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...
I hold a multi-disciplinary research background having had the opportunity to study and investigate many aspects of cell biology leading to human disease. Having completed a BSc in Molecular Biology at University College London in 2001, I pursued an MSc in Molecular Medicine, at the same university, that equipped me with a deeper understanding of the underlying mechanisms and consequences that give rise to pathology, when the blue-prints of nature go wrong.
My academic studies cultivated my enthusiasm on the molecular events of human disease, while I had the chance to work on proteins involved in gastrulation and synaptic neurotransmission, and also tumour targeting drugs, during my BSc/MSc research projects respectively. During a summer placement at the UCL Institute of Neurology I was involved in a project investigating the mechanistics of filopodia formation in developing neurons. I then joined the Institute of Cancer Research for two years as a Scientific Officer to investigate nucleosomal positioning and chromatin remodelling mechanisms in V(D)J recombination. In 2005 I focused my research skills and experience in pursuing a PhD at the UCL Institute of Neurology, in the lab of Prof Louis Lim and Dr Christine Hall, investigating novel mechanisms of interplay between cytoskeletal remodelling factors involved in neuronal differentiation and mRNA binding factors involved in local translation in axons and formation of Stress Granules.
In 2010, I joined the team of Dr Rina Bandopadhyay and Dr Patrick Lewis at the Reta Lila Weston Institute, UCL Institute of Neurology, as a post-doc Research Associate, and I am currently investigating the molecular events that underlie LRRK2 associated Parkinson’s disease. My research utilises the invaluable resource of post-mortem human brain tissue from Parkinson’s cases, provided by the Queen Square Brain Bank. We are focusing on the post-translational modifications and neuropathological features of two LRRK2 putative partners in disease, a-Synuclein and 4E-BP1. Furthermore, I have initiated a novel project investigating the role of mutated LRRK2 in mRNA Stress Granule formation, recently involved in pathologic protein aggregation in neurodegenerative diseases.
|Link to publications|
|Brelstaff, J; Mamais, A; Lashley, T; Holton, JL; Revesz, T; Bandopadhyay, R; (2013) The aggregate proteins of FTLD-FUS are re-localised to stress granules upon oxidative stress. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 46 - 47). |
|Manzoni, C; Mamais, A; Dihanich, S; Tooze, S; Bandopadhyay, R; Lewis, PA; (2013) LRRK2 regulates autophagy. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 10 - 10). |
|Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; ... Lewis, PA; + view all Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; McGoldrick, P; Chan, D; Dillman, A; Zerle, J; Horan, S; Taanman, JW; Hardy, J; Marti-Masso, JF; Healy, D; Schapira, AH; Wolozin, B; Bandopadhyay, R; Cookson, MR; van der Brug, MP; Lewis, PA; - view fewer (2012) Correction: Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 7 (1) , Article e22489. 10.1371/annotation/c12e4f9e-5aae-424b-a69f-fddf16976dc5. |
|Trancikova, A; Mamais, A; Webber, PJ; Stafa, K; Tsika, E; Glauser, L; ... Moore, DJ; + view all Trancikova, A; Mamais, A; Webber, PJ; Stafa, K; Tsika, E; Glauser, L; West, AB; Bandopadhyay, R; Moore, DJ; - view fewer (2012) Phosphorylation of 4E-BP1 in the mammalian brain is not altered by LRRK2 expression or pathogenic mutations. PLoS One , 7 (10) , Article e47784 . 10.1371/journal.pone.0047784. |
