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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 @BatCure
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. The molecular basis for most late-onset cases of neurodegenerative diseases is unknown. A small percent is genetic, however, often causing earlier onset. Some of these genes have been identified, and combinations of variations in them are likely to contribute to later onset disease. Identifying and characterising the biology of all neurodegenerative genes will give invaluable information on pathways that lead to neurodegeneration. These pathways will provide new therapeutic targets to delay onset of neurodegeneration.

Selected Publications

Bond ME, et al (2015). A central role for TOR signalling in a yeast model for juvenile CLN3 disease. Microbial Cell, 2 (12), 466-480. doi:10.15698/mic2015.12.241
Williams RE & Mole SE (2012). New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses Neurology, 79 (2), 183-191. doi:10.1212/WNL.0b013e31825f0547
Mole SE (2011). Mutations in NCL genes. In S. E. Mole, R. E. Williams, H. H. Goebel (Eds.), The Neuronal Ceroid Lipofuscinoses (Batten Disease) (pp. 340-342). Oxford University Press.
Nosková L, et al (2011). Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. Am J Hum Genet, 89 (2), 241-252. doi:10.1016/j.ajhg.2011.07.003
Arsov T, et al (2011). Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6Am J Hum Genet, 88 (5), 566-573. doi:10.1016/j.ajhg.2011.04.004
Kitzmüller C, et al (2008). A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis (JNCL)Human Molecular Genetics, 17, 303-312. doi:10.1093/hmg/ddm306

Funders

Wellcome Trust
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

People

Elisa Tinelli (Postdoctoral Research Associate)
Sara Alam (Postdoctoral Research Associate)
Sophia Kleine Holthaus (Postdoctoral Research Associate)
Mikel Aristorena (Postdoctoral Research Associate)
Christopher Minnis (PhD Student)
Yaxuan Lyu (PhD Student)
 

Collaborators

Paul Gissen (LMCB, UK)
Robin Ketteler (LMCB, UK)
Robin Ali (UCL, UK)
Ahad Rahim (UCL, UK)
Robert Harvey (UCL, UK)
Tris McKay (Manchester Metropolitan University, UK)
Thomas Wishart (Roslin Institute, UK)
Emyr Lloyd-Evans (Cardiff University, UK)
Heather Band (Batten Disease Family Association, UK)
Angela Schulz (University Medical Centre Hamburg-Eppendorf, Germany)
Torbjorn Lundstedt (AcureOmics, Sweden)
Maija Dambrova (Latvian Institute of Organic Synthesis, Latvia)
Diego Medina (Telethon Insitute of Genetics and Medicine, Italy)
Juan Bolanos (University of Salamanca, Spain)
Jan Kehr (Pronexus Analytics, Sweden)
Claire Russell (Royal Veterinary College, UK)
Thomas Kirkegaard (Orphazyme, Denmark)
Jonathan Cooper (Los Angeles Biomedical Research Institute, USA)
Marc Masa (LEITAT Technological Center, Spain)