Rare autism-associated variants implicate syntaxin 1 (STX1 R26Q) phosphorylation and the dopamine transporter (hDAT R51W) in dopamine neurotransmission and behaviors.
AUTHORS
Cartier
E ,
Hamilton
PJ ,
Belovich
AN ,
Shekar
A ,
Campbell
NG ,
Saunders
C ,
Andreassen
TF ,
Gether
U ,
Veenstra-Vanderweele
J ,
Sutcliffe
JS ,
Ulery-Reynolds
PG ,
Erreger
K ,
Matthies
HJ ,
Galli
A ,
. EBioMedicine. 2015 2 ; 2(2). 135-146
- PMID: 25774383 [PubMed].
- PMCID: PMC4353922.
- NIHMSID: NIHMS662353
ABSTRACT
Syntaxin 1 (STX1) is a presynaptic plasma membrane protein that coordinates synaptic vesicle fusion. STX1 also regulates the function of neurotransmitter transporters, including the dopamine (DA) transporter (DAT). The DAT is a membrane protein that controls DA homeostasis through the high-affinity re-uptake of synaptically released DA.
Syntaxin 1 (STX1) is a presynaptic plasma membrane protein that coordinates synaptic vesicle fusion. STX1 also regulates the function of neurotransmitter transporters, including the dopamine (DA) transporter (DAT). The DAT is a membrane protein that controls DA homeostasis through the high-affinity re-uptake of synaptically released DA.
Tags: 2015