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 11 of 11 for “"Leucine-rich repeat kinase 2"”.
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Exploring the role of Leucine Rich Repeat Kinase 2 within the innate immune system
Leucine rich repeat kinase 2 (LRRK2) is a 286 kDa protein expressed in a variety of tissues and cell types, including neuronal tissue and innate immune cells. Mutations in LRRK2 have been linked to inflammatory diseases, most notably Crohn’s disease and Parkinson’s disease. Further to this, LRRK2 …
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LEUCINE-RICH REPEAT KINASE 2 (LRRK2) AT THE CROSSROAD OF INSULIN SIGNALLING AND PARKINSON S DISEASE
Leucine-Rich Repeat Kinase 2 (LRRK2) is a large protein encompassing multiple functional domains, including kinase and GTPase enzymatic activity and several protein-protein interaction modules. It is expressed in the central nervous system (CNS) and it is among the most important genetic risk …
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A clinical and molecular genetic study into familial and sporadic Parkinson’s Disease
… role of a recently identified hereditary PD gene leucine rich repeat kinase 2 (LRRK2) in PD in the United Kingdom (UK). In this thesis I have confirmed the importance of pathogenic LRRK2 mutations in UK familial PD (fPD). In addition I identified three novel frameshift mutations. I investigated …
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A NOVEL RIT2-LRRK2 AXIS MODULATES LYSOSOME FUNCTION: INSIGHT FOR PARKINSON'S DISEASE PATHOPHYSIOLOGY
… di Parkinson (PD). L’attività chinasica di Leucine-rich repeat kinase 2 (LRRK2) modula autofagia e funzionalità lisosomiale, e la sua inibizione farmacologica è protettiva per neurodegenerazione e patologia di α-sinucleina (αSyn). Tuttavia, rimane da chiarire la via di segnalazione che …
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α-Synuclein phosphorylation and related kinases in Parkinson’s disease
… phosphorylated at serine 129 (S129P). Several kinases have been suggested to facilitate α-synuclein phosphorylation in PD, but without significant human data the changes that precipitate such pathology remain conjecture. The major aims of this project were to assess the dynamic changes of …
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The effects of the Parkinson’s disease-associated proteins LRRK2 and TMEM175 on the lysosomal profile of cultured mammalian cells under lysosomal stress conditions
… to be involved in autophagy-lysosome pathways. Leucine-rich repeat kinase 2 (LRRK2) has been found as the most common genetic risk factor for PD. LRRK2 is involved in various cellular processes, including cell signalling, vesicle trafficking, and the maintenance of lysosomal homeostasis. Another …
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Mutazione LRRK2-G2019S all'interfaccia dell'interazione astrocita- neurone durante lo sviluppo post natale e l'invecchiamento
Mutazioni del gene Leucine rich repeat kinase 2 (LRRK2) rappresentano le più comuni mutazioni nelle forme ereditarie di morbo di Parkinson (MP), una tra le più comuni malattie neurodegenerative, caratterizzata dalla morte progressiva dei neuroni dopaminergici mesencefalici (mDAn) della substantia …
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Investigating the Non-globular Proteins of the Canonical Wnt Signalling Pathway
… of adult tissues. The twelve Armadillo (ARM) repeat-containing protein beta-catenin acts as the signal transducer in this pathway and is continuously degraded in the cytosol by the beta-catenin destruction complex (BDC). Upon receiving the Wnt signal the BDC is inactivated, allowing …
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Investigation of the phenotypic and genotypic determinants of disease susceptibility and progression in Crohn’s Disease
… locus in a recent GWAS, tagging SNPs across the leucine rich repeat kinase-2 (LRRK2) gene, near the MUC19 gene, were also genotyped and examined in the Dundee cohort for an association with IBD, CD and UC susceptibility, but was also negative when corrected for multiple testing. The studies …
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Characterization of Parkinson's Disease-associated LRRK2 Kinase
… neurons in the substantia nigra. Mutations in leucine-rich repeat kinase 2 (LRRK2) have been linked to autosomal familial and sporadic PD. It is now estimated that approximately 1% of Parkinson’s disease (PD) results from mutations in LRRK2. Previous studies have established that the most …