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LMCB - MRC Laboratory for Molecular Cell Biology

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Paul Gissen's picture
LMCB Group Leader, UCL Professorial Research Associate
 
+44 (0)20 7679 3531
LMCB Room 3.11
 
Proteins involved in Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome

Research Synopsis

The Gissen Lab was set up in 2011 to use cell and molecular biology approaches to investigate rare genetic disorders with a focus on abnormalities of intracellular trafficking.

Our long-standing interest is in understanding the mechanism of function of a multi-protein tethering complex containing VPS33B and VIPAR. Defects in these two proteins cause a multi-system human disorder Arthrogryposis, Renal Dysfunction and Cholestasis Syndrome (ARC). For this work and other studies we employ cell and animal models of human disease including patient-derived induced pluripotent stem cells that can undergo differentiation into a variety of highly specialised cell types. 

 

Selected Publications

Hanley J, et al (2017). Vps33b is Crucial for Structural and Functional Hepatocyte Polarity. Journal of Hepatology. doi:10.1016/j.jhep.2017.01.001
Reid ES, et al (2016). Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. Brain : a journal of neurology. doi:10.1093/brain/aww221
Banushi B, et al (2016). Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis. Nature Communications, 7. doi:10.1038/ncomms12111
Bem D, et al (2015). VPS33B regulates protein sorting into and maturation of alpha-granule progenitor organelles in mouse megakaryocytes. BLOOD, 126 (2), 133-143. doi:10.1182/blood-2014-12-614677
Gissen P, et al (2006). Clinical and molecular genetic features of ARC syndrome. Hum Genet, 120 (3), 396-409. doi:10.1007/s00439-006-0232-z

Funders

Medical Research Council
European Research Council 
Batten Disease Family Association
GOSH Charity 

Research Themes

Polarity and cell shape, Membrane trafficking, Development of novel therapies for human disease

Technology

Light microscopy, Translational research, Bioinformatics, Electron microscopy

People

Maelle Lorvellec (Postdoctoral scientist, European Research Council)
Daniel Little (Postdoctoral Scientist, GOSH Children’s Charity and BDFA)
Leila Nayyar (Postdoctoral Scientist, European Research Council)
Julien Baruteau (Clinical Research Fellow, MRC, UCL GOS ICH)
Barbara Csanyi (Clinical Research Fellow, Clinical Trials , UCL GOS ICH)
Svetlana Tuslova Csanyi (Clinical Research Fellow, Clinical Trials , UCL GOS ICH)
Dany Perocheau (Research Assistant, MRC, UCL IfWH)
Danny Kysh (Research Assistant, European Research Council)
 

Collaborators

Federico Forneris (University of Pavia, Italy)
Irwin Arias (National Institutes of Health, USA)
Steve Watson (University of Birmingham, UK)
Adrian Thrasher (UCL GOS Institute of Child Health, UK)
Simon Waddington (UCL Institute for Women’s Health, UK)
Paolo De Coppi (UCL GOS Institute of Child Health,UK)
Manju Kurian (UCL GOS Institute of Child Health, UK)
Michael Devine (UCL Institute of Neurology, UK)
Kevin Mills (UCL GOS Institute of Child Health, UK)
Philippa Mills (UCL GOS Institute of Child Health, UK)
Peter Clayton (UCL GOS Institute of Child Health, UK)