KEGG   NETWORK: N01138
Entry
N01138                      Network                                

Name
Mutation-inactivated OPTN to PINK-Parkin-mediated autophagosome formation
Definition
PINK1 -> PRKN -> (CISD1,CISD2,FAF2,FKBP8,TOMM70,HK1) // OPTN*
  Expanded
65018 -> 5071 -> (55847,493856,23197,23770,9868,3098) // 10133v1
Class
nt06421 Mitophagy
nt06464 Amyotrophic lateral sclerosis
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
10133  OPTN; optineurin
Variant
10133v1 (OPTN*)  OPTN mutation
Reference
  Authors
Deng Z, Purtell K, Lachance V, Wold MS, Chen S, Yue Z
  Title
Autophagy Receptors and Neurodegenerative Diseases.
  Journal
Trends Cell Biol 27:491-504 (2017)
DOI:10.1016/j.tcb.2017.01.001
Reference
  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
Reference
  Authors
Moore AS, Holzbaur EL
  Title
Dynamic recruitment and activation of ALS-associated TBK1 with its target optineurin are required for efficient mitophagy.
  Journal
Proc Natl Acad Sci U S A 113:E3349-58 (2016)
DOI:10.1073/pnas.1523810113
Reference
  Authors
Markovinovic A, Cimbro R, Ljutic T, Kriz J, Rogelj B, Munitic I
  Title
Optineurin in amyotrophic lateral sclerosis: Multifunctional adaptor protein at the crossroads of different neuroprotective mechanisms.
  Journal
Prog Neurobiol 154:1-20 (2017)
DOI:10.1016/j.pneurobio.2017.04.005
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