LORENZO-BETANCOR, O., K. OGAKI, A.I. SOTO-ORTOLAZA, C. LABBE, R.L. WALTON, A.J. STRONGOSKY, J.A. VAN GERPEN, R.J. UITTI, P.J. MCLEAN, W. SPRINGER, J. SIUDA, G. OPALA, A. KRYGOWSKA-WAJS, M. BARCIKOWSKA, K. CZYZEWSKI, A. MCCARTHY, T. LYNCH, A. PUSCHMANN, Irena REKTOROVÁ, Y. SANOTSKY, C. VILARINO-GUELL, M.J. FARRER, T.J. FERMAN, B.F. BOEVE, R.C. PETERSEN, J.E. PARISI, N.R. GRAFF-RADFORD, D.W. DICKSON, Z.K. WSZOLEK and O.A. ROSS. DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients. European Journal of Neurology, Hoboken (USA): Wiley-Blackwell, 2015, vol. 22, No 9, p. 1323-1325. ISSN 1351-5101. doi:10.1111/ene.12770.
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Original name DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients
Authors LORENZO-BETANCOR, O. (840 United States of America), K. OGAKI (840 United States of America), A.I. SOTO-ORTOLAZA (840 United States of America), C. LABBE (840 United States of America), R.L. WALTON (840 United States of America), A.J. STRONGOSKY (840 United States of America), J.A. VAN GERPEN (840 United States of America), R.J. UITTI (840 United States of America), P.J. MCLEAN (840 United States of America), W. SPRINGER (840 United States of America), J. SIUDA (616 Poland), G. OPALA (616 Poland), A. KRYGOWSKA-WAJS (616 Poland), M. BARCIKOWSKA (616 Poland), K. CZYZEWSKI (616 Poland), A. MCCARTHY (372 Ireland), T. LYNCH (372 Ireland), A. PUSCHMANN (752 Sweden), Irena REKTOROVÁ (203 Czech Republic, guarantor, belonging to the institution), Y. SANOTSKY (804 Ukraine), C. VILARINO-GUELL (124 Canada), M.J. FARRER (124 Canada), T.J. FERMAN (840 United States of America), B.F. BOEVE (840 United States of America), R.C. PETERSEN (840 United States of America), J.E. PARISI (840 United States of America), N.R. GRAFF-RADFORD (840 United States of America), D.W. DICKSON (840 United States of America), Z.K. WSZOLEK (840 United States of America) and O.A. ROSS (840 United States of America).
Edition European Journal of Neurology, Hoboken (USA), Wiley-Blackwell, 2015, 1351-5101.
Other information
Original language English
Type of outcome article in a journal
Field of Study 30000 3. Medical and Health Sciences
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 3.956
RIV identification code RIV/00216224:14740/15:00085056
Organization unit Central European Institute of Technology
Doi http://dx.doi.org/10.1111/ene.12770
UT WoS 000359863000014
Keywords in English DNAJC13; genetics; Lewy body disease; Parkinson's disease
Tags OA, podil, rivok
Tags International impact, Reviewed
Changed by Changed by: Olga Křížová, učo 56639. Changed: 7/3/2016 15:03.
Abstract
BackgroundRecently, a novel mutation in exon 24 of DNAJC13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson's disease (PD) in a multi-incident Mennonite family. MethodsIn the present study the mutation containing exon of the DNAJC13 gene has been sequenced in a Caucasian series consisting of 1938 patients with clinical PD and 838 with pathologically diagnosed Lewy body disease (LBD). ResultsOur sequence analysis did not identify any coding variants in exon 24 of DNAJC13. Two previously described variants in intron 23 (rs200204728 and rs2369796) were observed. ConclusionOur results indicate that the region surrounding the DNAJC13 p.Asn855Ser substitution is highly conserved and mutations in this exon are not a common cause of PD or LBD among Caucasian populations.
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