Presenilin-1Presenilin-2PresenilinsPoint MutationAmyloid Precursor Protein SecretasesMutation, MissenseMutationAspartic Acid EndopeptidasesMembrane ProteinsAlzheimer DiseaseFrameshift MutationAmyloid beta-Protein PrecursorEndopeptidasesGerm-Line MutationReceptors, NotchPedigreeAmyloid beta-PeptidesMolecular Sequence DataAmino Acid SequenceExonsAmino Acid SubstitutionMutation RateBase SequenceHeterozygoteProtein Structure, TertiaryCell LineDNA Mutational AnalysisAllelesMutagenesis, Site-DirectedPolymerase Chain ReactionMutagenesisHomozygotePhenotypeGenotypeProtein BindingPolymorphism, Single-Stranded ConformationalTransfectionHelminth ProteinsGenes, DominantSequence Homology, Amino AcidCodon, NonsenseDNA PrimersSequence Analysis, DNAMice, TransgenicBinding SitesSignal TransductionModels, MolecularGenes, RecessiveGene DeletionReceptor, Notch1Transcription FactorsMembrane GlycoproteinsBrainCloning, MolecularCricetinaeGenetic Complementation TestSequence DeletionPeptide FragmentsCHO CellsGenetic TestingCaenorhabditis elegans ProteinsDrosophila ProteinsMutant ProteinsAge of OnsetEscherichia coliSuppression, GeneticDNA-Binding ProteinsSequence AlignmentCells, CulturedChromosome MappingCOS CellsCaenorhabditis elegansRecombinant ProteinsNeuronsCodonAnimals, Genetically ModifiedHeterozygote DetectionHistory, Early Modern 1451-1600Blotting, WesternProtein Processing, Post-TranslationalPeptide HydrolasesMice, KnockoutDNAPlasmidsProtein ConformationModels, Geneticbeta CateninCricetulusCarrier ProteinsTranscription, GeneticImmunohistochemistryRecombinant Fusion ProteinsFounder EffectGenes, p53Cell MembraneHEK293 CellsDrosophilaModels, BiologicalSyndromeDrosophila melanogaster