Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy
单等位基因 p.R37H 脱氢多萜醇二磷酸合成酶变体导致进行性癫痫性脑病的新型小鼠模型出现蛋白质糖基化缺陷、异常脂质谱和中间神经元稀少。
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doi:10.1101/2025.08.15.670547
Da Silva, Afitz; Tene Tadoum, Samuel Boris; Muffels, Irena J J; Budhraja, Rohit; Sturiale, Luisa; Messina, Angela; Giladi, Moshe; Taherzadeh, Mahsa; Fazeli, Mehrnaz; Bonneil, Éric; Khan, Shaukat; Te Vruchte, Danielle; Yamanaka, Yojiro; Di Cristo, Graziella; Hamdan, Fadi F; Platt, Frances M; Tomatsu, Shunji; Haitin, Yoni; Kozicz, Tamas; Thibault, Pierre; Garozzo, Domenico; Pandey, Akilesh; Morava, Eva; Rossignol, Elsa; Pshezhetsky, Alexey V
