| Entry |
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| Name |
Mutation-caused aberrant SOD1 to intrinsic apoptotic pathway
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| Definition |
SOD1* -| BCL2 -| (BAX,BAK1) -> CYCS == APAF1 -> CASP9 -> CASP3 |
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| Expanded |
6647v1 -| 596 -| (581,578) -> 54205 == 317 -> 842 -> 836 |
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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 |
| 596 | BCL2; BCL2 apoptosis regulator |
| 581 | BAX; BCL2 associated X, apoptosis regulator |
| 578 | BAK1; BCL2 antagonist/killer 1 |
| 54205 | CYCS; cytochrome c, somatic |
| 317 | APAF1; apoptotic peptidase activating factor 1 |
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| Variant |
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| Reference |
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| Authors |
Pasinelli P, Belford ME, Lennon N, Bacskai BJ, Hyman BT, Trotti D, Brown RH Jr |
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| Title |
Amyotrophic lateral sclerosis-associated SOD1 mutant proteins bind and aggregate with Bcl-2 in spinal cord mitochondria. |
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| Journal |
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| Reference |
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| Authors |
Pasinelli P, Houseweart MK, Brown RH Jr, Cleveland DW |
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| Title |
Caspase-1 and -3 are sequentially activated in motor neuron death in Cu,Zn superoxide dismutase-mediated familial amyotrophic lateral sclerosis. |
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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 |
Lin MT, Beal MF |
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| Title |
Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases. |
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| Journal |
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| LinkDB |
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