TDP-43 subcellular mislocalisation is correlated with loss of optineurin binding for frontotemporal dementia and amyotrophic lateral sclerosis associated TBK1 missense variants
Lisa J. Oyston, Lauren M. Boccanfuso, Lauren Fitzpatrick, Johnny Zhang, Marianne Hallupp, John B. Kwok, Carol Dobson‐Stone
The paper investigates how TBK1 missense variants affect TDP-43 mislocalization and OPTN binding in FTD and ALS, finding that loss of OPTN binding is more critical than kinase activity.
bioRxiv · Jun 2, 2022 · PreprintGenetics