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LMCB Group Leader, UCL Professor of Molecular Cell Biology
+44 (0)20 7679 7257
LMCB Room B105
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
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
kleine Holthaus SM, et al (2020). Gene Therapy Targeting the Inner Retina Rescues the Retinal Phenotype in a Mouse Model of CLN3 Batten Disease. Hum Gene Ther. 2020 31: 709-718. doi: 10.1089/hum.2020.038
Gardner E, et al (2019). Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease. Hum Mutat. 40(11): 1924-1938. doi: 10.1002/humu.23860
kleine Holthaus SM, et al (2019). Neonatal brain-directed gene therapy rescues a mouse model of neurodegenerative CLN6 Batten disease. Hum Mol Genet. 28(23) 3867-3879. doi: 10.1093/hmg/ddz210
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)
Yaxuan Lyu (PhD Student)
Collaborators
Robin Ketteler (LMCB, UK)
Chris Stefan (LMCB, UK)
Robin Ali (KCL, UK)
Ahad Rahim (UCL, UK)
Paul Gissen (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
Mina Ryten (UCL, UK)
Rick Livesey (UCL, UK)