3533-3543.
    • (2009) Hum Mol Genet , vol.18 , pp. 3533-3543
    • Asai, H.1    Hirano, M.2    Shimada, K.3
  • 4
    • 55049083176 scopus 로고    scopus 로고
    • A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
    • Bassuk A.G., Wallace R.H., Buhr A., et al. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet 2008, 83:572-581.
    • (2008) Am J Hum Genet , vol.83 , pp. 572-581
    • Bassuk, A.G.1    Wallace, R.H.2    Buhr, A.3
  • 5
    • 0036340697 scopus 로고    scopus 로고
    • A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter
    • Brkanac Z., Bylenok L., Fernandez M., et al. A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. Arch Neurol 2002, 59:1291-1295.
    • (2002) Arch Neurol , vol.59 , pp. 1291-1295
    • Brkanac, Z.1    Bylenok, L.2    Fernandez, M.3
  • 6
    • 0037385006 scopus 로고    scopus 로고
    • Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia
    • Chen D.H., Brkanac Z., Verlinde C.L., et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. Am J Hum Genet 2003, 72:839-849.
    • (2003) Am J Hum Genet , vol.72 , pp. 839-849
    • Chen, D.H.1    Brkanac, Z.2    Verlinde, C.L.3
  • 8
    • 20144388593 scopus 로고    scopus 로고
    • The clinical and genetic spectrum of spinocerebellar ataxia 14
    • Chen D.H., Cimino P.J., Ranum L.P., et al. The clinical and genetic spectrum of spinocerebellar ataxia 14. Neurology 2005, 64:1258-1260.
    • (2005) Neurology , vol.64 , pp. 1258-1260
    • Chen, D.H.1    Cimino, P.J.2    Ranum, L.P.3
  • 9
    • 0036229301 scopus 로고    scopus 로고
    • Individual differences in spatial memory among aged rats are related to hippocampal pkcgamma immunoreactivity
    • Colombo P.J., Gallagher M. Individual differences in spatial memory among aged rats are related to hippocampal pkcgamma immunoreactivity. Hippocampus 2002, 12:285-289.
    • (2002) Hippocampus , vol.12 , pp. 285-289
    • Colombo, P.J.1    Gallagher, M.2
  • 10
    • 33748977606 scopus 로고    scopus 로고
    • Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia
    • Dalski A., Mitulla B., Bürk K., et al. Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. J Neurol 2006, 253:1111-1112.
    • (2006) J Neurol , vol.253 , pp. 1111-1112
    • Dalski, A.1    Mitulla, B.2    Bürk, K.3
  • 11
    • 28144460707 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene
    • Fahey M.C., Knight M.A., Shaw J.H., et al. Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. J Neurol Neurosurg Psychiatry 2005, 76:1720-1722.
    • (2005) J Neurol Neurosurg Psychiatry , vol.76 , pp. 1720-1722
    • Fahey, M.C.1    Knight, M.A.2    Shaw, J.H.3
  • 12
    • 77952888631 scopus 로고    scopus 로고
    • Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: Trunk tremor, myoclonus, and dystonia
    • Foncke E.M., Beukers R.J., Tijssen C.C., et al. Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: Trunk tremor, myoclonus, and dystonia. Parkinsonism Relat Disord 2010, 16:288-289.
    • (2010) Parkinsonism Relat Disord , vol.16 , pp. 288-289
    • Foncke, E.M.1    Beukers, R.J.2    Tijssen, C.C.3
  • 13
    • 33750348973 scopus 로고    scopus 로고
    • Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4
    • Hiramoto K., Kawakami H., Inoue K., et al. Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. Mov Disord 2006, 21:1355-1360.
    • (2006) Mov Disord , vol.21 , pp. 1355-1360
    • Hiramoto, K.1    Kawakami, H.2    Inoue, K.3
  • 14
    • 27644586218 scopus 로고    scopus 로고
    • New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14
    • Klebe S., Durr A., Rentschler A., et al. New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. Ann Neurol 2005, 58:720-729.
    • (2005) Ann Neurol , vol.58 , pp. 720-729
    • Klebe, S.1    Durr, A.2    Rentschler, A.3
  • 15
    • 34347358526 scopus 로고    scopus 로고
    • Protein kinase C gamma mutations in the C1B domain cause caspase-3-linked apoptosis in lens epithelial cells through gap junctions
    • Lin D., Shanks D., Prakash O., et al. Protein kinase C gamma mutations in the C1B domain cause caspase-3-linked apoptosis in lens epithelial cells through gap junctions. Exp Eye Res 2007, 85:113-122.
