Article
Precision genetic cellular models identify therapies protective against ER stress.
Cell death & disease - 5 Aug 2021
Lebedeva Irina V, Wagner Michelle V, Sahdeo Sunil, Lu Yi-Fan, Anyanwu-Ofili Anuli, Harms Matthew B, Wadia Jehangir S, Rajagopal Gunaretnam, Boland Michael J, Goldstein David B
Abstract excerpt
Rare monogenic disorders often share molecular etiologies involved in the pathogenesis of common diseases. Congenital disorders of glycosylation (CDG) and deglycosylation (CDDG) are rare pediatric disorders with symptoms that range from mild to life threatening. A biological mechanism shared among CDG and CDDG as well as more common neurodegenerative diseases such as Alzheimer's disease and amyotrophic lateral...
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