OMIM_GOF@xiajingbo:104311-20-PSEN1 / 546-555
|
Lewis et al. (2000) showed that cys92-to-ser (C92S), the PS1 homolog of the C. elegans sel-12 loss of function mutation cys60 to ser, increased amyloid beta-42 production when expressed in a neuroglioma cell line, similar to other pathogenic PS1 mutations. They noted, but did not cite, a report identifying C92S as the pathogenic mutation in an Italian family with familial Alzheimer disease (AD3; 607822). The results suggested that all FAD-linked PS1 mutations result in increased amyloid beta-42 production through a partial loss of function mechanism.
|