The heterotrimeric G-protein α subunit, Gα, acts to transduce extracellular signals through G-protein coupled receptors (GPCRs) and stimulates adenylyl cyclase mediated production of the second messenger cyclic adenosine monophosphate. Numerous mutations in the GNAL gene, which encodes Gα, have been identified as causative for an adult-onset dystonia. These mutations disrupt GPCR signaling cascades in in vitro assays through several mechanisms, and this disrupted signaling is hypothesized to lead to dystonic motor symptoms in patients.
View Article and Find Full Text PDFThe heterotrimeric G-protein α subunit, Gα , acts to transduce extracellular signals through G-protein coupled receptors (GPCRs) and stimulates adenylyl cyclase mediated production of the second messenger cyclic adenosine monophosphate. Numerous mutations in the gene, which encodes Gα , have been identified as causative for an adult-onset dystonia. These mutations disrupt GPCR signaling cascades in assays through several mechanisms, and this disrupted signaling is hypothesized to lead to dystonic motor symptoms in patients.
View Article and Find Full Text PDF