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 27 for “"LRRK2"”.
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Characterization of Parkinson's Disease-associated LRRK2 Kinase
… 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 common mutation, which replaces …
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LRRK2 Regulates Actin Dynamics in ADP-Treated Microglia
… largely unknown. The present study revealed that LRRK2, a PD-associated gene, regulates the migration of microglia. LRRK2 was located in ruffles, an actin rich structure of moving cells, when ADP induced microglial movement. In immunoprecipation assay, LRRK2 interacted with focal adhesion kinase …
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A NOVEL RIT2-LRRK2 AXIS MODULATES LYSOSOME FUNCTION: INSIGHT FOR PARKINSON'S DISEASE PATHOPHYSIOLOGY
… 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 coinvolge LRRK2, ed il ruolo …
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Auswirkungen des LRRK2-Knockdown durch RNA-Interferenz auf die murine dopaminerge Zelllinie MN9D
Mutationen im Protein LRRK2 wurden im Zusammenhang mit klinischen Symptomen beschrieben, die dem Idiopathischen Parkinsonsyndrom (IPS) nahezu gleichen. So findet sich neben vielen anderen Mutationen die häufigste pathogene Mutation für das IPS im LRRK2-Gen. Die Aufklärung der molekularbiologischen …
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Exploring Parkinson’s disease associated LRRK2 and PINK1/Parkin signal transduction pathways within immune cells
… have genetic, familial forms of the disease2. LRRK2 and PINK1 are two independent genes that respectively cause autosomal dominant and autosomal recessive forms of PD. They both encode protein kinases, which control signal transduction pathways through reversible phosphorylation of target …
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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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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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The effects of the Parkinson’s disease-associated proteins LRRK2 and TMEM175 on the lysosomal profile of cultured mammalian cells under lysosomal stress conditions
… 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 important PD-associated gene …
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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
… 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 the functional effects of two of …
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Sintomi non motori e disautonomia cardiovascolare in pazienti sardi affetti da malattia di parkinson con e senza mutazioni del gene LRRK2
… of genetic mutations related to PD, such as LRRK2 mutations, provides better possibility to identify specific phenotypes both for motor and non-motor symptoms. Obiectives: The main objective of our study was directed to investigate the presence and the correlation of cardiovascular …
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Sex and LRRK2 Genotype Differences in Inflammation and Dopaminergic Neurodegeneration in a Multi-Hit Model of Parkinson's Disease
… additive/synergistic effects of genetic LRRK2 anomalies and environmental risk factors as they pertain to motor behaviour, nigrostriatal dopaminergic degeneration, and neuroinflammation. Moreover, since the male sex represents a significant risk factor in PD, sexual dimorphisms were …
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Enfermedad de Parkinson: caracterización de la región 3UTR de los genes SNCA y LRRK2 y del miRNOMA de tejido cerebral y plasma sanguíneo
… genética en la región 3¿UTR de los genes SNCA y LRRK2 y su posible implicación como factor de riesgo o protección de la enfermedad. El segundo objetivo principal se dirigió a la determinación del perfil de expresión de miRNAs en plasma sanguíneo y tejido cerebral proveniente de pacientes con EP y …
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New Analytical Methodologies at the Frontier of Cellular Lipidomics
… then moved on by investigating the effects that LRRK2, an important and complex protein known to be related to autosomal-dominant forms of the disease, has on sphingolipids. We worked on mouse models, and we compared the sphingolipid profiles of wild-type (Lrrk2+/+) and knock-out (Lrrk2–/–) mice, …
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Heredity in Parkinson's disease. From rare mutations to common genetic risk factors.
… with PD or parkinsonism was examined. The SNCA, LRRK2, EIF4G1, VPS35, PINK1, ATXN2 and ATXN3 genes were analyzed in all probands; the PARKIN, PINK1 and DJ1 genes were tested in a subgroup of 23 patients with young onset or marked heredity. DNA from the brain tissue of 7 patients with parkinsonism …
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Investigating the role of PINK1-dependent Rab signalling in Parkinson's disease
… additional PD-associated pathways, including LRRK2 and VPS35. With the presence of p-Ser111 Rab8A, the ability of LRRK2 to phosphorylate Rab at Thr72 was significantly reduced both in vitro and in cell-based experiments. This demonstrated the first evidence of cross-talk between PINK1 and …
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Polygene Scores für häufige komplexe Erkrankungen und deren Anwendung auf Parkinson
… Polygenic Score and Lifestyle Factors in LRRK2 p.Gly2019Ser Parkinsonism“ beschreibt die Entwicklung eines PGS für PD, welcher auf Varianten beschränkt wurde, die mit der Funktion und Beschaffenheit der Mitochondrien assoziiert sind. Für diesen PGS wurden außerdem Interaktionen mit Tabak- …
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Development and utilization of Luminex biomarker assays for diagnosis and monitoring of neurodegenerative disease
… α-synuclein, total α-synuclein, total DJ-1 and LRRK2 in human CSF and plasma. These proteins are predominantly implicated in diseases collectively termed α-synucleinopathies. The initial aim of the project was to develop assays for proteins that span a range of neurodegenerative disorders, …
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Investigating the Non-globular Proteins of the Canonical Wnt Signalling Pathway
… into the roles of leucine-rich repeat kinase 2 (LRRK2) and the transcription factor TCF7L2 within this signalling pathway. LRRK2 is a large multi-domain protein with strong links to Parkinson’s disease and suggested to play a role in inactivating the BDC in response to the Wnt signal. A recent …
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