A low frequency damaging SORCS2 variant identified in a family with ADHD compromises receptor stability and quenches activity.
在一个患有 ADHD 的家庭中发现了一种低频有害的 SORCS2 变异,这种变异会损害受体稳定性并抑制其活性。
期刊:Molecular Psychiatry
影响因子:10.1
doi:10.1038/s41380-025-03242-3
Kaas Mathias, Dinesen Sarah Broholt, Ahlgreen Ole, Madsen Peder, Mølgaard Simon, Dalby Anders, Gustafsen Camilla, Olsen Ditte, Duan Jinjie, Vilstrup Joachim, Lende Jonas, Nordestgaard Sanne, Zayats Tetyana, Knappskog Per Morten, Johansson Stefan, Neckelmann Gesche, Franke Barbara, Thirup Søren, Børglum Anders, Reif Andreas, Vægter Christian, Demontis Ditte, Haavik Jan, Glerup Simon, Skeldal Sune