KEGG   NETWORK: N01010
Entry
N01010                      Network                                
Name
Mutation-caused aberrant PSEN1 to PERK-ATF4 signaling pathway
Definition
PSEN1* -| EIF2AK3 -> EIF2S1 -> ATF4 => DDIT3
  Expanded
5663v1 -| 9451 -> 1965 -> 468 => 1649
Class
nt06534 Unfolded protein response
nt06460 Alzheimer disease
nt06466 Pathways of neurodegeneration
Type
Variant
Pathway
hsa05010  Alzheimer disease
Disease
H00056  Alzheimer disease
Gene
5663  PSEN1; presenilin 1
9451  EIF2AK3; eukaryotic translation initiation factor 2 alpha kinase 3
1965  EIF2S1; eukaryotic translation initiation factor 2 subunit alpha
468  ATF4; activating transcription factor 4
1649  DDIT3; DNA damage inducible transcript 3
Variant
5663v1 (PSEN1*)  PSEN1 mutation
Reference
PMID:27069320
  Authors
Mahdi AA, Rizvi SH, Parveen A
  Title
Role of Endoplasmic Reticulum Stress and Unfolded Protein Responses in Health and Diseases.
  Journal
Indian J Clin Biochem 31:127-37 (2016)
DOI:10.1007/s12291-015-0502-4
Reference
PMID:11551913
  Authors
Katayama T, Imaizumi K, Honda A, Yoneda T, Kudo T, Takeda M, Mori K, Rozmahel R, Fraser P, George-Hyslop PS, Tohyama M
  Title
Disturbed activation of endoplasmic reticulum stress transducers by familial Alzheimer's disease-linked presenilin-1 mutations.
  Journal
J Biol Chem 276:43446-54 (2001)
DOI:10.1074/jbc.M104096200
Reference
PMID:28545479
  Authors
Sprenkle NT, Sims SG, Sanchez CL, Meares GP
  Title
Endoplasmic reticulum stress and inflammation in the central nervous system.
  Journal
Mol Neurodegener 12:42 (2017)
DOI:10.1186/s13024-017-0183-y

  All links  
Pathway (1)   
   KEGG PATHWAY (1)   
Network (1)   
   KEGG VARIANT (1)   
Gene (5)   
   KEGG GENES (5)   
Literature (3)   
   PubMed (3)   
All databases (10)   

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