Table 2.
Neuronal functions of proteins encoded by the alternative mRNA isoforms regulated by TDP-43.
| Gene symbol |
Gene name | neurologic disease association |
neuronal function | Pubmed PMID |
|---|---|---|---|---|
| AP2 (TFAP2A) |
transcription factor AP-2 alpha |
cranial neural-tube closure |
11137286 | |
| BIM (BCL2L11) |
bcl-2 interacting mediator of cell death |
ischemia-induced neuronal death |
apoptotic signalling cascade |
16780816 17568190 |
| CNTFR | ciliary neurotrophic factor receptor |
Amyotropic lateral sclerosis |
neuronal survival | 19386761 |
| MADD | MAP-kinase activating death domain |
Alzheimer’s disease |
neuronal survival under stress conditions |
9482930 |
| MEF2D | myocyte enhancer factor 2D |
Parkinson’s disease |
neuronal survival | 19119233 |
| CDK5RAP2 | CDK5 regulatory subunit associated protein 2 |
Primary autosomal- recessive microcephaly |
maintainance of the neural progenitor pool |
20471352 |
| CTNND1 | delta catenin | mental retardation syndrome Cri-du- Chat |
maintenance of dendritic spines |
19914181 |
| DLC1 | deleted in liver cancer 1 |
neural tube development |
15710412 | |
| FZ3 (FZD3) | frizzled homolog 3 | axonal guidance, neural tube closure |
16495441 | |
| KIF2A | kinesin family member 2A |
axonal branching | 12887924 | |
| KIF1B | kinesin family member 1B |
Charcot-Marie- Tooth neuropathy |
axonal vesicle transport |
11389829 |
| SOX6 | transcription factor SOX-6 |
cortical interneuron development |
19657336 | |
| TLE1 | transducin-like enhancer of split 1 |
cortical neuron differentiation |
16314515 | |
| TNIK | TRAF2 and NCK interacting kinase |
dendrite formation | 20159449 | |
| UNC5C | unc-5 homolog C (netrin receptor) |
spinal accessory motor neuron development |
17543537 |