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PSEN1 and PSEN2 Gene Expression in Alzheimer's Disease Brain: A New Approach
(Ios Press, 2014-01-01)
Presenilin 1 (PSEN1) and presenilin 2 (PSEN2) genes encode the major component of y-secretase, which is responsible for sequential proteolytic cleavages of amyloid precursor proteins and the subsequent formation of ...
Generation of a human induced pluripotent stem cell line from a familial Alzheimer's disease PSEN1 T119I patient
(Elsevier, 2021-05)
Human induced pluripotent stem cells (hiPSC) line FLENIi001-A was reprogrammed from dermal fibroblasts using the lentiviral-hSTEMCCA-loxP vector. Fibroblasts were obtained from a skin biopsy of a 72-year-old Caucasian male ...
A novel mutation in PSEN1 (p.Arg41Ser) in an Argentinian woman with early onset Parkinsonism
(Elsevier, 2020-08)
Introduction: Mutations in presenilin-1 (PSEN1) account for the majority of cases of familial autosomal dominant early-onset Alzheimer's disease (AD) as well as in sporadic forms. Atypical presentations are reported including ...
Análise in silico dos genes APP, PSEN1 e PSEN2 na doença de Alzheimer precoce
(Universidade Federal de UberlândiaBrasilCiências Biológicas, 2022)
Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease
(Elsevier Science Inc, 2015-10)
Presenilin 2 gene (PSEN2) mutations account for <5% of all early-onset familial Alzheimer's disease (EOFAD) cases and only 13 have strong evidence for pathogenicity. We aimed to investigate the presence of PSEN2 mutation ...