| 1 | PRKCG, SCA14
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| Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14.
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| Ji J, Hassler ML, Shimobayashi E, Paka N, Streit R, Kapfhammer JP.
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| Neurobiol Dis 70:1-11. doi: 10.1016/j.nbd.2014.06.002. Epub 2014 Jun 14.
2014
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| 2 | PRKCG, SCA14
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| Deregulation of the actin cytoskeleton and macropinocytosis in response to phorbol ester by the mutant protein kinase C gamma that causes spinocerebellar ataxia type 14.
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| Yamamoto K, Seki T, Yamamoto H, Adachi N, Tanaka S, Hide I, Saito N, Sakai N.
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| Front Physiol 5:126. doi: 10.3389/fphys.2014.00126. eCollection 2014.
2014
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| 3 | PRKCG, SCA14
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| Mutant PKCγ in spinocerebellar ataxia type 14 disrupts synapse elimination and long-term depression in Purkinje cells in vivo.
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| Shuvaev AN, Horiuchi H, Seki T, Goenawan H, Irie T, Iizuka A, Sakai N, Hirai H.
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| J Neurosci 31(40):14324-34. doi: 10.1523/JNEUROSCI.5530-10.2011.
2011
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| 4 | PRKCG, SCA14
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| Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin.
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| Asai H, Hirano M, Shimada K, Kiriyama T, Furiya Y, Ikeda M, Iwamoto T, Mori T, Nishinaka K, Konishi N, Udaka F, Ueno S.
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| Hum Mol Genet 18(19):3533-43. doi: 10.1093/hmg/ddp298. Epub 2009 Jun 26.
2009
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| 5 | SCA14
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| Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
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| Verbeek DS, Warrenburg BP, Hennekam FA, Dooijes D, Ippel PF, Verschuuren-Bemelmans CC, Kremer HP, Sinke RJ.
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| Hum Genet 117(1):88-91. Epub 2005 Apr 20. 2005
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| 6 | SCA14, PRKCG
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| The clinical and genetic spectrum of spinocerebellar ataxia 14.
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| Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD.
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| Neurology 64(7):1258-60. 2005
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| 7 | SCA14
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| Spinocerebellar ataxia type 14: opening a new door in dominant ataxia research?
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| Pandolfo M, van de Warrenburg BP.
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| Neurology 64(7):1113-4. No abstract available. 2005
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| 8 | PRKCG,SCA14
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| A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.
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| Alonso I, Costa C, Gomes A, Ferro A, Seixas AI, Silva S, Cruz VT, Coutinho P, Sequeiros J, Silveira I.
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| J Hum Genet 50(10):523-9. Epub 2005 Sep 28. 2005
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| 9 | SCA14, PRKCG
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| Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14.
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| Stevanin G, Hahn V, Lohmann E, Bouslam N, Gouttard M, Soumphonphakdy C, Welter ML, Ollagnon-Roman E, Lemainque A, Ruberg M, Brice A, Durr A.
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| Arch Neurol 61(8):1242-8. 2004
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| 10 | PRKCG, SCA14
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| Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
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| Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH.
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| Am J Hum Genet 72(4):839-49. Epub 2003 Mar 17. 2003
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| 11 | SCA14
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| A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter.
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| Brkanac Z, Bylenok L, Fernandez M, Matsushita M, Lipe H, Wolff J, Nochlin D, Raskind WH, Bird TD.
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| Arch Neurol 59(8):1291-5. Erratum in: Arch Neurol 2002 Dec;59(12):1972. 2002
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| 12 | SCA14
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| 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.
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| Yamashita I, Sasaki H, Yabe I, Fukazawa T, Nogoshi S, Komeichi K, Takada A, Shiraishi K, Takiyama Y, Nishizawa M, Kaneko J, Tanaka H, Tsuji S, Tashiro K.
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| Ann Neurol 48(2):156-63. 2000
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