PresenilinsPresenilin-2Presenilin-1Amyloid Precursor Protein SecretasesPoint MutationMutation, MissenseMutationAspartic Acid EndopeptidasesMembrane ProteinsAlzheimer DiseaseAmyloid beta-Protein PrecursorEndopeptidasesReceptors, NotchFrameshift MutationGerm-Line MutationAmyloid beta-PeptidesMolecular Sequence DataPedigreeAmino Acid SequenceCell LineProtein Structure, TertiaryMutation RateEndoplasmic ReticulumTransfectionExonsBase SequenceHeterozygoteDantroleneAmino Acid SubstitutionMice, KnockoutSequence Homology, Amino AcidPolymerase Chain ReactionDNA Mutational AnalysisFibroblastsAllelesProtein BindingHelminth ProteinsPolymorphism, Single-Stranded ConformationalCells, CulturedNeuronsMutagenesis, Site-DirectedMice, TransgenicCaenorhabditis elegansSignal TransductionCodon, NonsenseGenotypeHomozygoteMutagenesisProtein Processing, Post-TranslationalCaenorhabditis elegans ProteinsSequence Analysis, DNACell MembraneProtein TransportGenes, RecessiveSubcellular FractionsEmbryo, MammalianCHO CellsRecombinant ProteinsCalciumCricetinaeHomeostasisPeptide FragmentsBrainSequence DeletionCalcium SignalingMembrane GlycoproteinsGenes, DominantGolgi ApparatusGenetic TestingCatalysisDNA PrimersEscherichia coliBlotting, WesternSuppression, GeneticPhenotypeModels, MolecularChromosome MappingCodonGlycosylationBinding SitesImmunohistochemistryDNA-Binding ProteinsGenetic Complementation TestGene DeletionFounder EffectTranscription FactorsGenes, p53SyndromeCloning, MolecularSequence AlignmentDNAMutant ProteinsGenetic LinkageGenetic Predisposition to DiseaseSaccharomyces cerevisiaeConsanguinityBacterial ProteinsPlasmidsHippocampusModels, Genetic