KEGG   VARIANT: 5664v1
Entry
5664v1                      Variant                                

Name
PSEN2 mutation
Gene
PSEN2  presenilin 2 [KO:K04522]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600759
Network
nt06410  Calcium signaling
nt06460  Alzheimer disease
  Element
N01007  Mutation-caused aberrant PSEN to mGluR5-Ca2+ -apoptotic pathway
Reference
  Authors
Muchnik C, Olivar N, Dalmasso MC, Azurmendi PJ, Liberczuk C, Morelli L, Brusco LI
  Title
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease.
  Journal
Neurobiol Aging 36:2674-7.e1 (2015)
DOI:10.1016/j.neurobiolaging.2015.06.011
Reference
PMID:7651536
  Authors
Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al.
  Title
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene.
  Journal
Nature 376:775-8 (1995)
DOI:10.1038/376775a0
Reference
  Authors
Lleo A, Blesa R, Gendre J, Castellvi M, Pastor P, Queralt R, Oliva R
  Title
A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease.
  Journal
Neurology 57:1926-8 (2001)
DOI:10.1212/wnl.57.10.1926
Reference
  Authors
Ezquerra M, Lleo A, Castellvi M, Queralt R, Santacruz P, Pastor P, Molinuevo JL, Blesa R, Oliva R
  Title
A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.
  Journal
Arch Neurol 60:1149-51 (2003)
DOI:10.1001/archneur.60.8.1149

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