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.

Základní údaje

Originální název

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

Autoři

LORENZO-BETANCOR, O. (840 Spojené státy), K. OGAKI (840 Spojené státy), A.I. SOTO-ORTOLAZA (840 Spojené státy), C. LABBE (840 Spojené státy), R.L. WALTON (840 Spojené státy), A.J. STRONGOSKY (840 Spojené státy), J.A. VAN GERPEN (840 Spojené státy), R.J. UITTI (840 Spojené státy), P.J. MCLEAN (840 Spojené státy), W. SPRINGER (840 Spojené státy), J. SIUDA (616 Polsko), G. OPALA (616 Polsko), A. KRYGOWSKA-WAJS (616 Polsko), M. BARCIKOWSKA (616 Polsko), K. CZYZEWSKI (616 Polsko), A. MCCARTHY (372 Irsko), T. LYNCH (372 Irsko), A. PUSCHMANN (752 Švédsko), Irena REKTOROVÁ (203 Česká republika, garant, domácí), Y. SANOTSKY (804 Ukrajina), C. VILARINO-GUELL (124 Kanada), M.J. FARRER (124 Kanada), T.J. FERMAN (840 Spojené státy), B.F. BOEVE (840 Spojené státy), R.C. PETERSEN (840 Spojené státy), J.E. PARISI (840 Spojené státy), N.R. GRAFF-RADFORD (840 Spojené státy), D.W. DICKSON (840 Spojené státy), Z.K. WSZOLEK (840 Spojené státy) a O.A. ROSS (840 Spojené státy)

Vydání

European Journal of Neurology, Hoboken (USA), Wiley-Blackwell, 2015, 1351-5101

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30000 3. Medical and Health Sciences

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.956

Kód RIV

RIV/00216224:14740/15:00085056

Organizační jednotka

Středoevropský technologický institut

DOI

http://dx.doi.org/10.1111/ene.12770

UT WoS

000359863000014

Klíčová slova anglicky

DNAJC13; genetics; Lewy body disease; Parkinson's disease

Štítky

OA, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 7. 3. 2016 15:03, Olga Křížová

Anotace

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.

Přiložené soubory

1319703_DNAJC13_p.Asn855Ser.pdf

Požádat o autorskou verzi souboru

ZVV_2015_141_1319703_DNAJC13.pdf

Požádat o autorskou verzi souboru

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 a 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, roč. 22, č. 9, s. 1323-1325. ISSN 1351-5101. Dostupné z: 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 a 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, roč.~22, č.~9, s.~1323-1325. ISSN~1351-5101. Dostupné z: https://dx.doi.org/10.1111/ene.12770.

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