XClose

LMCB - Laboratory for Molecular Cell Biology

Home
Menu
Sara Mole's picture
LMCB Group Leader, UCL Professor of Molecular Cell Biology
 
+44 (0)20 7679 7257
LMCB Room B105
 
NCL Mutation Database | BATCure | Facebook Sara Mole | Twitter @SaraEMole
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.

Mole lab research image

Mole lab research image

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
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
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