TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

Brown A. L., Wilkins O. G., Keuss M. J., Hill S. E., Zanovello M., Lee W. C., Bampton A., Lee F. C., Masino L., Qi Y. A., Bryce-Smith S., Gatt A., Hallegger M., Fagegaltier D., Phatnani H., Phatnani H., Kwan J., Sareen D., Broach J. R. & Hornstein E. (2022). TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A. Nature, Vol: 603, Page: 131-137