KEGG   NETWORK: N01016
Entry
N01016                      Network                                
Name
Mutation-caused aberrant PSEN1 to ATF6-mediated transcription
Definition
PSEN1* -| ATF6 => (DDIT3,XBP1)
  Expanded
5663v1 -| 22926 => (1649,7494)
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
22926  ATF6; activating transcription factor 6
1649  DDIT3; DNA damage inducible transcript 3
7494  XBP1; X-box binding protein 1
Variant
5663v1 (PSEN1*)  PSEN1 mutation
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
Katayama T, Imaizumi K, Manabe T, Hitomi J, Kudo T, Tohyama M
  Title
Induction of neuronal death by ER stress in Alzheimer's disease.
  Journal
J Chem Neuroanat 28:67-78 (2004)
DOI:10.1016/j.jchemneu.2003.12.004
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