Review Article
Altered Gene Expression, Mitochondrial Damage and Oxidative Stress: Converging Routes in Motor Neuron Degeneration
Table 1
Genes involved in MNDs.
| Gene | Protein | MND | Main known function |
| SOD1 | Cu, Zn superoxide dismutase | ALS1 | Antioxidant enzyme | ALS2 | Alsin | ALS2 | guanine nucleotide exchange factor for GTPases | SETX | Senataxin | ALS4 | DNA/RNA metabolism and repair | SPG11 | Spataxin | ALS5 | Neuron differentiation and axonal transport | FUS/TLS | Fused in sarcoma | ALS6 | RNA binding protein | VAPB | VAMP-associated protein B | ALS8 | Trafficking between the endoplasmic reticulum and Golgi apparatus | TDP-43 | TAR-DNA-binding protein-43 | ALS9 | DNA- and RNA-binding protein | ANG | Angiogenin | ALS10 | Angiogenesis in response to hypoxia; possibly RNA metabolism | FIG4 | PI(3,5)P(2)5-phosphatase | ALS11 | Metabolism of phosphatidyl inositol bisphosphate and vesicle dynamic | OPTN | Optineurin | ALS12 | Vesicular trafficking | nAChR | Neuronal nicotinic acetylcholine receptor | ALS | Glutamatergic pathway | CHMP2B | Charged multivesicular protein 2B | ALS | Chromatin-modifying protein/charged multivesicular body protein family | VCP | Valosin-containing protein | ALS | Membrane trafficking, organelle biogenesis, maturation of ubiquitin-containing autophagosomes | DAO | D-aminoacid oxidase | ALS | Oxidative deamination of D-aminoacid | UBQLN2 | Ubiquilin2 | ALS | Ubiquitin-proteasome response | Sig-1R | Sigma-1 receptor | ALS | ER chaperone, modulates calcium signaling through the IP3 receptor | C9ORF72 | Unknown | ALS | Unknown | AR | Androgen receptor | SBMA | Androgen receptor | SMN | Survival Motor Neuron | SMA | RNA processing | GLE1 | Nucleoporin GLE1 | LCCS1 | Export of mRNAs containing poly(A) |
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