Molecular genetic pathways in Parkinson's disease: a review

被引：27

作者：

Jain, S

Wood, NW

Healy, DG

机构：

[1] Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[2] NIA, NIH, Bethesda, MD 20892 USA

[3] UCL, Reta Lila Weston Inst Neurol Sci, London W1T 4JF, England

来源：

CLINICAL SCIENCE | 2005年 / 109卷 / 04期

关键词：

alpha-synuclein; dardarin; genetic basis; Lewy body; Mendelian genetics; parkin; Parkinson's disease;

D O I：

10.1042/CS20050106

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

Major progress has been made in the last decade in understanding the genetic basis of PD (Parkinson's disease) with five genes unequivocally associated with disease. As a result, multiple pathways have been implicated in the pathogenesis of PD, including proteasome impairment and mitochondrial dysfunction. Although Mendelian genetics has been successful in establishing a genetic predisposition for familial PD, this has not been reiterated in the sporadic form. In fact no genetic factors have been unequivocally associated with increased risk for sporadic PD. The difficulty in identifying susceptibility factors in PD has not only been because of numerous underpowered studies, but we have been unable to dissect out the genetic component in a multifactorial disease. This review aims to summarize the genetic findings within PD.

引用

页码：355 / 364

页数：10

共 124 条

[61] Discovery of inhibitors that elucidate the role of UCH-L1 activity in the H1299 lung cancer cell line [J].

Liu, YC ;

Lashuel, HA ;

Choi, S ;

Xing, XC ;

Case, A ;

Ni, J ;

Yeh, LA ;

Cuny, GD ;

Stein, RL ;

Lansbury, PT .

CHEMISTRY & BIOLOGY, 2003, 10 (09) :837-846

[62] The UCH-L1 gene encodes two opposing enzymatic activities that affect α-synuclein degradation and Parkinson's disease susceptibility [J].

Liu, YC ;

Fallon, L ;

Lashuel, HA ;

Liu, ZH ;

Lansbury, PT .

CELL, 2002, 111 (02) :209-218

[63] How much phenotypic variation can be attributed to parkin genotype? [J].

Lohmann, E ;

Periquet, M ;

Bonifati, V ;

Wood, NW ;

De Michele, G ;

Bonnet, AM ;

Fraix, V ;

Broussolle, E ;

Horstink, MWIM ;

Vidailhet, M ;

Verpillat, P ;

Gasser, T ;

Nicholl, D ;

Teive, H ;

Raskin, S ;

Rascol, O ;

Destée, A ;

Ruberg, M ;

Gasparini, F ;

Meco, G ;

Agid, Y ;

Durr, A ;

Brice, A .

ANNALS OF NEUROLOGY, 2003, 54 (02) :176-185

[64] Glucocerebrosidase mutations in subjects with parkinsonism [J].

Lwin, A ;

Orvisky, E ;

Goker-Alpan, O ;

LaMarca, ME ;

Sidransky, E .

MOLECULAR GENETICS AND METABOLISM, 2004, 81 (01) :70-73

[65]

Machaczka M, 1999, AM J HEMATOL, V61, P216, DOI 10.1002/(SICI)1096-8652(199907)61:3<216::AID-AJH12>3.3.CO

[66]

2-2

[67] Positional cloning by linkage disequilibrium [J].

Maniatis, N ;

Collins, A ;

Gibson, J ;

Zhang, WH ;

Tapper, W ;

Morton, NE .

AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (05) :846-855

[68] The herbicide paraquat causes up-regulation and aggregation of α-synuclein in mice -: Paraquat and α-synuclein [J].

Manning-Bog, AB ;

McCormack, AL ;

Li, J ;

Uversky, VN ;

Fink, AL ;

Di Monte, DA .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2002, 277 (03) :1641-1644

[69] Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease [J].

Maraganore, DM ;

Farrer, MJ ;

Hardy, JA ;

Lincoln, SJ ;

McDonnell, SK ;

Rocca, WA .

NEUROLOGY, 1999, 53 (08) :1858-1860

[70] UCHL1 is a Parkinson's disease susceptibility gene [J].

Maraganore, DM ;

Lesnick, TG ;

Elbaz, A ;

Chartier-Harlin, MC ;

Gasser, T ;

Krüger, R ;

Hattori, N ;

Mellick, GD ;

Quattrone, A ;

Satoh, J ;

Toda, T ;

Wang, J ;

Ioannidis, JPA ;

de Andrade, M ;

Rocca, WA .

ANNALS OF NEUROLOGY, 2004, 55 (04) :512-521

← 2 3 4 5 6 7 8 9 10 11 →