DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease
and pathologically confirmed Lewy body disease patients

J 2015

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients

LORENZO-BETANCOR, O., K. OGAKI, A.I. SOTO-ORTOLAZA, C. LABBE, R.L. WALTON et. al.

Basic information

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

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30000 3. Medical and Health Sciences

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

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

Abstract

V originále

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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Citovat

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. Available from: https://dx.doi.org/10.1111/ene.12770.

@article{1319703,
   author = {LorenzoandBetancor, O. and Ogaki, K. and SotoandOrtolaza, A.I. and Labbe, C. and Walton, R.L. and Strongosky, A.J. and van Gerpen, J.A. and Uitti, R.J. and McLean, P.J. and Springer, W. and Siuda, J. and Opala, G. and KrygowskaandWajs, A. and Barcikowska, M. and Czyzewski, K. and McCarthy, A. and Lynch, T. and Puschmann, A. and Rektorová, Irena and Sanotsky, Y. and VilarinoandGuell, C. and Farrer, M.J. and Ferman, T.J. and Boeve, B.F. and Petersen, R.C. and Parisi, J.E. and GraffandRadford, N.R. and Dickson, D.W. and Wszolek, Z.K. and Ross, O.A.},
   article_location = {Hoboken (USA)},
   article_number = {9},
   doi = {http://dx.doi.org/10.1111/ene.12770},
   keywords = {DNAJC13; genetics; Lewy body disease; Parkinson's disease},
   language = {eng},
   issn = {1351-5101},
   journal = {European Journal of Neurology},
   title = {DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients},
   url = {http://onlinelibrary.wiley.com/doi/10.1111/ene.12770/epdf},
   volume = {22},
   year = {2015}
}

TY  - JOUR
ID  - 1319703
AU  - Lorenzo-Betancor, O. - Ogaki, K. - Soto-Ortolaza, A.I. - Labbe, C. - Walton, R.L. - Strongosky, A.J. - van Gerpen, J.A. - Uitti, R.J. - McLean, P.J. - Springer, W. - Siuda, J. - Opala, G. - Krygowska-Wajs, A. - Barcikowska, M. - Czyzewski, K. - McCarthy, A. - Lynch, T. - Puschmann, A. - Rektorová, Irena - Sanotsky, Y. - Vilarino-Guell, C. - Farrer, M.J. - Ferman, T.J. - Boeve, B.F. - Petersen, R.C. - Parisi, J.E. - Graff-Radford, N.R. - Dickson, D.W. - Wszolek, Z.K. - Ross, O.A.
PY  - 2015
TI  - DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients
JF  - European Journal of Neurology
VL  - 22
IS  - 9
SP  - 1323-1325
EP  - 1323-1325
PB  - Wiley-Blackwell
SN  - 13515101
KW  - DNAJC13
KW  - genetics
KW  - Lewy body disease
KW  - Parkinson's disease
UR  - http://onlinelibrary.wiley.com/doi/10.1111/ene.12770/epdf
L2  - http://onlinelibrary.wiley.com/doi/10.1111/ene.12770/epdf
N2  - 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.
ER  -

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. \textit{European Journal of Neurology}. Hoboken (USA): Wiley-Blackwell, 2015, vol.~22, No~9, p.~1323-1325. ISSN~1351-5101. Available from: https://dx.doi.org/10.1111/ene.12770.

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