The G2385R Variant of Leucine-Rich Repeat Kinase 2 Associated with Parkinson's Disease is a Partial Loss of Function Mutation

Autosomal-dominant missense mutations in leucine-rich repeat kinase 2 (LRRK2) are a common genetic cause of Parkinson's disease (PD). LRRK2 is a multidomain protein with kinase and GTPase activities. Dominant mutations are found in the domains that have these two enzyme activities including the...

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Publicado no:Biochem J
Main Authors: Rudenko, Iakov N., Kaganovich, Alice, Hauser, David N., Beylina, Aleksandra, Chia, Ruth, Ding, Jinhui, Maric, Dragan, Jaffe, Howard, Cookson, Mark R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4667980/
https://ncbi.nlm.nih.gov/pubmed/22612223
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BJ20120637
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