KEGG   NETWORK: N01143
Entry
N01143                      Network                                

Name
Mutation-inactivated C9orf72 to C9orf72-mediated autophagy initiation
Definition
RAB1A // (C9orf72*+WDR41+SMCR8) // (ULK1+RB1CC1+ATG101+ATG13)
  Expanded
5861 // (203228v1+55255+140775) // (8408+9821+60673+9776)
Class
nt06413 Autophagy
nt06464 Amyotrophic lateral sclerosis
Type
Variant
Pathway
hsa05014  Amyotrophic lateral sclerosis
Disease
H00058  Amyotrophic lateral sclerosis (ALS)
Gene
5861  RAB1A; RAB1A, member RAS oncogene family
203228  C9orf72; C9orf72-SMCR8 complex subunit
55255  WDR41; WD repeat domain 41
140775  SMCR8; SMCR8-C9orf72 complex subunit
8408  ULK1; unc-51 like autophagy activating kinase 1
9821  RB1CC1; RB1 inducible coiled-coil 1
60673  ATG101; autophagy related 101
9776  ATG13; autophagy related 13
Variant
203228v1 (C9orf72*)  C9ORF72 mutation
Reference
  Authors
Webster CP, Smith EF, Grierson AJ, De Vos KJ
  Title
C9orf72 plays a central role in Rab GTPase-dependent regulation of autophagy.
  Journal
Small GTPases 9:399-408 (2018)
DOI:10.1080/21541248.2016.1240495
Reference
  Authors
Deng Z, Sheehan P, Chen S, Yue Z
  Title
Is amyotrophic lateral sclerosis/frontotemporal dementia an autophagy disease?
  Journal
Mol Neurodegener 12:90 (2017)
DOI:10.1186/s13024-017-0232-6
Reference
  Authors
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R
  Title
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS.
  Journal
Neuron 72:245-56 (2011)
DOI:10.1016/j.neuron.2011.09.011
Reference
  Authors
Zhu Q, Jiang J, Gendron TF, McAlonis-Downes M, Jiang L, Taylor A, Diaz Garcia S, Ghosh Dastidar S, Rodriguez MJ, King P, Zhang Y, La Spada AR, Xu H, Petrucelli L, Ravits J, Da Cruz S, Lagier-Tourenne C, Cleveland DW
  Title
Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72.
  Journal
Nat Neurosci 23:615-624 (2020)
DOI:10.1038/s41593-020-0619-5

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