Associated Papers
Mice carrying the human dopamine D2 receptor pathogenic mutation p.Met374Arg exhibit hyperactivity and aberrant D2 receptor function.
Rodriguez-Contreras D et al.
Molecular Pharmacology, 2025
Genetic variants of accessory proteins and G proteins in human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2025
Disease-Associated Dopamine Receptor D2 Variants Exhibit Functional Consequences Depending on Different Heterotrimeric G-Protein Subunit Combinations.
Niebrügge N et al.
Biomedicines, 2024
Comparison of the function of two novel human dopamine D2 receptor variants identifies a likely mechanism for their pathogenicity.
Rodriguez-Contreras D et al.
Biochemical Pharmacology, 2024
Gait Abnormalities and Aberrant D2 Receptor Expression and Signaling in Mice Carrying the Human Pathogenic Mutation DRD2I212F.
Rodriguez-Contreras D et al.
Molecular Pharmacology, 2023
Signaling-Biased and Constitutively Active Dopamine D2 Receptor Variant.
Rodriguez-Contreras D et al.
Acs Chemical Neuroscience, 2021
Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.
Mencacci NE et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.
van der Weijden MCM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
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