UK Parkinson's Disease Consortium - UKPDC
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- Neurological Biochemistry
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In this paper Claudia Manzoni studies how fibroblast
cells from people with Parkinson’s disease caused by mutations in LRRK2
react to starvation. Although the changes are quite subtle, there are
differences between the way that fibroblasts that contain mutant LRRK2
respond to being starved – suggesting that there may be changes in the
way that these cells regulate a key process called autophagy (a term
which comes from the greek meaning to eat yourself, and is one of the
ways that cells get rid of waste and recycle proteins and organellles).
Research led by consortium researchers Dr Helene Plun-Favreau (UCL Institute of Neurology) and Dr Alex Whitworth (University of Sheffield), and collaborator Dr Heike Laman (University of Cambridge), has discovered how genetic mutations linked to Parkinson’s disease might play a key role in the death of brain cells, potentially paving the way for the development of more effective drug treatments. In the new study, published in Nature Neuroscience, the team of cross-institutional researchers showed how defects in the Parkinson’s gene Fbxo7 cause problems with mitophagy. More...
Mutations in LRRK2 are the most common genetic cause of Parkinson’s disease. Here, Claudia Manzoni talks about her research (funded by the Rosetrees Trust and the Michael J. Fox Foundation) into what LRRK2 might be doing within the cell: Parkinson’s disease is a brain illness that afflicts 1 in 500 people in the UK. High profile patients, such as the actor Michael J Fox, the boxer Muhammad Ali and the late Pope John Paul II, have raised public awareness of Parkinson’s and its devastating impact. More...
Dr Laura Osellame tells us about her recent paper in Cell Metabolism about Mitochondrial dysfunction linked to loss of an enzyme called GBA: Gaucher Disease (GD) is a rare inherited disease, belonging to the family of lysosomal storage disorders. Mutations in the gene glucocerebrosidase (GBA) are responsible for the disease and can increase susceptibility to Parkinson’s disease (PD). Genetic studies undertaken at UCL and other hospitals around the world suggest that mutations in GBA are the most common genetic risk factor currently known for PD. More...
First author Adamantios Mamais tells us about his recent publication in Neurobiology of Disease: At the Queen Square Brain Bank (part of the UCL Institute of Neurology) we hold a large collection of post-mortem human brain tissue from patients with neurodegenerative diseases including Parkinson’s disease (PD); a debilitating neurological disorder that affects the central nervous system. In the United States alone about 50,000 new cases are reported every year. The main symptoms include tremor, slow movement, rigid limbs and a shuffling gait while these worsen with time. More...
(MRC Research Fellow)
My scientific career has always followed my interest in signalling pathways in normal as well as in pathological conditions. During the three years of my PhD work at INSERM U564 in Angers, France, I received specialist training on cellular biology and biochemistry. My graduate work allowed me to identify a new cytokine in the Interleukin-6 family responsible for motor neuron survival. I then focused on the structure of the cytokines of this family, which allowed me to be acquainted with modelling studies, as well as on the specific signalling pathways influenced by these molecules. I graduated in December 2002 and then decided to pursue my career in a signal transduction laboratory. Being aware of both Cancer Research UK and Julian Downward’s renown, I joined his laboratory in 2002 as a post-doctoral fellow. During that period, I have been led to work on apoptosis and Parkinson’s Disease (PD). I studied the regulation of HtrA2 by PINK1, two mitochondrial proteins implicated in PD.
My ambitions were to pursue academic scientific-clinical research in the PD field. Having been awarded a career development award in September 2007, I am currently leading the Neurological Signaling Group in the Molecular Neuroscience department of the Institute of Neurology, UCL. The major interest of my group is to dissect the molecular pathways implicated in PDesearcherID
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