NeuroscienceJCI InsightPeer-reviewed
A dominant-negative variant in the dopamine transporter PDZ-binding motif is linked to parkinsonism and neuropsychiatric disease
Freja Herborg, Kathrine Louise Jensen, Sasha Tolstoy…·Ulrik Gether
The paper identifies a dominant-negative DAT variant linked to parkinsonism and neuropsychiatric disease through functional and in vivo studies.