Table 2: Ectopic expression of TDP-43 mutants.

Human TDP-43 mutations  Q331K Eye [7]  M337V Eye [7]  M337V Eye [12]  M337V Eye [15]  A315T Eye [13]  G287S Pan-neural, ubiquitary [8]  A315T Pan-neural, ubiquitary, eye [8]  G348C Pan-neural, ubiquitary [8]  A382T Pan-neural, ubiquitary [8]  N390D Pan-neural, ubiquitary [8] Other mutants  TDP-43 T202 Eye [11]  TDP-43 NES-mut Eye [12]  TDP-43 NLS-mut Eye [12]  TDP-43 ΔNLS Eye, pan-neural, ubiquitary [8]  TDP-43 FFLL Eye, pan-neural, ubiquitary [8]  TDP-43 CTF Pan-neural, ubiquitary [8]  TBPH F/L 150–152 Pan-neural [19]  hTDP-43mutNES Eye, muscle, glia, pan-neural [18]  hTDP-43mutNLS Eye, muscle, glia, pan-neural [18]

TDP-43 T202 contained only the C-terminal domain (the N-terminal RRM motifs are lacking). TDP-43 ΔNLS lacked a functional nuclear localization signal. TDP-43 FFLL contained two missense mutations (F147L/F149L) into the first RNA recognition motif (RRM1) that abolished TDP-43 RNA-binding function [35]. TBPH F/L 150-152 contained point mutations of the two Phe > Leu in RNP-2 of RRM1 corresponding to human (F147L and F149L). TDP-43 CTF consisted in the C-terminal fragment (206–414) similar to those found in cytosolic aggregates of ALS/FTLD patients. TDP-43 NLS-mut and hTDP-43mutNLS were mutants in the nuclear localization sequence (NLS). TDP-43 NES-mut and hTDP-43mutNES were mutants in the nuclear export sequence (NES).