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简要描述:The Presenilin 1 (PS1) and Presenilin 2 (PS2) transmembrane proteins are components of high molecular weight complexes. These complexes mediate proteolytic cleavage within the transmembrane domain of several proteins, including the ∫-Amyloid precursor protein (∫APP) and Notch. Missense mutations in the genes encoding the Presenilin proteins increase the proteolysis of ∫APP and results in the overproduction of the neurotoxic ∫-Amyloid peptide, which results in a condition associated with
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