Pathogenic variants of Valosin-containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells.

Veronica FerrariRiccardo CristofaniMaria E CicardiBarbara TedescoValeria CrippaMarta ChierichettiElena CasarottoMarta CozziFrancesco MinaMariarita GalbiatiMargherita PiccolellaSerena CarraThomas VaccariAngele NalbandianVirginia KimonisTyler R FortunaUdai B PandeyMaria C GaglianiKatia CortesePaola RusminiAngelo Poletti

Published in: Neuropathology and applied neurobiology (2022)

Together, our findings provide insights into the pathogenesis of VCP-related diseases, by proposing a novel mechanism of multilamellar body formation induced by VCP mutants that involves lysosomal damage and induction of lysophagy.

Keyphrases

oxidative stress
induced apoptosis
endoplasmic reticulum stress
cell cycle arrest
transcription factor
cell death
signaling pathway
gene expression
copy number
protein protein
dna methylation
small molecule
pi k akt
heat stress
blood brain barrier