KEGG   NETWORK: N01139
Entry
N01139                      Network                                
Name
Mutation-inactivated p62 to PINK-Parkin-mediated autophagosome formation
Definition
PINK1 -> PRKN -> (CISD1,CISD2,FAF2,FKBP8,TOMM70,HK1) // SQSTM1* // LC3
  Expanded
65018 -> 5071 -> (55847,493856,23197,23770,9868,3098) // 8878v1 // (84557,81631,643246,440738)
Class
nt06464 Amyotrophic lateral sclerosis
nt06466 Pathways of neurodegeneration
Type
Variant
Pathway
hsa05014  Amyotrophic lateral sclerosis
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Gene
65018  PINK1; PTEN induced kinase 1
5071  PRKN; parkin RBR E3 ubiquitin protein ligase
55847  CISD1; CDGSH iron sulfur domain 1
493856  CISD2; CDGSH iron sulfur domain 2
23197  FAF2; Fas associated factor family member 2
23770  FKBP8; FKBP prolyl isomerase 8
9868  TOMM70; translocase of outer mitochondrial membrane 70
3098  HK1; hexokinase 1
8878  SQSTM1; sequestosome 1
84557  MAP1LC3A; microtubule associated protein 1 light chain 3 alpha
81631  MAP1LC3B; microtubule associated protein 1 light chain 3 beta
643246  MAP1LC3B2; microtubule associated protein 1 light chain 3 beta 2
440738  MAP1LC3C; microtubule associated protein 1 light chain 3 gamma
Variant
8878v1 (SQSTM1*)  SQSTM1 mutation
Reference
PMID:29626651
  Authors
Nguyen DKH, Thombre R, Wang J
  Title
Autophagy as a common pathway in amyotrophic lateral sclerosis.
  Journal
Neurosci Lett 697:34-48 (2019)
DOI:10.1016/j.neulet.2018.04.006
Reference
PMID:28279350
  Authors
Menzies FM, Fleming A, Caricasole A, Bento CF, Andrews SP, Ashkenazi A, Fullgrabe J, Jackson A, Jimenez Sanchez M, Karabiyik C, Licitra F, Lopez Ramirez A, Pavel M, Puri C, Renna M, Ricketts T, Schlotawa L, Vicinanza M, Won H, Zhu Y, Skidmore J, Rubinsztein DC
  Title
Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities.
  Journal
Neuron 93:1015-1034 (2017)
DOI:10.1016/j.neuron.2017.01.022
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