| Entry |
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| Name |
Mutation-caused aberrant TDP43 to electron transfer in Complex I
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| Definition |
TARDBP* -| CxI -> Q |
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| Expanded |
23435v1 -| (4535+4536+4537+4538+4540+4541+4719+4720+4722+4724+4725+4726+374291+4728+4723+4729+4731+4694+4695+4696+4697+4698+4700+4701+4702+4704+4705+4706+126328+55967+51079+4707+4708+4709+4710+4711+4712+4713+4714+4715+4716+54539+4717+4718) -> C00399 |
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| Class |
nt06464 Amyotrophic lateral sclerosis
nt06466 Pathways of neurodegeneration
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| Type |
Variant
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| Pathway |
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| Disease |
| H00058 | Amyotrophic lateral sclerosis (ALS) |
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| Gene |
| 23435 | TARDBP; TAR DNA binding protein |
| 4535 | ND1; NADH dehydrogenase, subunit 1 (complex I) |
| 4537 | ND3; NADH dehydrogenase, subunit 3 (complex I) |
| 4538 | ND4; NADH dehydrogenase, subunit 4 (complex I) |
| 4540 | ND5; NADH dehydrogenase, subunit 5 (complex I) |
| 4541 | ND6; NADH dehydrogenase, subunit 6 (complex I) |
| 4719 | NDUFS1; NADH:ubiquinone oxidoreductase core subunit S1 |
| 4720 | NDUFS2; NADH:ubiquinone oxidoreductase core subunit S2 |
| 4722 | NDUFS3; NADH:ubiquinone oxidoreductase core subunit S3 |
| 4724 | NDUFS4; NADH:ubiquinone oxidoreductase subunit S4 |
| 4725 | NDUFS5; NADH:ubiquinone oxidoreductase subunit S5 |
| 4726 | NDUFS6; NADH:ubiquinone oxidoreductase subunit S6 |
| 374291 | NDUFS7; NADH:ubiquinone oxidoreductase core subunit S7 |
| 4728 | NDUFS8; NADH:ubiquinone oxidoreductase core subunit S8 |
| 4723 | NDUFV1; NADH:ubiquinone oxidoreductase core subunit V1 |
| 4729 | NDUFV2; NADH:ubiquinone oxidoreductase core subunit V2 |
| 4731 | NDUFV3; NADH:ubiquinone oxidoreductase subunit V3 |
| 4694 | NDUFA1; NADH:ubiquinone oxidoreductase subunit A1 |
| 4695 | NDUFA2; NADH:ubiquinone oxidoreductase subunit A2 |
| 4696 | NDUFA3; NADH:ubiquinone oxidoreductase subunit A3 |
| 4697 | NDUFA4; NDUFA4 mitochondrial complex associated |
| 4698 | NDUFA5; NADH:ubiquinone oxidoreductase subunit A5 |
| 4700 | NDUFA6; NADH:ubiquinone oxidoreductase subunit A6 |
| 4701 | NDUFA7; NADH:ubiquinone oxidoreductase subunit A7 |
| 4702 | NDUFA8; NADH:ubiquinone oxidoreductase subunit A8 |
| 4704 | NDUFA9; NADH:ubiquinone oxidoreductase subunit A9 |
| 4705 | NDUFA10; NADH:ubiquinone oxidoreductase subunit A10 |
| 4706 | NDUFAB1; NADH:ubiquinone oxidoreductase subunit AB1 |
| 126328 | NDUFA11; NADH:ubiquinone oxidoreductase subunit A11 |
| 55967 | NDUFA12; NADH:ubiquinone oxidoreductase subunit A12 |
| 51079 | NDUFA13; NADH:ubiquinone oxidoreductase subunit A13 |
| 4707 | NDUFB1; NADH:ubiquinone oxidoreductase subunit B1 |
| 4708 | NDUFB2; NADH:ubiquinone oxidoreductase subunit B2 |
| 4709 | NDUFB3; NADH:ubiquinone oxidoreductase subunit B3 |
| 4710 | NDUFB4; NADH:ubiquinone oxidoreductase subunit B4 |
| 4711 | NDUFB5; NADH:ubiquinone oxidoreductase subunit B5 |
| 4712 | NDUFB6; NADH:ubiquinone oxidoreductase subunit B6 |
| 4713 | NDUFB7; NADH:ubiquinone oxidoreductase subunit B7 |
| 4714 | NDUFB8; NADH:ubiquinone oxidoreductase subunit B8 |
| 4715 | NDUFB9; NADH:ubiquinone oxidoreductase subunit B9 |
| 4716 | NDUFB10; NADH:ubiquinone oxidoreductase subunit B10 |
| 54539 | NDUFB11; NADH:ubiquinone oxidoreductase subunit B11 |
| 4717 | NDUFC1; NADH:ubiquinone oxidoreductase subunit C1 |
| 4718 | NDUFC2; NADH:ubiquinone oxidoreductase subunit C2 |
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| Variant |
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| Metabolite |
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| Reference |
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| Authors |
Kodavati M, Wang H, Hegde ML |
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| Title |
Altered Mitochondrial Dynamics in Motor Neuron Disease: An Emerging Perspective. |
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| Journal |
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| Reference |
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| Authors |
Wang W, Wang L, Lu J, Siedlak SL, Fujioka H, Liang J, Jiang S, Ma X, Jiang Z, da Rocha EL, Sheng M, Choi H, Lerou PH, Li H, Wang X |
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| Title |
The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity. |
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| Journal |
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| LinkDB |
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