Ontology highlight
ABSTRACT:
SUBMITTER: Shen Y
PROVIDER: S-EPMC4364199 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 20150217 10
Paroxysmal nonkinesigenic dyskinesia (PNKD) is an autosomal dominant episodic movement disorder precipitated by coffee, alcohol, and stress. We previously identified the causative gene but the function of the encoded protein remains unknown. We also generated a PNKD mouse model that revealed dysregulated dopamine signaling in vivo. Here, we show that PNKD interacts with synaptic active zone proteins Rab3-interacting molecule (RIM)1 and RIM2, localizes to synapses, and modulates neurotransmitter ...[more]