A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCs
在HIKESHI相关髓鞘形成不足性脑白质营养不良症中发现的一种新型致病变异会破坏iPSCs的热休克反应
期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26136037
Saleh, Mahmood Ali; Boichuck, Maria; Ottolenghi, Aner; Rabinski, Tatiana; Goldenthal, Omri; Sanchez, Daniel Sevilla; Fattal-Valevski, Aviva; Heimer, Gali; Ben-Shachar, Shay; Libzon, Stephanie; Gershoni-Yahalom, Orly; Ben-Zvi, Anat; Zarivach, Raz; Zerem, Ayelet; Rosental, Benyamin; Vatine, Gad David