The ubiquitin pathway in Parkinson's disease

被引：1221

作者：

Leroy, E

Boyer, R

Auburger, G

Leube, B

Ulm, G

Mezey, E

Harta, G

Brownstein, MJ

Jonnalagada, S

Chernova, T

Dehejia, A

Lavedan, C

Gasser, T

Steinbach, PJ

Wilkinson, KD

Polymeropoulos, MH

机构：

[1] NHGRI, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA

[2] Univ Hosp Dusseldorf, Dept Neurol, D-40001 Dusseldorf, Germany

[3] Paracelcus Elena Klin, D-34128 Kassel, Germany

[4] NINDS, Basic Neurosci Program, NIH, Bethesda, MD 20892 USA

[5] NIMH, Genet Sect, NIH, Bethesda, MD 20892 USA

[6] Emory Univ, Sch Med, Dept Biochem, Atlanta, GA 30322 USA

[7] Univ Munich, Klinikum Grosshadern, Neurol Klin, D-8000 Munich, Germany

[8] NIH, Ctr Mol Modeling, CIT, Bethesda, MD 20892 USA

来源：

NATURE | 1998年 / 395卷 / 6701期

关键词：

D O I：

10.1038/26652

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Mutations of the α-synuclein gene1,2 have been identified in some familial forms of Parkinson's disease, and α-synuclein protein has been shown to accumulate in the brains of patients with the disease3. These findings suggest that Parkinson's disease may be caused by the abnormal aggregation of α-synuclein protein. Here we have identified in a German family with Parkinson's disease a missense mutation in the ubiquitin carboxy-terminal hydrolase L1 (UCH-L1) gene. We show that this mutation, Ile93Met, causes a partial loss of the catalytic activity of this thiol protease, which could lead to aberrations in the proteolytic pathway and aggregation of proteins.

引用

页码：451 / 452

页数：2

共 9 条

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