|Ahmed, Z; Doherty, K; Silveira-Moriyama, L; Bandopadhyay, R; Lashley, T; Mamais, A; ... Revesz, T; + view all Ahmed, Z; Doherty, K; Silveira-Moriyama, L; Bandopadhyay, R; Lashley, T; Mamais, A; Hondhamuni, G; Newcombe, J; O'Sullivan, SS; Wroe, S; De Silva, R; Holton, JL; Lees, AJ; Revesz, T; - view fewer (2011) GLOBULAR GLIAL TAUOPATHIES: AN EMERGING GROUP OF 4-REPEAT TAUOPATHIES PRESENTING WITH MOTOR NEURON DISEASE OR FRONTOTEMPORAL DEMENTIA. In: EUROPEAN JOURNAL OF NEUROLOGY. (pp. 22 - 22). WILEY-BLACKWELL |
|Ahmed, Z; Doherty, KM; Silveira-Moriyama, L; Bandopadhyay, R; Lashley, T; Mamais, A; ... Revesz, T; + view all Ahmed, Z; Doherty, KM; Silveira-Moriyama, L; Bandopadhyay, R; Lashley, T; Mamais, A; Hondhamuni, G; Wray, S; Newcombe, J; O'Sullivan, SS; Wroe, S; de Silva, R; Holton, JL; Lees, AJ; Revesz, T; - view fewer (2011) Globular glial tauopathies (GGT) presenting with motor neuron disease or frontotemporal dementia: an emerging group of 4-repeat tauopathies. ACTA NEUROPATHOL , 122 (4) 415 - 428. 10.1007/s00401-011-0857-4. |
|Bandopadhyay, R; Mamais, A; Lashley, T; Griffiths, C; Goswami, N; Holton, JL; ... Lees, AJ; + view all Bandopadhyay, R; Mamais, A; Lashley, T; Griffiths, C; Goswami, N; Holton, JL; Revesz, T; Lees, AJ; - view fewer (2011) The role of 4E-BP1, a putative LRRK2 interactor in the pathology of IPD and in G2019S LRRK2 mutation cases. In: NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY. (pp. 21 - 21). WILEY-BLACKWELL PUBLISHING, INC |
|Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; ... Lewis, PA; + view all Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; McGoldrick, P; Chan, D; Dillman, A; Zerle, J; Horan, S; Taanman, JW; Hardy, J; Marti-Masso, JF; Healy, D; Schapira, AH; Wolozin, B; Bandopadhyay, R; Cookson, MR; van der Brug, MP; Lewis, PA; - view fewer (2011) Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 6 (7) , Article e22489. 10.1371/journal.pone.0022489. |
|Bandopadhyay, R; Phan, B; Mamais, A; Lashley, T; Lees, A; (2010) Validation of 4E-BP1 as a Putative LRRK2 Substrate: In Vivo Evidence. In: MOVEMENT DISORD. (pp. S629 - S629). WILEY-LISS |
|Mamais, A.; (2010) Investigation of an N5-glutamine methyltranferase, a novel partner of α2-chimaerin. Doctoral thesis, UCL (University College London). |
|Heckman, CA; Demuth, JG; Deters, D; Malwade, SR; Cayer, ML; Monfries, C; Mamais, A; (2009) Relationship of p21-Activated Kinase (PAK) and Filopodia to Persistence and Oncogenic Transformation. J CELL PHYSIOL , 220 (3) 576 - 585. 10.1002/jcp.21788. |
|Nightingale, KP; Baumann, M; Eberharter, A; Mamais, A; Becker, PB; Boyes, J; (2007) Acetylation increases access of remodelling complexes to their nucleosome targets to enhance initiation of V(D)J recombination. NUCLEIC ACIDS RES , 35 (18) 6311 - 6321. 10.1093/nar/gkm650. |
|Baumann, M; Mamais, A; McBlane, F; Xiao, H; Boyes, J; (2003) Regulation of V(D)J recombination by nucleosome positioning at recombination signal sequences. EMBO J , 22 (19) 5197 - 5207. |
|Cowan, DA; Russell, NJ; Mamais, A; Sheppard, DM; (2002) Antarctic Dry Valley mineral soils contain unexpectedly high levels of microbial biomass. EXTREMOPHILES , 6 (5) 431 - 436. 10.1007/s00792-002-002-0276-5. |
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