UK Parkinson's Disease Consortium - UKPDC
- Principal Investigators
- Research Groups
- Cell Physiology
- Clinical Neuroscience
- Clinical Studies
- Drosophila Genetics
- Molecular Biology and Biochemistry
- Molecular Neuropathology
- Neurological Biochemistry
- Neurological Signalling
- Protein Phosphorylation
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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...
(Former Post-doctoral Researcher)
I studied Biotechnology at the University of Applied Sciences in Vienna and finished my studies in June 2007. As part of my degree I was working on a 10-months ERASMUS studentship at the Institute of Phsychiatry (King's College London). My work at the IoP was carried out in Dr. Jonathan Cooper's lab which is investigating a group of lysosomal storage disorders called Batten Disease. After finishing my degree I stayed on in the Cooper lab as a PhD student investigating cell renewal (neurogenesis) and microglial biology in various models of Batten Disease. In February 2011 I joined the Department of Molecular Neuroscience where I am working under the supervision of Dr. Patrick Lewis. Within my project I am aiming to characterise the functions and properties of MASL1, one of the ROCO proteins which have an involvement in Parkinson Disease and other disorders.
Link to publications
|Mamais, A; Raja, M; Manzoni, C; Dihanich, S; Lees, A; Moore, D; ... Bandopadhyay, R; + view all Mamais, A; Raja, M; Manzoni, C; Dihanich, S; Lees, A; Moore, D; Lewis, PA; Bandopadhyay, R; - view fewer (2013) Divergent α-synuclein solubility and aggregation properties in G2019S LRRK2 Parkinson's disease brains with Lewy Body pathology compared to idiopathic cases. Neurobiol Dis 10.1016/j.nbd.2013.05.017. |
|Manzoni, C; Mamais, A; Dihanich, S; Tooze, S; Bandopadhyay, R; Lewis, PA; (2013) LRRK2 regulates autophagy. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 10 - 10). |
|Dihanich, S; (2012) MASL1: a neglected ROCO protein. Biochem Soc Trans , 40 (5) 1090 - 1094. 10.1042/BST20120127. |
|Jebelli, JD; Dihanich, S; Civiero, L; Manzoni, C; Greggio, E; Lewis, PA; (2012) GTP binding and intramolecular regulation by the ROC domain of Death Associated Protein Kinase 1. Sci Rep , 2 695 - ?. 10.1038/srep00695. |
|Dihanich, S; Manzoni, C; (2011) LRRK2: A Problem Lurking in Vesicle Trafficking? J NEUROSCI , 31 (27) 9787 - 9788. 10.1523/JNEUROSCI.1976-11.2011. |
|Kielar, C; Wishart, TM; Palmer, A; Dihanich, S; Wong, AM; Macauley, SL; ... Gillingwater, TH; + view all Kielar, C; Wishart, TM; Palmer, A; Dihanich, S; Wong, AM; Macauley, SL; Chan, CH; Sands, MS; Pearce, DA; Cooper, JD; Gillingwater, TH; - view fewer (2009) Molecular correlates of axonal and synaptic pathology in mouse models of Batten disease. HUM MOL GENET , 18 (21) 4066 - 4080. 10.1093/hmg/ddp355. |
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