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