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UCL Professor of Molecular Cell Biology
Genetics & Genomic Medicine Dept, UCL GOS Institute of Child Health
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). Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis. Nat Commun 13(1):536. doi: 10.1038/s41467-022-28191-1
Soldati S, et al (2021). Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype. EMBO Molecular Medicine, 13(10): e13742. doi: 10.15252/emmm.202013742
Iwan K, et al (2021). Cerebrospinal fluid neurofilament light levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment. F1000Research 10(614). doi: 10.12688/f1000research.54556.1
Minnis CJ, et al (2021). Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease. Scientific Reports. 11(1) 6332. doi: 10.1038/s41598-021-85471-4
SE Mole, et al (2021). Guidelines on the Diagnosis, Clinical Assessments, Treatment and Management for CLN2 Disease Patients. Orphanet J Rare Dis. 16(185). doi: 10.1186/s13023-021-01813-5
Lourenço CM, et al (2020). Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world. J Paediatr Child Health. 57: 519-525. doi: 10.1111/jpc.15250
K Iwan, et al (2021). Urine proteomics analysis of patients with Neuronal Ceroid Lipofuscinoses. Iscience 24(2) 102020 doi: 10.1016/j.isci.2020.102020
About the lab
Funders
Wellcome Trust
Medical Research Council
EU H2020
Batten Disease Family Association
Biomarin
Batten Disease Support and Research Association USA
Children's Brain Disease Foundation USA
Research themes
Signalling pathways
Membrane trafficking
Disease
Technology
Light microscopy
Translational research
Bioinformatics
Electron microscopy
Microbiology
People
Jose Clemente Ramos (Research Associate)
Christopher Minnis (Research Associate)
Haoyu Zhang (PhD Student)
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