 | | NETWORK: N01158 | |
| Entry |
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| Name |
Mutation-caused aberrant DCTN1 to retrograde axonal transport
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| Definition |
DCTN1* // (TUBA+TUBB) |
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| Expanded |
1639v1 // ((7846,10376,84790,7278,113457,112714,7277,51807)+(203068,81027,7280,347733,10381,10382,10383,84617,347688)) |
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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 |
| 1639 | DCTN1; dynactin subunit 1 |
| 7846 | TUBA1A; tubulin alpha 1a |
| 10376 | TUBA1B; tubulin alpha 1b |
| 84790 | TUBA1C; tubulin alpha 1c |
| 7278 | TUBA3C; tubulin alpha 3c |
| 113457 | TUBA3D; tubulin alpha 3d |
| 112714 | TUBA3E; tubulin alpha 3e |
| 7277 | TUBA4A; tubulin alpha 4a |
| 51807 | TUBA8; tubulin alpha 8 |
| 203068 | TUBB; tubulin beta class I |
| 81027 | TUBB1; tubulin beta 1 class VI |
| 7280 | TUBB2A; tubulin beta 2A class IIa |
| 347733 | TUBB2B; tubulin beta 2B class IIb |
| 10381 | TUBB3; tubulin beta 3 class III |
| 10382 | TUBB4A; tubulin beta 4A class IVa |
| 10383 | TUBB4B; tubulin beta 4B class IVb |
| 84617 | TUBB6; tubulin beta 6 class V |
| 347688 | TUBB8; tubulin beta 8 class VIII |
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| Variant |
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| Reference |
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| Authors |
Brown RH, Al-Chalabi A |
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| Title |
Amyotrophic Lateral Sclerosis. |
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| Journal |
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| Reference |
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| Authors |
Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH |
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| Title |
Mutant dynactin in motor neuron disease. |
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| Journal |
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| LinkDB |
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