Search results for "PSEN1"

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Presenilin-1 but not amyloid precursor protein mutations present in mouse models of Alzheimer’s disease attenuate the response of cultured cells to γ…

2010

γ-Secretase modulators (GSMs) inhibit the generation of amyloidogenic Aβ42 peptides and are promising agents for treatment or prevention of Alzheimer's disease (AD). Recently, a second generation of GSMs with favorable pharmacological properties has emerged, but preclinical studies to assess their efficacy in vivo are lacking. Such studies rely on transgenic mouse models that express amyloid precursor protein (APP) and presenilin (PSEN) mutations associated with early-onset familial AD. Previously, we have shown that certain PSEN1 mutations attenuated the response of cultured cells to GSMs and potentially confound in vivo studies in AD mouse models. However, different combinations of famili…

Genetically modified mouseMutationbiologymedicine.disease_causemedicine.diseaseBiochemistryPhenotypePresenilinCellular and Molecular NeuroscienceIn vivomedicinePSEN1Amyloid precursor proteinbiology.proteinCancer researchAlzheimer's diseaseNeuroscienceJournal of Neurochemistry
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Presenilin-1 Mutations Are a Cause of Primary Lateral Sclerosis-Like Syndrome

2021

6 páginas, 2 figuras

Pathologymedicine.medical_specialtyNeurosciences. Biological psychiatry. NeuropsychiatryDiseasePSEN1 mutationPresenilinCellular and Molecular NeuroscienceCerebrospinal fluidPSEN1MedicineFamily historyAmyotrophic lateral sclerosisMolecular BiologyPrimary Lateral Sclerosisbusiness.industryUpper motor neuronBrief Research ReportAlzheimer's diseasemedicine.diseasemedicine.anatomical_structuremotor neuron diseaseprimary lateral sclerosisprogressive spastic paraparesisbusinessAlzheimer’s diseaseNeuroscienceRC321-571
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