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, Natascha V. Arends, Leonie P. Posselt, Aparna Shekar, Jenny I. Aguilar, Viktor K. Lund, Kevin Erreger, Mattias Rickhag, Matthew Domenic Lycas, Markus Nowak Lonsdale, Troels Rahbek‐Clemmensen, Andreas Toft Sørensen, Amy Hauck Newman, , Ulrik Gether
The paper identifies a dominant-negative DAT variant linked to parkinsonism and neuropsychiatric disease through functional and in vivo studies.
JCI Insight · Aug 10, 2021Peer-reviewedNeuroscience