Article
R1441C mutation in LRRK2 impairs dopaminergic neurotransmission in mice.
Proceedings of the National Academy of Sciences of the United States of America - 25 Aug 2009
Tong Youren, Pisani Antonio, Martella Giuseppina, Karouani Maha, Yamaguchi Hiroo, Pothos Emmanuel N, Shen Jie
Abstract excerpt
Dominantly inherited mutations in leucine-rich repeat kinase 2 (LRRK2) are a common genetic cause of Parkinson's disease (PD). The importance of the R1441 residue in the pathogenesis is highlighted by the identification of three distinct missense mutations. To investigate the pathogenic mechanism underlying LRRK2 dysfunction, we generated a knockin (KI) mouse in which the R1441C mutation is expressed under the...
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