Genetic & Genomic MedicinemedRxivPreprint
Disruptive mutations in the serotonin transporter associate serotonin dysfunction with treatment-resistant affective disorder
Jonatan Fullerton Støier, Trine Nygaard Jørgensen, Thomas Sparsø…·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.
4 citations