Biallelic null RAB3GAP1 variants impair cortical development and autophagy in Warburg Micro syndrome: evidence from fetal brain tissue and patient fibroblasts
双等位基因缺失的 RAB3GAP1 变异体损害 Warburg Micro 综合征的皮质发育和自噬:来自胎儿脑组织和患者成纤维细胞的证据
期刊:Acta Neuropathol Commun
影响因子:6.200
doi:10.1186/s40478-025-02204-8.
Emma Noël,Fabien Guimiot,Yline Capri,Marianne Alison,Asha Baskaran,Clémence Delcour,David Germanaud,Sophie Lebon,Caroline Storey,Nicolas de Roux,Adeline Orts-Del'Immagine
细胞生物学
发育与干细胞
成纤维细胞
Autophagy
自噬