Ontology highlight
ABSTRACT:
SUBMITTER: Marku A
PROVIDER: S-EPMC7052203 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Marku Algerta A Carrion Maria Dolores Perez MDP Pischedda Francesca F Marte Antonella A Casiraghi Zeila Z Marciani Paola P von Zweydorf Felix F Gloeckner Christian Johannes CJ Onofri Franco F Perego Carla C Piccoli Giovanni G
Scientific reports 20200302 1
The LRRK2 protein consists of multiple functional domains, including protein-binding domains at its N and C-terminus. Mutations in the Leucine-rich repeat kinase 2 gene (LRRK2) have been linked to familial and sporadic Parkinson's disease (PD). We have recently described a novel variant falling within the N-terminal armadillo repeats, E193K. Herein, our aim is to investigate the functional impact of LRRK2 N-terminal domain and the E193K variant on vesicle trafficking. By combining Total Internal ...[more]