    • (2007) Exp Eye Res , vol.85 , pp. 113-122
    • Lin, D.1    Shanks, D.2    Prakash, O.3
  • 16
    • 0030881680 scopus 로고    scopus 로고
    • Preserved acute pain and reduced neuropathic pain in mice lacking PKCgamma
    • Malmberg A.B., Chen C., Tonegawa S., et al. Preserved acute pain and reduced neuropathic pain in mice lacking PKCgamma. Science 1997, 278:279-283.
    • (1997) Science , vol.278 , pp. 279-283
    • Malmberg, A.B.1    Chen, C.2    Tonegawa, S.3
  • 17
    • 58349116613 scopus 로고    scopus 로고
    • Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG
    • Miura S., Nakagawara H., Kaida H., et al. Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. Clin Neurol Neurosurg 2009, 111:211-215.
    • (2009) Clin Neurol Neurosurg , vol.111 , pp. 211-215
    • Miura, S.1    Nakagawara, H.2    Kaida, H.3
  • 18
    • 0025131635 scopus 로고
    • Immunocytochemical localization of protein kinase C subspecies in the rat spinal cord: light and electron microscopic study
    • Mori M., Kose A., Tsujino T., et al. Immunocytochemical localization of protein kinase C subspecies in the rat spinal cord: light and electron microscopic study. J Comp Neurol 1990, 299:167-177.
    • (1990) J Comp Neurol , vol.299 , pp. 167-177
    • Mori, M.1    Kose, A.2    Tsujino, T.3
  • 19
    • 33751299235 scopus 로고    scopus 로고
    • A Japanese case of SCA14 with the Gly128Asp mutation
    • Morita H., Yoshida K., Suzuki K., et al. A Japanese case of SCA14 with the Gly128Asp mutation. J Hum Genet 2006, 51:1118-1121.
    • (2006) J Hum Genet , vol.51 , pp. 1118-1121
    • Morita, H.1    Yoshida, K.2    Suzuki, K.3
  • 20
    • 0035413601 scopus 로고    scopus 로고
    • Protein kinase C: structural and spatial regulation by phosphorylation, cofactors, and macromolecular interactions
    • Newton A.C. Protein kinase C: structural and spatial regulation by phosphorylation, cofactors, and macromolecular interactions. Chem Rev 2001, 101:2353-2364.
    • (2001) Chem Rev , vol.101 , pp. 2353-2364
    • Newton, A.C.1
  • 21
    • 35348976623 scopus 로고    scopus 로고
    • Codon 101 of PRKCG, a preferential mutation site in SCA14
    • Nolte D., Klebe S., Baron R., et al. Codon 101 of PRKCG, a preferential mutation site in SCA14. Mov Disord 2007, 22:1831-1832.
    • (2007) Mov Disord , vol.22 , pp. 1831-1832
    • Nolte, D.1    Klebe, S.2    Baron, R.3
  • 22
    • 33847739372 scopus 로고    scopus 로고
    • Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family
    • Nolte D., Landendinger M., Schmitt E., et al. Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. Mov Disord 2007, 22:265-267.
    • (2007) Mov Disord , vol.22 , pp. 265-267
    • Nolte, D.1    Landendinger, M.2    Schmitt, E.3
  • 23
    • 0023874148 scopus 로고
    • Distribution of protein kinase C-like immunoreactive neurons in rat brain
    • Saito N., Kikkawa U., Nishizuka Y., et al. Distribution of protein kinase C-like immunoreactive neurons in rat brain. J Neurosci 1988, 8:369-382.
    • (1988) J Neurosci , vol.8 , pp. 369-382
    • Saito, N.1    Kikkawa, U.2    Nishizuka, Y.3
  • 24
    • 0037012451 scopus 로고    scopus 로고
    • Altered dendritic development of cerebellar Purkinje cells in slice cultures from protein kinase Cgamma-deficient mice
    • Schrenk K., Kapfhammer J.P., Metzger F. Altered dendritic development of cerebellar Purkinje cells in slice cultures from protein kinase Cgamma-deficient mice. Neuroscience 2002, 110:675-689.
    • (2002) Neuroscience , vol.110 , pp. 675-689
    • Schrenk, K.1    Kapfhammer, J.P.2    Metzger, F.3
  • 25
    • 23844524453 scopus 로고    scopus 로고
    • Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death
    • Seki T., Adachi N., Ono Y., et al. Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death. J Biol Chem 2005, 280:29096-29106.
