| TDP-43 |
TAR DNA-binding protein 43; ALS-linked mutations [145]; impairs DDR in ALS [34] |
| FUS/TLS |
Fused in sarcoma; ALS-linked mutation [79,146]; impairs DDR in ALS [147] |
| HNRNP |
Heterogeneous nuclear ribonucleoprotein; modifies TDP43 [148,149]; associated with DDR [150]; hnRNP L recruits 53BP1 and BRCA1 in cancer [151]; hnRNP F,H, and K are related to ALS [152] and p53 recruitment [153] |
| HNRNPA1 |
ALS linked mutations [154]; telomere protection and telomerase activation [155]; regulated by TDP43 [156] |
| HNRNPA2/B1 |
ALS linked mutations [154] |
| SARM1 |
Sterile alpha and TIR motif containing 1; ALS linked mutations [157]; SARM1 deletion suppresses TDP43-linked ALS [158] |
| PFN1 |
Profilin-1; mutated PFN1 aggregates and shifts TDP43 from nuclei to cytoplasm in ALS [159] |
| UBQLN2 |
Ubiquilin-2; ALS-linked mutations [160]; interacts with TDP43 [161] |
| CCNF |
Cyclin F; ALS-linked mutations [162]; increases ubiquitinated TDP43 [162] |
| ERBB4 |
Erb-B2 Receptor Tyrosine Kinase 4; interacts with TDP43 [163]; regulates p53-dependent DDR [164]; interacts with KAP1 for DDR [165]; activates p53 and p21 [166] |
| SIGMAR1 |
Sigma nonopioid intracellular receptor 1; interacts with TDP43 [167] |
| GLE1 |
RNA export mediator; ALS-linked mutations [168]; interacts with TDP43 [169]; GLE1 deletion increases phosphorylated H2AX, decreases BRCA1 and FANCD2 and increases ATR resulting in delayed DDR [170] |
| SOD1 |
Superoxide dismutase; ALS-linked mutations [33]; protects DNA from oxidative stress damage in ALS [171] |
| DAO |
D-amino acid oxidase; ROS production [172] |
| KIAA1563/ALS2 |
Alsin; ALS-linked mutations [154]; increases ROS in ALS [173]; regulates autophagy [174] |
| C9ORF72 |
Induces DNA damage in ALS [175] |
| SETX |
Senataxin; encodes a DNA/RNA helicase protein involved in DDR and RNA production in ALS4 (Juvenile ALS) [176,177] |
| ATXN2 |
Ataxin-2; ALS-linked mutations [178]; R-loop suppressor [65]; affects R-loop in ALS [179] |
| VCP |
Valosin-containing protein; ALS-linked mutations [180]; facilitates 53BP1 recruitment for DSB repair [17,181]; causes p62 accumulation in ALS [182] |
| NEK1 |
NIMA-Related Kinase 1; mutation induces DNA damage in ALS and impairs ATM-mediated DDR [183] |
| C21ORF2 |
NEK1 interactor; involved in HR repair [48,157] |
| MATR3 |
Matrin-3; activated by ATM and involved in the early stage of the DSB response [184] |
| SQSTM1 /p62 |
Sequestosome-1; inhibits nuclear RNF168; an E3 ligase essential for histone H2A ubiquitination and DDR [185] |
| TBK1 |
TANK-binding kinase 1; ALS-linked mutations [157]; an inducer of type-1 interferons; major role in autophagy and mitophagy [186]; cGAS/Sting/TBK1/IRF3 regulates p21 maintaining chromosomal stability [138] |
| ELP3 |
Elongator complex protein 3; ALS-linked mutations [154]; binds to PCNA; linked to DNA replication and repair [187] |
| TIA1 |
T-cell intracellular antigen 1; affects DDR; binds to p53 mRNA and controls p53 expression [188]; promotes phase separation and alters SG dynamics in ALS [15] |
