Article
LRRK2 and Parkinson's Disease: From Lack of Structure to Gain of Function.
Current protein & peptide science - 1 Jan 2017
Blanca Ramírez Marian, Madero-Perez Jesus, Rivero-Rios Pilar, Martinez-Salvador Mar, Lara Ordonez Antonio J, Fernandez Belen, Fdez Elena, Hilfiker Sabine
Abstract excerpt
Mutations in LRRK2 comprise the most common cause for familial Parkinson's disease (PD), and variations increase risk for sporadic disease, implicating LRRK2 in the entire disease spectrum. LRRK2 is a large protein harbouring both GTPase and kinase domains which display measurable catalytic activity. Most pathogenic mutations increase the kinase activity, with increased activity being cytotoxic under certain...
Topics
- Aminopyridines
- Antiparkinson Agents
- Autophagy
- Benzamides
- Endocytosis
- Gene Expression
- Humans
- Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
- Mutation
- Neurons