Global ETD Search
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Showing 1 to 20 of 21 for “"Presenilin-1"”.
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Characterization of a novel interaction between presenilin-1 and monoamine oxidase-A
… been linked to gain-of-function mutations in the presenilin-1 (PS-1) protein that not only promote the generation of the toxic amyloid-β peptide, but that also alter intracellular Ca²⁺ availability. Radioenzymatic MAO assays were used to demonstrate that over-expression of different AD-related …
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Vergleichende Untersuchung des Reelinsignalweges bei Wildtyp- und Presenilin-1-Knockoutmäusen während der embryonalen Hirnentwicklung
Ein Defekt im Presenilin-1-Gen führt zum Phänotyp der Lissenzephalie Typ 2. Es ist bekannt, dass die Reelinexpression in Presenilin-1-Knockoutmäusen vermindert ist. In dieser Arbeit wurde untersucht, ob der Reelin-Dab1-Signaltransduktionsweg ebenfalls beeinflusst ist. Dazu wurden die Veränderungen …
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Charakterisierung des mit der Alzheimer Krankheit assoziierten Genprodukts Presenilin 1 und Interaktion mit beta-Catenin
… Fragestellungen bearbeitet, die sich auf das Presenilin 1 Protein allgemein, auf dessen Prozessierung zu C- und N-terminalen Fragmenten und die physiologisch vorliegende Form als Heterodimer bezogen. Es wurde untersucht, unter welchen Bedingungen sich Volllängen-PS1 Protein und PS1-Fragmente …
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Untersuchung zur intrazellulären Ca 2+ -Homöostase an hippokampalen Neuronen von PS1- und App-Maus-Mutanten
Mutationen in den Genen Presenilin 1 und 2 (PS1, PS2) sowie im Amyloid-Precursor-protein (App)gehen mit der autosomal-dominant vererbten Alzheimer Krankheit einher. In neuronalen Zellen von Mäusen, die eine PS1-Mutation tragen, löst eine derartige Mutation eine verstärkte Ca 2+ -Freisetzung aus dem …
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Modeling Alzheimer's Disease Using CRISPR/CAS9 Gene Editing and Induced Pluripotent Stem Cells Reveals Conserved Cellular Mechanisms
… (APP), and 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 …
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Regulators of autophagy in Leishmania major
… interactions. To analyse the role of a predicted presenilin-1 (PS1) homologue in L. major, Δps1 null mutants were generated. These mutants were not defective in their ability to differentiate into infective metacyclic promastigotes, and could establish infections in vivo and in vitro, …
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Evaluation of selective γ-secretase inhibitors as novel modulators of TNF-α-mediated apoptosis
The presenilin proteins (presenilin 1 and presenilin 2) were identified in mutagenesis screens causing the early onset forms of familial Alzheimer’s disease (FAD) in 1995. Subsequently characterized as the catalytic subunits of the γ-secretase protease complexes, the presenilins are responsible for …
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Modulation of neuronal ryanodine receptor-mediated calcium signaling by calsenilin
… in early-onset familial Alzheimer disease (AD), presenilin 1 and presenilin 2. Several studies have shown overexpression of calsenilin to alter Ca2+ signaling and cell viability in several neuronal cell models of AD. In this study, we show that calsenilin directly interacts with the ryanodine …
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The role of phospholipase D1 in trafficking and processing of amyloid precursor protein
… it modulates the trafficking of APP and presenilin 1, the catalytic subunit of gamma secretase. Here, we investigate the role of PLD1 in the biology of APP as well as in an AD mouse model. We report that removing PLD1, unlike PLD2, causes a dramatic decrease in brain levels of PA, …
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Alzheimer's disease: Age of Onset Modifier Genes in the World’s Largest Pedigree
… (E280A) 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 …
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Alzheimer's disease: Age of Onset Modifier Genes in the World’s Largest Pedigree
… (E280A) 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 …
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Presenilins Modulate Cellular Activity of Ryanodine Receptors
Payne, Andrew J., Presenilins Modulate Cellular Activity of Ryanodine Receptors. Doctor of Philosophy (Biomedical Sciences), December, 2012, 160 pp., 7 tables, 39 figures, bibliography 241 titles. Ryanodine Receptors (RyRs) are large, endoplasmic reticulum (ER) intracellular calcium channels in …
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Familial Alzheimer's Disease Mutations in Presenilins Disrupt Endoplasmic Reticulum Calcium Leak
… factors for developing AD are age, mutations in presenilins (PS1 and PS2), mutations in the amyloid precursor protein (APP), cardiovascular diseases, open heart surgery, diabetes, brain injury/head trauma, Apolipoprotein E-e4 (APOE-e4) and the (P86L) mutation in the CALHM1(Calcium homeostasis …
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Eyelid conditioning in mice reveals an interaction between stress and familial Alzheimer's disease
… expressing mutant Amyloid Precursor Protein, Presenilin-1 (PS1) and tau proteins were conditioned at ages ranging from 3-16 months. Mutants displayed more rapid learning compared to controls at all ages tested. Additionally, 3xTg mice produced greater acoustic startle. Both behavioral …
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Untersuchung genetischer und geschlechtlicher Einflüsse in der Alzheimerpathologie anhand des Maustiermodells 5XFAD
… Precursor Protein) und zwei PS1-Mutationen (Presenilin-1) beinhaltet, erstmals quantitativ mittels stereologischer Untersuchungstechniken auf Neuronenverlust und Hirnvolumenminderung im Frontalkortex im Alter von sechs Monaten, sowie auf geschlechtliche Unterschiede und genetische Einflüsse …
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Characterisation of transgenic mouse models of Alzheimer's disease
… precursor protein (Swedish APP K670N/M671L), presenilin 1 (PS1M146V) and tau (TauP301L) which results in the development of pathological features simlar to the plaques and tangles observed in human AD. The TASTPM mouse carries both the APP K670N/M671L and PS1M146V mutations but does not …
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Investigation of selected autophagic proteins and the effect of tPS1-GFP expression.
… the autophagic process had failed to clear the presenilin-1 aggregates as would be expected in the normal state and appeared to lead to cell death. The work presented in this thesis primarily attempts to investigate, in term of subcellular localization, the influence of truncated PS1, expressed …
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Modeling Alzheimer's Disease in Induced Pluripotent Stem Cells
… key genes: 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 …
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Novel Optical Tools to Investigate Presenilin Control of Neurotransmission
… we investigate the controversial hypothesis that Presenilins are ER Ca<sup>2+</sup> leak channels to determine if a role in ER Ca<sup>2+</sup> leak can explain the previously described regulation of neurotransmission by Presenilins. While Presenilins are best known for their involvement in …
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