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 20 of 25 for “"MAPT"”.
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An omics study into the molecular impact of autosomal dominant APP and MAPT mutations on the cerebral cortex
… mutations. This dissertation focuses on APP and MAPT mutations causal to early onset AD or FTD, which affect the dosage or isoform ratio balance of the key proteins underlying AD/FTD: amyloid beta and tau. Using a combination of in vitro iPSC-derived neuronal cultures carrying MAPT E10+16 and APP …
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Investigating the effects of tau mutations in induced pluripotent stem cell-derived neurons
Microtubule-associated protein tau (MAPT) is a neuronal protein which promotes microtubule assembly and stabilisation. The MAPT gene is alternatively spliced to give six tau isoforms: three with 3 microtubule-binding repeats (3R, excluding exon 10) and three with 4 microtubule-binding repeats (4R, …
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Cognitive and brain markers in presymptomatic genetic behavioural variant frontotemporal dementia: a case-control study
… family members of a kindred carrying the MAPT genetic variant for behavioural variant frontotemporal dementia (bvFTD-MAPT), who are part of the FTDGeNZ study, with the aim of identifying early behavioural, cognitive and neural changes in gene-positive family members. Study one aimed to …
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Genetic Characterisation of Neurodegenerative disorders
… variation of one of these susceptibility genes, MAPT, that of the microtubule associated protein, tau, is an important genetic risk factor for neurodegenerative diseases. There are two major MAPT haplotypes at 17q21.31 designated as H1 and H2. In order to dissect the relationship between MAPT …
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A performance linked management accounting typology within contingency and institutional frameworks in the Malaysian manufacturing industry.
… system (MAS)/Management accounting techniques (MAPT)-type group. The final aims is to model and test a set of predictors of the better and weaker performing MAS/MAPT-type groups of firms. --p. xvi.
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Dementia in Parkinson s Disease: relationship between clinical and neurobiological aspects
… per valutare il possibile ruolo degli aplotipi MAPT nel determinare l'espressione del profilo motorio e non-motorio nei pazienti con PD, prima dello sviluppo di demenza. I risultati di questo studio suggeriscono un ruolo dell aplotipo H1 MAPT in tutto il corso della malattia, agendo come cuneo …
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Connectivity biomarkers in neurodegenerative tauopathies
… but has a genetic association with the MAPT gene encoding tau. Understanding the tauopathies to develop effective treatments will require a better grasp of the relationships between clinical syndromes and cognitive measures and how the anatomical and neurochemical networks that underlie …
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Modelos de avaliação do turismo enquanto fenómeno global: o arquipélago da Madeira como estudo de caso paradigmático
… Modelo de Avaliação do Processo Turístico (MAPT). A amostra utilizada para a recolha dos dados era constituída por agentes do turismo (n=45) do Arquipélago da Madeira e a avaliação compreendia o período entre os anos 1980 e 2009. Este intervalo de tempo corresponde ao período de maior …
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Positron emission tomography in vivo characterisation of the pathology of frontotemporal dementia
… the FTLD-tau pathology in a case of FTD due to a MAPT 10+16 mutation in the microtubule associated protein tau, and a second pre-symptomatic case with the same mutation; (ii) [18F]AV-1451 imaging of a cohort of seven cases with Semantic Dementia and one case of FTD from a C9orf72 expansion, both …
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Genetic determinants of cognitive heterogeneity in Parkinson’s disease
… (SNCA), microtubule-associated protein tau (MAPT) and dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A). Specifically, I was interested in the genetic contribution to early cognitive decline characteristic of PD (executive function, semantic memory, and episodic verbal …
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Heredity in Parkinson's disease. From rare mutations to common genetic risk factors.
… confirmed that common variants in the SNCA and MAPT genes modify PD risk, and was large enough to refute gene-gene interaction between the MAPT and SNCA variants. These results suggest that specific mutations in PD-genes cause characteristic disease subtypes. Despite extensive screening and a …
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The Biological Basis of Heterogeneity in Parkinson's Disease - Insights from an Innate Immune Perspective.
… 41 early PD patients and 41 age, gender and MAPT genotype matched paired controls, with the PD patients categorised into 2 groups based on the presence of previously identified clinical and genetic risk factors for the development of an early dementia (impaired semantic fluency, pentagon …
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RNA-based therapeutic approaches for FTDP-17
… mutations in Microtubule associated protein tau (MAPT) gene (Esther et al., 2002). This PhD thesis focuses on developing RNA-based therapeutic approaches to address FTDP-17. CHAPTER 1 introduces a broad range of topics such as splicing mechanism, neurodegenerative diseases associated with splice …
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A molecular analysis of the relation between TDP-43 and tau pathology
… mRNA which is caused by several mutations in the MAPT gene, encoding tau. Processing of the Amyloid Precursor Protein (APP) generates P- amyloid (Ap) peptides which are deposited as amyloid plaques in AD brain. APP transcripts containing alternatively spliced exon 7 are increased in AD brain and …
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Analysing the biological function of PS2V: an aberrant splicing phenomenon or evolutionarily conserved mechanism in Alzheimer’s disease
… identified two paralogues (co-orthologues) of MAPT in zebrafish, denoted mapta and maptb and have shown that both genes are expressed in the developing central nervous system. In chapter VI we extend our examination of expression of the zebrafish tau co-orthologues to study their response to …
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Mechanistic Investigation into the Regulation of Amyloid Motifs in Tau Aggregation and Disease
… tauopathies. Missense mutations in the tau gene (MAPT) correlate with aggregation propensity and cause dominantly inherited tauopathies, but the molecular mechanism of how they promote tau assembly into amyloids is poorly understood. Many disease-associated mutations localize within tau's repeat …
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UNRAVELLING THE MOLECULAR BASIS OF ALZHEIMER¿S DISEASE AND FRONTOTEMPORAL DEMENTIA: GENETIC AND EPIGENETIC APPROACH THROUGH NEXT GENERATION SEQUENCING AND OPENARRAY TECHNOLOGIES
… patients carrying mutations in C9ORF72, GRN and MAPT genes, and 10 control subjects, using OpenArray technology. Following the genetic study, a total of 35 variants were found in 36 over 188 patients screened. Some of these variants occurred in causative genes or in genetic risk factors …
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Blood Biomarkers of Presymptomatic Frontotemporal Dementia
… in the microtubule-associated protein tau (MAPT) gene, provides insights into presymptomatic FTD. Six family members carry the FTD-causing mutation, with the remaining members serving as non-carrier controls. In this research, we conducted case-control analyses to identify plasma-derived …
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DEVELOPMENT OF MOLECULAR PROBES ACTING ON aSYN/TUBULIN AND TAU/TUBULIN INTERACTION
… PD of single nucleotide polymorphisms in the MAPT locus, containing the gene coding for the Tau protein, a microtubule-binding protein that is predominantly expressed in neurons. The evidence of Tau pathology in PD is striking and contributes to neuronal dysfunction, impairment of axonal …
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Identifying Endogenous Drivers of Chronic Disease Using Novel Computational Methods
… linked to the expression of genes, including MAPT (Tau). Our efforts suggest that CS and TEs are bidirectional mutual activators that amplify each other, while also contributing to disease and inflammaging. CS drives NF-κB internally and in neighboring cells. We show that TEs are broadly …
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