Article
Functional Impact of the G279S Substitution in the Adenosine A1-Receptor (A1R-G279S7.44), a Mutation Associated with Parkinson's Disease.
Molecular pharmacology - 1 Sept 2020
Nasrollahi-Shirazi Shahrooz, Szöllösi Daniel, Yang Qiong, Muratspahic Edin, El-Kasaby Ali, Sucic Sonja, Stockner Thomas, Nanoff Christian, Freissmuth Michael
Abstract excerpt
In medium-size, spiny striatal neurons of the direct pathway, dopamine D1- and adenosine A1-receptors are coexpressed and are mutually antagonistic. Recently, a mutation in the gene encoding the A1-receptor (A1R), A1R-G279S7.44, was identified in an Iranian family: two affected offspring suffered from early-onset l-DOPA-responsive Parkinson's disease. The link between the mutation and the phenotype is unclear....
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