Article
Mechanistic insight into the dominant mode of the Parkinson's disease-associated G2019S LRRK2 mutation.
Human molecular genetics - 1 Sept 2007
Luzón-Toro Berta, Rubio de la Torre Elena, Delgado Asunción, Pérez-Tur Jordi, Hilfiker Sabine
Abstract excerpt
Pathogenic mutations in the leucine-rich repeat kinase-2 (LRRK2) gene cause autosomal-dominant and certain cases of sporadic Parkinson's disease (PD). The G2019S substitution in LRRK2 is the most common genetic determinant of PD identified so far, and maps to a specific region of the kinase domai...
Topics
- Amino Acid Sequence
- Catalysis
- DNA Mutational Analysis
- Genetic Predisposition to Disease
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
- Models, Genetic
- Molecular Sequence Data
- Mutation
- Parkinson Disease
- Phosphorylation
- Protein Serine-Threonine Kinases
- Recombinant Proteins