TDP-43-M323K causes abnormal brain development and progressive cognitive and motor deficits associated with mislocalised and increased levels of TDP-43.
Godoy-Corchuelo JM, Ali Z, Brito Armas JM, Martins-Bach AB, García-Toledo I, Fernández-Beltrán LC, López-Carbonero JI, Bascuñana P, Spring S, Jimenez-Coca I, et al. Neurobiol Dis. 2024 Apr; 193:106437. Epub 2024 Feb 15.