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Therefore, in the PSEN1 iPS cell model, the researchers reconstituted an essential feature in the molecular development of familial Alzheimer's disease.
The microdomain association of PSEN1 and PSEN2 complexes will be achieved by analysis of colocalization with microdomain-specific proteins and lipid probes.
Ringman reported that 159 were at risk for PSEN1 mutations, 19 for PSEN2 mutations, and 34 for APP mutations.
A team of scientists from Cardiff University have been examining three genes - APP, PSEN1 and PSEN2 - which are known to cause rare early onset forms of Alzheimer's.
The genetic component is most conspicuous in a relatively small percentage (< 1%) of families that carry disease-causing germline mutations in 1 of 3 genes--APP [amyloid beta (A4) precursor protein], PSEN1 (presenilin 1), or PSEN2 (presenilin 2)--that will invariably lead to AD, often at a relatively young age.