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UCL Professor of Molecular Cell Biology
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Neuronal ceroid-lipofuscinoses / Batten disease
Research synopsis
The Mole lab is interested in disease caused by genetic changes, and how study of these mutations and their effects can reveal important and complex aspects of cell biology that may otherwise be beyond current appreciation.
We are particularly interested in neurodegenerative diseases. We focus on lysosomal disorders, especially the neuronal ceroid lipofuscinoses (NCLs) or Batten disease, which are inherited neurodegenerative diseases that start in childhood. We work along the full translational pathway, studying their genetics and biology, and are developing new and much-needed therapies. Our work will help to provide new therapeutic targets for all types of neurodegeneration.
Selected publications
Lopez-Fabuel I, et al (2022). . Nat Commun 13(1):536. doi: 10.1038/s41467-022-28191-1
Soldati S, et al (2021). . EMBO Molecular Medicine, 13(10): e13742. doi: 10.15252/emmm.202013742
Iwan K, et al (2021). . F1000Research 10(614). doi: 10.12688/f1000research.54556.1
Minnis CJ, et al (2021). . Scientific Reports. 11(1) 6332. 听doi: 10.1038/s41598-021-85471-4
SE Mole, et al (2021). . Orphanet J Rare Dis. 16(185). doi: 10.1186/s13023-021-01813-5
Louren莽o CM, et al (2020). . J Paediatr Child Health. 57: 519-525. doi: 10.1111/jpc.15250
K Iwan, et al (2021). . Iscience 24(2) 102020 doi: 10.1016/j.isci.2020.102020
About the lab
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Funders
Wellcome Trust
Medical Research Council听
EU H2020
Batten Disease Family Association
Biomarin
Batten Disease Support and Research Association USA
Children's Brain Disease Foundation USA
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Research themes
Signalling pathways
Membrane trafficking
Disease
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Technology
Light microscopy
Translational research
Bioinformatics
Electron microscopy
Microbiology
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People
Jose Clemente Ramos (Research Associate)
Christopher Minnis (Research Associate)
Haoyu Zhang (PhD Student)
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Collaborators
Robin Ketteler (LMCB, UCL, UK)
Chris Stefan (LMCB, UCL, UK)
Robin Ali (KCL, UK)
Ahad Rahim (SOP, UCL, UK)
Paul Gissen (GOS ICH, UCL, UK)
Mina Ryten (GOS ICH, UCL, UK)
Tris McKay (Manchester Metropolitan University, UK)
Thomas Wishart (Roslin Institute, UK)
Emyr Lloyd-Evans (Cardiff University, UK)
Angela Schulz (University Medical Centre Hamburg-Eppendorf, Germany)
Diego Medina (Telethon Insitute of Genetics and Medicine, Italy)
Juan Bolanos (University of Salamanca, Spain)
Claire Russell (Royal Veterinary College, UK)
Jonathan Cooper (Washington University, USA)
Andrew Quigley, Diamond Light Source
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