DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function

被引:56
作者
Lockhart, PJ
Lincoln, S
Hulihan, M
Kachergus, J
Wilkes, K
Bisceglio, G
Mash, DC
Farrer, MJ
机构
[1] Mayo Clin Jacksonville, Dept Neurosci, Jacksonville, FL 32224 USA
[2] Univ Miami, Dept Pathol, Miami, FL 33152 USA
关键词
D O I
10.1136/jmg.2003.011106
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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页数:6
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共 37 条
[1]   A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe [J].
Abbas, N ;
Lücking, CB ;
Ricard, S ;
Dürr, A ;
Bonifati, V ;
De Michele, G ;
Bouley, S ;
Vaughan, JR ;
Gasser, T ;
Marconi, R ;
Broussolle, E ;
Brefel-Courbon, C ;
Harhangi, BS ;
Oostra, AB ;
Fabrizio, E ;
Böhme, GA ;
Pradier, L ;
Wood, NW ;
Filla, A ;
Meco, G ;
Denefle, P ;
Agid, Y ;
Brice, A .
HUMAN MOLECULAR GENETICS, 1999, 8 (04) :567-574
[2]   Impairment of the ubiquitin-proteasome system by protein aggregation [J].
Bence, NF ;
Sampat, RM ;
Kopito, RR .
SCIENCE, 2001, 292 (5521) :1552-1555
[3]   Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset [J].
Bonifati, V ;
Breedveld, GJ ;
Squitieri, F ;
Vanacore, N ;
Brustenghi, P ;
Harhangi, BS ;
Montagna, P ;
Cannella, M ;
Fabbrini, G ;
Rizzu, P ;
van Duijn, CM ;
Oostra, BA ;
Meco, G ;
Heutink, P .
ANNALS OF NEUROLOGY, 2002, 51 (02) :253-256
[4]   Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism [J].
Bonifati, V ;
Rizzu, P ;
van Baren, MJ ;
Schaap, O ;
Breedveld, GJ ;
Krieger, E ;
Dekker, MCJ ;
Squitieri, F ;
Ibanez, P ;
Joosse, M ;
van Dongen, JW ;
Vanacore, N ;
van Swieten, JC ;
Brice, A ;
Meco, G ;
van Duijn, CM ;
Oostra, BA ;
Heutink, P .
SCIENCE, 2003, 299 (5604) :256-259
[5]   Pathways to parkinsonism [J].
Cookson, MR .
NEURON, 2003, 37 (01) :7-10
[6]   AGING AND PARKINSONS-DISEASE - SUBSTANTIA-NIGRA REGIONAL SELECTIVITY [J].
FEARNLEY, JM ;
LEES, AJ .
BRAIN, 1991, 114 :2283-2301
[7]   Diagnostic criteria for Parkinson disease [J].
Gelb, DJ ;
Oliver, E ;
Gilman, S .
ARCHIVES OF NEUROLOGY, 1999, 56 (01) :33-39
[8]   Parkinson's genetics: An embarrassment of riches [J].
Gwinn-Hardy, K ;
Farrer, M .
ANNALS OF NEUROLOGY, 2002, 51 (01) :7-8
[9]   Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations [J].
Hedrich, K ;
Marder, K ;
Harris, J ;
Kann, M ;
Lynch, T ;
Meija-Santana, H ;
Pramstaller, PP ;
Schwinger, E ;
Bressman, SB ;
Fahn, S ;
Klein, C .
NEUROLOGY, 2002, 58 (08) :1239-1246
[10]  
Hod Y, 1999, J CELL BIOCHEM, V72, P435, DOI 10.1002/(SICI)1097-4644(19990301)72:3<435::AID-JCB12>3.0.CO