Reposted by @chihyao.bsky.social
Beautiful work into Vici Syndrome from @kritsh.bsky.social, investigating how pathogenic variants in EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation. @gabbov.bsky.social @chihyao.bsky.social @natcomms.nature.com
www.nature.com/articles/s41...
nature.com
Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation - Nature Communications
Mutations in the autophagy protein EPG5 cause multisystem disease, including neurodegeneration. This study shows that impaired mitophagy drives mitochondrial Ca2+ overload with permeability transition...