KEGG   VARIANT: 5663v1
Entry
5663v1                      Variant                                

Name
PSEN1 mutation
Gene
PSEN1  presenilin 1 [KO:K04505]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 104311
Network
nt06410  Calcium signaling
nt06412  Unfolded protein response (UPR) signaling
nt06419  Microtubule-based transport
nt06460  Alzheimer disease
  Element
N01007  Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
N01008  Mutation-caused aberrant PSEN1 to mGluR5-Ca2+ -apoptotic pathway
N01010  Mutation-caused aberrant PSEN1 to PERK-ATF4 signaling pathway
N01012  Mutation-caused aberrant PSEN1 to IRE1a-XBP1 signaling pathway
N01016  Mutation-caused aberrant PSEN1 to ATF6-mediated transcription
N01017  Mutation-caused aberrant PSEN1 to anterograde axonal transport
Reference
  Authors
Dolzhanskaya N, Gonzalez MA, Sperziani F, Stefl S, Messing J, Wen GY, Alexov E, Zuchner S, Velinov M
  Title
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
  Journal
J Alzheimers Dis 39:23-7 (2014)
DOI:10.3233/JAD-131340
Reference
  Authors
Matsubara-Tsutsui M, Yasuda M, Yamagata H, Nomura T, Taguchi K, Kohara K, Miyoshi K, Miki T
  Title
Molecular evidence of presenilin 1 mutation in familial early onset dementia.
  Journal
Am J Med Genet 114:292-8 (2002)
DOI:10.1002/ajmg.10250
Reference
  Authors
Ataka S, Tomiyama T, Takuma H, Yamashita T, Shimada H, Tsutada T, Kawabata K, Mori H, Miki T
  Title
A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis.
  Journal
Arch Neurol 61:1773-6 (2004)
DOI:10.1001/archneur.61.11.1773
Reference
  Authors
Rogaeva E, Bergeron C, Sato C, Moliaka I, Kawarai T, Toulina A, Song YQ, Kolesnikova T, Orlacchio A, Bernardi G, St George-Hyslop PH
  Title
PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier.
  Journal
Neurology 61:1005-7 (2003)
DOI:10.1212/wnl.61.7.1005
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