Ontology highlight
ABSTRACT:
SUBMITTER: Wiesner D
PROVIDER: S-EPMC4447824 | biostudies-literature | 2015 Apr
REPOSITORIES: biostudies-literature
Wiesner Diana D Sinniger Jérome J Henriques Alexandre A Dieterlé Stéphane S Müller Hans-Peter HP Rasche Volker V Ferger Boris B Dirrig-Grosch Sylvie S Soylu-Kucharz Rana R Petersén Asa A Walther Paul P Linkus Birgit B Kassubek Jan J Wong Philip C PC Ludolph Albert C AC Dupuis Luc L
Human molecular genetics 20141230 8
Mutations in components of the molecular motor dynein/dynactin lead to neurodegenerative diseases of the motor system or atypical parkinsonism. These mutations are associated with prominent accumulation of vesicles involved in autophagy and lysosomal pathways, and with protein inclusions. Whether alleviating these defects would affect motor symptoms remain unknown. Here, we show that a mouse model expressing low levels of disease linked-G59S mutant dynactin p150(Glued) develops motor dysfunction ...[more]