KEGG   NETWORK: N01007
Entry
N01007                      Network                                
Name
Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
Definition
(PSEN1*,PSEN2*) -> RYR3 -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS == APAF1 -> CASP9 -> (CASP3,CASP7)
  Expanded
(5663v1,5664v1) -> 6263 -> C00076 -- 90550 -> C00076 -- (7416,7417,7419,291,292,293,83447) -> 54205 == 317 -> 842 -> (836,840)
Class
nt06460 Alzheimer disease
nt06466 Pathways of neurodegeneration
Type
Variant
Pathway
hsa05010  Alzheimer disease
Disease
H00056  Alzheimer disease
Gene
5663  PSEN1; presenilin 1
5664  PSEN2; presenilin 2
6263  RYR3; ryanodine receptor 3
90550  MCU; mitochondrial calcium uniporter
7416  VDAC1; voltage dependent anion channel 1
7417  VDAC2; voltage dependent anion channel 2
7419  VDAC3; voltage dependent anion channel 3
291  SLC25A4; solute carrier family 25 member 4
292  SLC25A5; solute carrier family 25 member 5
293  SLC25A6; solute carrier family 25 member 6
83447  SLC25A31; solute carrier family 25 member 31
54205  CYCS; cytochrome c, somatic
317  APAF1; apoptotic peptidase activating factor 1
842  CASP9; caspase 9
836  CASP3; caspase 3
840  CASP7; caspase 7
Variant
5663v1 (PSEN1*)  PSEN1 mutation
5664v1 (PSEN2*)  PSEN2 mutation
Metabolite
C00076  Calcium cation
C00076  Calcium cation
Reference
PMID:16394273
  Authors
Lee SY, Hwang DY, Kim YK, Lee JW, Shin IC, Oh KW, Lee MK, Lim JS, Yoon DY, Hwang SJ, Hong JT
  Title
PS2 mutation increases neuronal cell vulnerability to neurotoxicants through activation of caspase-3 by enhancing of ryanodine receptor-mediated calcium release.
  Journal
FASEB J 20:151-3 (2006)
DOI:10.1096/fj.05-4017fje;1
Reference
PMID:22842534
  Authors
Honarnejad K, Herms J
  Title
Presenilins: role in calcium homeostasis.
  Journal
Int J Biochem Cell Biol 44:1983-6 (2012)
DOI:10.1016/j.biocel.2012.07.019
Reference
PMID:17568632
  Authors
Cowburn RF, Popescu BO, Ankarcrona M, Dehvari N, Cedazo-Minguez A
  Title
Presenilin-mediated signal transduction.
  Journal
Physiol Behav 92:93-7 (2007)
DOI:10.1016/j.physbeh.2007.05.053
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