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SCA14 mutation V138E leads to partly unfolded PKCγ associated with an exposed C-terminus, altered kinetics, phosphorylation and enhanced insolubilization.
Jezierska J, Goedhart J, Kampinga HH, Reits EA, Verbeek DS. Jezierska J, et al. Among authors: verbeek ds. J Neurochem. 2014 Mar;128(5):741-51. doi: 10.1111/jnc.12491. Epub 2013 Nov 13. J Neurochem. 2014. PMID: 24134140
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.
van de Warrenburg BP, Verbeek DS, Piersma SJ, Hennekam FA, Pearson PL, Knoers NV, Kremer HP, Sinke RJ. van de Warrenburg BP, et al. Among authors: verbeek ds. Neurology. 2003 Dec 23;61(12):1760-5. doi: 10.1212/01.wnl.0000098883.79421.73. Neurology. 2003. PMID: 14694043
Mapping of the SCA23 locus involved in autosomal dominant cerebellar ataxia to chromosome region 20p13-12.3.
Verbeek DS, van de Warrenburg BP, Wesseling P, Pearson PL, Kremer HP, Sinke RJ. Verbeek DS, et al. Brain. 2004 Nov;127(Pt 11):2551-7. doi: 10.1093/brain/awh276. Epub 2004 Aug 11. Brain. 2004. PMID: 15306549
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
Verbeek DS, Warrenburg BP, Hennekam FA, Dooijes D, Ippel PF, Verschuuren-Bemelmans CC, Kremer HP, Sinke RJ. Verbeek DS, et al. Hum Genet. 2005 Jun;117(1):88-91. doi: 10.1007/s00439-005-1278-z. Epub 2005 Apr 20. Hum Genet. 2005. PMID: 15841389
PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling.
Verbeek DS, Goedhart J, Bruinsma L, Sinke RJ, Reits EA. Verbeek DS, et al. J Cell Sci. 2008 Jul 15;121(Pt 14):2339-49. doi: 10.1242/jcs.027698. Epub 2008 Jun 24. J Cell Sci. 2008. PMID: 18577575
Spinocerebellar ataxia type 23: a genetic update.
Verbeek DS. Verbeek DS. Cerebellum. 2009 Jun;8(2):104-7. doi: 10.1007/s12311-008-0085-1. Epub 2008 Dec 17. Cerebellum. 2009. PMID: 19089525 Free PMC article.
Genetics of the dominant ataxias.
Verbeek DS, van de Warrenburg BP. Verbeek DS, et al. Semin Neurol. 2011 Nov;31(5):461-9. doi: 10.1055/s-0031-1299785. Epub 2012 Jan 21. Semin Neurol. 2011. PMID: 22266884 Review.
Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19.
Duarri A, Jezierska J, Fokkens M, Meijer M, Schelhaas HJ, den Dunnen WF, van Dijk F, Verschuuren-Bemelmans C, Hageman G, van de Vlies P, Küsters B, van de Warrenburg BP, Kremer B, Wijmenga C, Sinke RJ, Swertz MA, Kampinga HH, Boddeke E, Verbeek DS. Duarri A, et al. Among authors: verbeek ds. Ann Neurol. 2012 Dec;72(6):870-80. doi: 10.1002/ana.23700. Ann Neurol. 2012. PMID: 23280838
Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases.
Jezierska J, Stevanin G, Watanabe H, Fokkens MR, Zagnoli F, Kok J, Goas JY, Bertrand P, Robin C, Brice A, Bakalkin G, Durr A, Verbeek DS. Jezierska J, et al. Among authors: verbeek ds. J Neurol. 2013 Jul;260(7):1807-12. doi: 10.1007/s00415-013-6882-6. Epub 2013 Mar 8. J Neurol. 2013. PMID: 23471613
The L450F [Corrected] mutation in KCND3 brings spinocerebellar ataxia and Brugada syndrome closer together.
Duarri A, Nibbeling E, Fokkens MR, Meijer M, Boddeke E, Lagrange E, Stevanin G, Brice A, Durr A, Verbeek DS. Duarri A, et al. Among authors: verbeek ds. Neurogenetics. 2013 Nov;14(3-4):257-8. doi: 10.1007/s10048-013-0370-0. Epub 2013 Aug 21. Neurogenetics. 2013. PMID: 23963749 No abstract available.
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