The LRRK2-G2019S mutation:: opening a novel era in Parkinson's disease genetics

被引：48

作者：

Bonifati, Vincenzo ^{[1
]}

机构：

[1] Erasmus MC, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2006年 / 14卷 / 10期

关键词：

D O I：

10.1038/sj.ejhg.5201695

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

引用

页码：1061 / 1062

页数：2

共 19 条

[1] Unraveling the pathogenesis of Parkinson's disease - the contribution of monogenic forms [J].

Bonifati, V ;

Oostra, BA ;

Heutink, P .

CELLULAR AND MOLECULAR LIFE SCIENCES, 2004, 61 (14) :1729-1750

[2] G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort [J].

Bras, JM ;

Guerreiro, RJ ;

Ribeiro, MH ;

Januario, C ;

Morgadinho, A ;

Oliveira, CR ;

Cunha, L ;

Hardy, J ;

Singleton, A .

MOVEMENT DISORDERS, 2005, 20 (12) :1653-1655

[3]

Di Fonzo A, 2005, LANCET, V365, P412

[4] Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease [J].

Di Fonzo, A ;

Tassorelli, C ;

De Mari, M ;

Chien, HF ;

Ferreira, J ;

Rohé, CF ;

Riboldazzi, G ;

Antonini, A ;

Albani, G ;

Mauro, A ;

Marconi, R ;

Abbruzzese, G ;

Lopiano, L ;

Fincati, E ;

Guidi, M ;

Marini, P ;

Stocchi, F ;

Onofrj, M ;

Toni, V ;

Tinazzi, M ;

Fabbrini, G ;

Lamberti, P ;

Vanacore, N ;

Meco, G ;

Leitner, P ;

Uitti, RJ ;

Wszolek, ZK ;

Gasser, T ;

Simons, EJ ;

Breedveld, GJ ;

Goldwurm, S ;

Pezzoli, G ;

Sampaio, C ;

Barbosa, E ;

Martignoni, E ;

Oostra, BA ;

Bonifati, V .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (03) :322-331

[5] Common LRRK2 mutation in idiopathic Parkinson's disease [J].

Gilks, WP ;

Abou-Sleiman, PM ;

Gandhi, S ;

Jain, S ;

Singleton, A ;

Lees, AJ ;

Shaw, K ;

Bhatia, KP ;

Bonifati, V ;

Quinn, NP ;

Lynch, J ;

Healy, DG ;

Holton, JL ;

Revesz, T ;

Wood, NW .

LANCET, 2005, 365 (9457) :415-416

[6] The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity [J].

Gloeckner, CJ ;

Kinkl, N ;

Schumacher, A ;

Braun, RJ ;

O'Neill, E ;

Meitinger, T ;

Kolch, W ;

Prokisch, H ;

Ueffing, M .

HUMAN MOLECULAR GENETICS, 2006, 15 (02) :223-232

[7] The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor -: art. no. e65 [J].

Goldwurm, S ;

Di Fonzo, A ;

Simons, EJ ;

Rohé, CF ;

Zini, M ;

Canesi, M ;

Tesei, S ;

Zecchinelli, A ;

Antonini, A ;

Mariani, C ;

Meucci, N ;

Sacilotto, G ;

Sironi, F ;

Salani, G ;

Ferreira, J ;

Chien, HF ;

Fabrizio, E ;

Vanacore, N ;

Dalla Libera, A ;

Stocchi, F ;

Diroma, C ;

Lamberti, P ;

Sampaio, C ;

Meco, G ;

Barbosa, E ;

Bertoli-Avella, AM ;

Breedveld, GJ ;

Oostra, BA ;

Pezzoli, G ;

Bonifati, V .

JOURNAL OF MEDICAL GENETICS, 2005, 42 (11) :e65

[8] Clinical and positron emission tomography of Parkinson's disease caused by LRRK2 [J].

Hernandez, DG ;

Paisán-Ruíz, C ;

McInerney-Leo, A ;

Jain, S ;

Meyer-Lindenberg, A ;

Evans, EW ;

Berman, KF ;

Johnson, J ;

Auburger, G ;

Schäffer, AA ;

Lopez, GJ ;

Nussbaum, RL ;

Singleton, AB .

ANNALS OF NEUROLOGY, 2005, 57 (03) :453-456

[9] LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease [J].

Infante, J ;

Rodríguez, E ;

Combarros, O ;

Mateo, I ;

Fontalba, A ;

Pascual, J ;

Oterino, A ;

Polo, JM ;

Leno, C ;

Berciano, J .

NEUROSCIENCE LETTERS, 2006, 395 (03) :224-226

[10] Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism:: Evidence of a common founder across European populations [J].

Kachergus, J ;

Mata, IF ;

Hulihan, M ;

Taylor, JP ;

Lincoln, S ;

Aasly, J ;

Gibson, JM ;

Ross, OA ;

Lynch, T ;

Wiley, J ;

Payami, H ;

Nutt, J ;

Maraganore, DM ;

Czyzewski, K ;

Styczynska, M ;

Wszolek, ZK ;

Farrer, MJ ;

Toft, M .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (04) :672-680

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