GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
与智力障碍和痉挛性截瘫相关的GRID1/GluD1纯合变异会损害mGlu1/5受体信号传导和兴奋性突触。
期刊:Molecular Psychiatry
影响因子:10.1
doi:10.1038/s41380-024-02469-w
Ung, Dévina C; Pietrancosta, Nicolas; Badillo, Elena Baz; Raux, Brigitt; Tapken, Daniel; Zlatanovic, Andjela; Doridant, Adrien; Pode-Shakked, Ben; Raas-Rothschild, Annick; Elpeleg, Orly; Abu-Libdeh, Bassam; Hamed, Nasrin; Papon, Marie-Amélie; Marouillat, Sylviane; Thépault, Rose-Anne; Stevanin, Giovanni; Elegheert, Jonathan; Letellier, Mathieu; Hollmann, Michael; Lambolez, Bertrand; Tricoire, Ludovic; Toutain, Annick; Hepp, Régine; Laumonnier, Frédéric
