Article
ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation.
Scientific reports - 22 Nov 2023
Ragagnin Audrey M G, Sundaramoorthy Vinod, Farzana Fabiha, Gautam Shashi, Saravanabavan Sayanthooran, Takalloo Zeinab, Mehta Prachi, Do-Ha Dzung, Parakh Sonam, Shadfar Sina, Hunter Julie, Vidal Marta, Jagaraj Cyril J, Brocardo Mariana, Konopka Anna, Yang Shu, Rayner Stephanie L, Williams Kelly L, Blair Ian P, Chung Roger S, Lee Albert, Ooi Lezanne, Atkin Julie D
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a severely debilitating neurodegenerative condition that is part of the same disease spectrum as frontotemporal dementia (FTD). Mutations in the CCNF gene, encoding cyclin F, are present in both sporadic and familial ALS and FTD. However, the pathophysiological mechanisms underlying neurodegeneration remain unclear. Proper functioning of the endoplasmic reticulum (ER) and...
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