| Entry |
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| Name |
Mutation-caused aberrant SOD1 to retrograde axonal transport
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| Definition |
SOD1* -| (DCTN+DNAH+DNAI+DNALI1+DNAL) |
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| Expanded |
6647v1 -| ((1639+10540+11258+51164+84516+10671+(10121,10120)+55860)+(25981,146754,55567,1767,1768,56171,1769,1770,196385,8701,201625,8632)+(27019,64446)+7802+(83544,10126)) |
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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 |
| 6647 | SOD1; superoxide dismutase 1 |
| 1639 | DCTN1; dynactin subunit 1 |
| 10540 | DCTN2; dynactin subunit 2 |
| 11258 | DCTN3; dynactin subunit 3 |
| 51164 | DCTN4; dynactin subunit 4 |
| 84516 | DCTN5; dynactin subunit 5 |
| 10671 | DCTN6; dynactin subunit 6 |
| 10121 | ACTR1A; actin related protein 1A |
| 10120 | ACTR1B; actin related protein 1B |
| 55860 | ACTR10; actin related protein 10 |
| 25981 | DNAH1; dynein axonemal heavy chain 1 |
| 146754 | DNAH2; dynein axonemal heavy chain 2 |
| 55567 | DNAH3; dynein axonemal heavy chain 3 |
| 1767 | DNAH5; dynein axonemal heavy chain 5 |
| 1768 | DNAH6; dynein axonemal heavy chain 6 |
| 56171 | DNAH7; dynein axonemal heavy chain 7 |
| 1769 | DNAH8; dynein axonemal heavy chain 8 |
| 1770 | DNAH9; dynein axonemal heavy chain 9 |
| 196385 | DNAH10; dynein axonemal heavy chain 10 |
| 8701 | DNAH11; dynein axonemal heavy chain 11 |
| 201625 | DNAH12; dynein axonemal heavy chain 12 |
| 8632 | DNAH17; dynein axonemal heavy chain 17 |
| 27019 | DNAI1; dynein axonemal intermediate chain 1 |
| 64446 | DNAI2; dynein axonemal intermediate chain 2 |
| 7802 | DNALI1; dynein axonemal light intermediate chain 1 |
| 83544 | DNAL1; dynein axonemal light chain 1 |
| 10126 | DNAL4; dynein axonemal light chain 4 |
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| Variant |
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| Reference |
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| Authors |
Zhang F, Strom AL, Fukada K, Lee S, Hayward LJ, Zhu H |
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| Title |
Interaction between familial amyotrophic lateral sclerosis (ALS)-linked SOD1 mutants and the dynein complex. |
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| Journal |
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| Reference |
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| Authors |
Smith EF, Shaw PJ, De Vos KJ |
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| Title |
The role of mitochondria in amyotrophic lateral sclerosis. |
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| Journal |
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| Reference |
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| Authors |
Schon EA, Przedborski S |
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| Title |
Mitochondria: the next (neurode)generation. |
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| Journal |
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| LinkDB |
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