Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 12 of 12 for “"PSEN1"”.
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Modeling Alzheimer's Disease in Induced Pluripotent Stem Cells
… amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN-2). Together, these pathologic findings and genetics provided the framework for the amyloid cascade hypothesis, which states that Aβ deposition is a necessary, early event that is upstream of the formation of NFTs, and …
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Analysis of the subcellular localization of proteins implicated in Alzheimer’s disease
… of the γ-secretase complex is PRESENILIN (PSEN1 or PSEN2). Mutations in the human PSEN1 gene have been identified in AD. Some mutations have been found to cause frame shifts leading to premature stop codons that produce transcripts encoding truncated PSEN1 protein. The subcellular location …
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Modeling Alzheimer's Disease Using CRISPR/CAS9 Gene Editing and Induced Pluripotent Stem Cells Reveals Conserved Cellular Mechanisms
… two APP processing-related genes (presenilin-1 (PSEN1), and presenilin-2 (PSEN2)), supporting the theory that altered APP metabolism is a central cause of AD. However, which product of APP metabolism is causal remains a matter of investigation. A probable source of this lack of understanding …
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Estudio de los mecanismos fisiopatológicos de la ruta sináptica de Neurexinas y Neuroliguinas en la enfermedad de Alzheimer
… de función en los genes de Presenilina 1 (PSEN1) y Presenilina 2 (PSEN2) son la causa mayoritaria de los casos de AD familiar (FAD). Las Presenilinas (PS) forman el componente catalítico del complejo γ-secretasa, que interviene en el procesamiento proteolítico de numerosos sustratos. Hemos …
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Effects of Proton Radiation on Behavior in a Mouse Model of Alzheimer’s Disease
… we exposed young double transgenic APP/PSEN1 mice (a commercially available strain engineered to develop AD-like neuropathology) and their wild-type (non-transgenic) counterparts to low doses of 150 MeV proton particle radiation and assessed the effects on hippocampus-dependent …
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Analysing the biological function of PS2V: an aberrant splicing phenomenon or evolutionarily conserved mechanism in Alzheimer’s disease
… in genes encoding APP, PRESENILIN1 and 2 (PSEN1 and PSEN2) cause an autosomal dominant inherited form of the disease with an early onset known as familial AD. In some sporadic cases an aberrant splice variant of PSEN2 named PS2V is formed that can be found in inclusion bodies in the brain. …
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Alzheimer's disease: Age of Onset Modifier Genes in the World’s Largest Pedigree
… fully penetrant mutation in the Presenilin-1 (PSEN1) gene causes early-onset familial AD (fAD). One of the most intriguing aspects of this pedigree is the broad spectrum of the AD age of onset (ADAOO) that ranges from the earliest 30s to the 80s, and has an average of 48 years. It is …
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Alzheimer's disease: Age of Onset Modifier Genes in the World’s Largest Pedigree
… fully penetrant mutation in the Presenilin-1 (PSEN1) gene causes early-onset familial AD (fAD). One of the most intriguing aspects of this pedigree is the broad spectrum of the AD age of onset (ADAOO) that ranges from the earliest 30s to the 80s, and has an average of 48 years. It is …
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New Insights Regarding the Intracellular Effects, Trafficking, and Quality Control of the Amyloid Precursor Protein: Implications for Alzheimer’s Disease Pathogenesis
… with discrete mutations in three genes: PSEN1 and PSEN2, which encode the presenilin proteins, and APP, which encodes the amyloid precursor protein (APP). Several hypotheses exist for the pathogenesis of AD. According to the amyloid cascade hypothesis, AD pathogenesis is associated with a …
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Investigating β- and γ-secretase function and processing of APP with genetic and pharmacological tools
… tagging of the catalytic subunit of γS (PSEN1), as well as BACE1, with a genetic construct allowing for fluorescent visualization and optogenetic manipulation. I then create and test several genetic constructs that can potentially allow for manipulation of enzymatic function in a …
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Astrocyte and vascular changes contribute to Alzheimer's disease
… express key AD-related genes, including APP, PSEN1, PSEN2, and APOE. While astrocyte gene expression alterations have been observed, the relationship between these transcriptomic changes, protein expression, and cellular function requires further investigation. This dissertation examines …
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The Processing of Amyloid Precursor Protein in the Central Nervous System of Humans and Rhesus Macaques
… Amyloid Precursor Protein: APP), Presenilin-1: PSEN1), or Presenilin-2: PSEN2). Mutation carriers will generally notice cognitive decline starting at a relatively young age, anytime between their 30s-50s, and eventually succumb to this early-onset AD. Early-onset AD may also be the result of an …