    • (2005) J Biol Chem , vol.280 , pp. 29096-29106
    • Seki, T.1    Adachi, N.2    Ono, Y.3
  • 26
    • 36248998804 scopus 로고    scopus 로고
    • Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress
    • Seki T., Takahashi H., Adachi N., et al. Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress. Eur J Neurosci 2007, 26:3126-3140.
    • (2007) Eur J Neurosci , vol.26 , pp. 3126-3140
    • Seki, T.1    Takahashi, H.2    Adachi, N.3
  • 27
    • 58149490769 scopus 로고    scopus 로고
    • Mutant gammapkc found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells
    • Seki T., Shimahara T., Yamamoto K., et al. Mutant gammapkc found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. Neurobiol Dis 2009, 33:260-273.
    • (2009) Neurobiol Dis , vol.33 , pp. 260-273
    • Seki, T.1    Shimahara, T.2    Yamamoto, K.3
  • 28
    • 4043178555 scopus 로고    scopus 로고
    • Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14
    • Stevanin G., Hahn V., Lohmann E., et al. Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. Arch Neurol 2004, 61:1242-1248.
    • (2004) Arch Neurol , vol.61 , pp. 1242-1248
    • Stevanin, G.1    Hahn, V.2    Lohmann, E.3
  • 29
    • 0028216874 scopus 로고
    • The protein kinase C family for neuronal signaling
    • Tanaka C., Nishizuka Y. The protein kinase C family for neuronal signaling. Annu Rev Neurosci 1994, 17:551-567.
    • (1994) Annu Rev Neurosci , vol.17 , pp. 551-567
    • Tanaka, C.1    Nishizuka, Y.2
  • 30
    • 0346734156 scopus 로고    scopus 로고
    • Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family
    • van de Warrenburg B.P., Verbeek D.S., Piersma S.J., et al. Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. Neurology 2003, 61:1760-1765.
    • (2003) Neurology , vol.61 , pp. 1760-1765
    • van de Warrenburg, B.P.1    Verbeek, D.S.2    Piersma, S.J.3
  • 31
    • 20344370767 scopus 로고    scopus 로고
    • Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population
    • Verbeek D.S., Warrenburg B.P., Hennekam F.A., et al. Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. Hum Genet 2005, 117:88-91.
    • (2005) Hum Genet , vol.117 , pp. 88-91
    • Verbeek, D.S.1    Warrenburg, B.P.2    Hennekam, F.A.3
  • 32
    • 13544251405 scopus 로고    scopus 로고
    • Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting
    • Verbeek D.S., Knight M.A., Harmison G.G., et al. Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. Brain 2005, 128:436-442.
    • (2005) Brain , vol.128 , pp. 436-442
    • Verbeek, D.S.1    Knight, M.A.2    Harmison, G.G.3
  • 33
    • 34347239706 scopus 로고    scopus 로고
    • PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype
    • Visser J.E., Bloem B.R., van de Warrenburg B.P. PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. Mov Disord 2007, 22:1024-1026.
    • (2007) Mov Disord , vol.22 , pp. 1024-1026
    • Visser, J.E.1    Bloem, B.R.2    van de Warrenburg, B.P.3
  • 34
    • 33746875548 scopus 로고    scopus 로고
    • Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype
    • Vlak M.H., Sinke R.J., Rabelink G.M., et al. Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. Mov Disord 2006, 21:1025-1028.
    • (2006) Mov Disord , vol.21 , pp. 1025-1028
    • Vlak, M.H.1    Sinke, R.J.2    Rabelink, G.M.3
  • 35
    • 37549024558 scopus 로고    scopus 로고
    • Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene
    • Wieczorek S., Arning L., Gizewski E.R., et al. Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. Mov Disord 2007, 22:2135-2136.
    • (2007) Mov Disord , vol.22 , pp. 2135-2136
    • Wieczorek, S.1    Arning, L.2    Gizewski, E.R.3
  • 36
    • 0346754906 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma
    • Yabe I., Sasaki H., Chen D.H., et al. Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. Arch Neurol 2003, 60:1749-1751.
    • (2003) Arch Neurol , vol.60 , pp. 1749-1751
    • Yabe, I.1    Sasaki, H.2    Chen, D.H.3
  • 37
    • 0033866835 scopus 로고    scopus 로고
    • A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cm interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter
    • Yamashita I., Sasaki H., Yabe I., et al. A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cm interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. Ann Neurol 2000, 48:156-163.
    • (2000) Ann Neurol , vol.48 , pp. 156-163
    • Yamashita, I.1    Sasaki, H.2    Yabe, I.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.