LRRK2 and autophagy: a common pathway for disease.

LRRK2 and autophagy: a common pathway for disease.
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DOI:
10.1042/bst20120126
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发表时间:
2012-10
影响因子:
3.9
通讯作者:
C. Manzoni
C. Manzoni
中科院分区:
生物学3区
文献类型:
--
作者:
C. Manzoni

文献摘要

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LRRK2 (leucine-rich repeat kinase 2) is an enzyme implicated in human disease, containing kinase and GTPase functions within the same multidomain open reading frame. Dominant mutations in the LRRK2 gene are the most common cause of familial PD (Parkinson's disease). Additionally, in genome-wide association studies, the LRRK2 locus has been linked to risk of PD, Crohn's disease and leprosy, and LRRK2 has also been linked with cancer. Despite its association with human disease, very little is known about its pathophysiology. Recent reports suggest a functional association between LRRK2 and autophagy. Implications of this set of data for our understanding of LRRK2's role in physiology and disease are discussed in the present paper.