Necroptosis inhibition as a therapy for Niemann-Pick disease, type C1: Inhibition of RIP kinases and combination therapy with 2-hydroxypropyl-β-cyclodextrin
A Cougnoux, S Clifford, A Salman, SL Ng… - Molecular genetics and …, 2018 - Elsevier
Niemann-Pick disease, type C1 (NPC1) is an inborn error of metabolism that results in
endolysosomal accumulation of unesterified cholesterol. Clinically, NPC1 manifests as
cholestatic liver disease in the newborn or as a progressive neurogenerative condition
characterized by cerebellar ataxia and cognitive decline. Currently there are no FDA
approved therapies for NPC1. Thus, understanding the pathological processes that
contribute to neurodegeneration will be important in both developing and testing potential …
endolysosomal accumulation of unesterified cholesterol. Clinically, NPC1 manifests as
cholestatic liver disease in the newborn or as a progressive neurogenerative condition
characterized by cerebellar ataxia and cognitive decline. Currently there are no FDA
approved therapies for NPC1. Thus, understanding the pathological processes that
contribute to neurodegeneration will be important in both developing and testing potential …