Kurth V, Ogorek I, Münch C, Lopez-Rios J, Ousson S, Lehmann S, Nieweg K, Roebroek AJ, Pietrzik CU, Beher D, Weggen S. Pathogenic Aβ production by heterozygous PSEN1 mutations is intrinsic to the mutant protein and not mediated by conformational hindrance of wild-type PSEN1. J Biol Chem. 2023 Aug;299(8):104997. Epub 2023 Jun 30 PubMed.

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Mutations

  1. PSEN1 P117L