| Entry |
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| Name |
Mutation-inactivated PINK1 to intrinsic apoptotic pathway
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| Definition |
PINK1* // PRKN // BAX -> CYCS == APAF1 -> CASP9 -> CASP3 |
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| Expanded |
65018v1 // 5071 // 581 -> 54205 == 317 -> 842 -> 836 |
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| Class |
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| Type |
Variant
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| Pathway |
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| Disease |
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| Gene |
| 65018 | PINK1; PTEN induced kinase 1 |
| 5071 | PRKN; parkin RBR E3 ubiquitin protein ligase |
| 581 | BAX; BCL2 associated X, apoptosis regulator |
| 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 |
Wang HL, Chou AH, Yeh TH, Li AH, Chen YL, Kuo YL, Tsai SR, Yu ST |
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| Title |
PINK1 mutants associated with recessive Parkinson's disease are defective in inhibiting mitochondrial release of cytochrome c. |
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| Journal |
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| Reference |
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| Authors |
Franco-Iborra S, Vila M, Perier C |
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| Title |
The Parkinson Disease Mitochondrial Hypothesis: Where Are We at? |
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| Journal |
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| Reference |
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| Authors |
Bose A, Beal MF |
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| Title |
Mitochondrial dysfunction in Parkinson's disease. |
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| Journal |
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| LinkDB |
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