KEGG   NETWORK: N01008
Entry
N01008                      Network                                

Name
Mutation-caused aberrant PSEN1 to mGluR5-Ca2+ -apoptotic pathway
Definition
PSEN1* -> ITPR -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS
  Expanded
5663v1 -> (3708,3709,3710) -> C00076 -- 90550 -> C00076 -- (7416,7417,7419,291,292,293,83447) -> 54205
Class
nt06410 Calcium signaling
nt06460 Alzheimer disease
Type
Variant
Pathway
hsa05010  Alzheimer disease
Disease
H00056  Alzheimer disease
Gene
5663  PSEN1; presenilin 1
3708  ITPR1; inositol 1,4,5-trisphosphate receptor type 1
3709  ITPR2; inositol 1,4,5-trisphosphate receptor type 2
3710  ITPR3; inositol 1,4,5-trisphosphate receptor type 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
Variant
5663v1 (PSEN1*)  PSEN1 mutation
Metabolite
C00076  Calcium cation
C00076  Calcium cation
Reference
  Authors
Toglia P, Ullah G
  Title
The gain-of-function enhancement of IP3-receptor channel gating by familial Alzheimer's disease-linked presenilin mutants increases the open probability of mitochondrial permeability transition pore.
  Journal
Cell Calcium 60:13-24 (2016)
DOI:10.1016/j.ceca.2016.05.002
Reference
  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
  Authors
Mattson MP
  Title
ER calcium and Alzheimer's disease: in a state of flux.
  Journal
Sci Signal 3:pe10 (2010)
DOI:10.1126/scisignal.3114pe10
Reference
  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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