KEGG   NETWORK: N01012
Entry
N01012                      Network                                
Name
Mutation-caused aberrant PSEN1 to IRE1a-XBP1 signaling pathway
Definition
PSEN1* -| ERN1 -> XBP1
  Expanded
5663v1 -| 2081 -> 7494
Class
nt06412 Unfolded protein response (UPR) signaling
nt06460 Alzheimer disease
Type
Variant
Pathway
hsa05010  Alzheimer disease
Disease
H00056  Alzheimer disease
Gene
5663  PSEN1; presenilin 1
2081  ERN1; endoplasmic reticulum to nucleus signaling 1
7494  XBP1; X-box binding protein 1
Variant
5663v1 (PSEN1*)  PSEN1 mutation
Reference
  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
  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
  Authors
Xiang C, Wang Y, Zhang H, Han F
  Title
The role of endoplasmic reticulum stress in neurodegenerative disease.
  Journal
Apoptosis 22:1-26 (2017)
DOI:10.1007/s10495-016-1296-4
Reference
  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
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