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

@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. Online. \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. [citováno 2024-04-24]