. Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations. Proc Natl Acad Sci U S A. 1999 Jun 8;96(12):6959-63. PubMed.

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  1. This is clearl [evidence] for PS1's [role in the] function on cleavage and recruitment of Notch-1. Undoubtedly, this is one of the most important papers in this field.

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Mutations

  1. PSEN1 C410Y