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
nt06460  Alzheimer disease
nt06466  Pathways of neurodegeneration
nt06511  NOTCH signaling
nt06534  Unfolded protein response
Disease
H00056  Alzheimer disease
H00681  Acne inversa
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
Reference
  Authors
Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X
  Title
Gamma-secretase gene mutations in familial acne inversa.
  Journal
Science 330:1065 (2010)
DOI:10.1126/science.1196284
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