Abstract:
: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.
journal_name
Biochem Soc Transjournal_title
Biochemical Society transactionsauthors
Manzoni Cdoi
10.1042/BST20120126subject
Has Abstractpub_date
2012-10-01 00:00:00pages
1147-51issue
5eissn
0300-5127issn
1470-8752pii
BST20120126journal_volume
40pub_type
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