Enzymatic characteristics of I213T mutant presenilin-1/gamma-secretase in cell models and knock-in mouse brains: familial Alzheimer disease-linked mutation impairs gamma-site cleavage of amyloid precursor protein C-terminal fragment beta.
Presenilin-1 (PS-1) gene of three Japanese pedigrees with early-onset familial Alzheimer's disease (FAD) disclosed two novel missense mutations resulting in Val96Phe and Ile213Thr, and one mutation resulting in His163Arg.
Presenilin-1 (PS-1) gene of three Japanese pedigrees with early-onset familial Alzheimer's disease (FAD) disclosed two novel missense mutations resulting in Val96Phe and Ile213Thr, and one mutation resulting in His163Arg.