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LMCB - MRC Laboratory for Molecular Cell Biology

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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

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
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)