Disruptive mutations in the serotonin transporter associate serotonin dysfunction with treatment-resistant affective disorder
Jonatan Fullerton Støier, Trine Nygaard Jørgensen, Thomas Sparsø, Henrik Berg Rasmussen, Vivek Kumar, Amy Hauck Newman, Randy Blakely, Thomas Mears Werge, Ulrik Gether, Freja Herborg
The paper identifies two disruptive SERT variants in treatment-resistant affective disorder patients and shows they cause partial loss-of-function, with one variant responsive to pharmacochaperoning.
medRxiv · Aug 29, 2023 · PreprintGenetic & Genomic Medicine