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Updated: Jul 17, 2026

Assaying the Kinase Activity of LRRK2 in vitro
Published on: January 18, 2012
Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease
Mathias Toft1, Ignacio F Mata, Owen A Ross
1Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida 32224, USA.
Abstract:
An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case-control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease.
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