Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Parkinson's disease. --- Palsy, Shaking --- Paralysis agitans --- Parkinson disease --- Parkinsonism --- Shaking palsy --- Brain --- Extrapyramidal disorders --- Diseases

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Parkinson's Disease: Molecular Mechanisms Underlying Pathology explores the molecular pathways at the basis of the cellular defects connected to Parkinson's disease, the second most common neurodegenerative disease, and the most common movement disorder. This book presents the latest research on the pathways and mechanisms that have been discovered to play a role in Parkinson's pathology. This focus on mechanisms rather than individual genes allows the contributors to elaborate on overlapping and joint functions of different causative genes. Readers will find descriptions of model systems that present parallels (and differences) between discoveries in different species, demonstrating the importance of multidisciplinary research that spans a broad array of technologies and model organisms. Written from both a cross-methodology and cross-species perspective, the book provides readers with the current state of knowledge on the molecular biology of Parkinson's.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

De ziekte van Parkinson is de tweede meest voorkomende neurodegeneratieve aandoening. De oorzaak van de ziekte is vaak onbekend met meestal verschillende genetische factoren en omgevingsfactoren die bijdragen. In dit onderzoek ligt de focus op de proteïne auxiline, gecodeerd door het DNAJC6-gen. Recent onderzoek heeft namelijk uitgewezen dat mutaties in dit gen een vroege vorm van Parkinson kunnen veroorzaken.Het effect van mutaties in het Drosophila melanogaster orthologe gen auxiline werd onderzocht om meer inzicht te verwerven over Parkinson veroorzaakt door een defect auxilineproteïne. Het doel was erachter te komen of de hoeveelheid auxiline in fruitvliegen met het gemuteerde auxilinegen meer daalt met de leeftijd dan in fruitvliegen zonder de mutatie.

Eindwerken Gezondheidszorg FBT 2018-2019

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

Parkinson’s disease (PD) is a neurodegenerative disorder characterized by the interplay between environmental and genetic factors. The identification of distinct genes as well as risk loci implicated in the pathogenesis of the disease, allow us to model PD using animal models, in order to understand the causatives mechanisms leading to neurodegeneration. Recently, the R258Q mutation was identified in synaptojanin 1 (SYNJ1), and linked with an autosomal inherited form of early-onset Parkinsonism. The presence of a Drosophila homolog of SYNJ1, allows us to efficiently model this PD mutation in Drosophila using genome editing techniques. Here, we describe a strategy to generate a knock-in, expressing mutant synj R228Q, which corresponds to the human mutation. To attain this, we made use of the collection of the Minos mediated integration cassette (MiMIC) insertions. Modification of the endogenous Drosophila synj locus was achieved by a recombination mediated cassette exchange (RMCE) approach based on the use of the PhiC31 integrase system. Moreover, as there is no evidence regarding the effect of this mutation in the function of synaptojanin, we performed a preliminary characterization of the R228Q mutation using the UAS-Gal4 system, in order to recapitulate the PD pathology and get insights into the molecular mechanisms underlying the mutation. Although synaptojanin (Synj) has a well-established role during the process of clathrin mediated recycling of synaptic vesicles, our data did not identify the presence of endocytic defects at the synapse, suggesting that the pathological function of Synj might affect a different cellular process other than endocytosis.

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)