Investigating links between MND and RNA biology
About the project
Despite increasing knowledge about the genetic defects responsible for motor neurone diseases including SMA and ALS, it is still not clear how cells are damaged or why motor neurones are particularly sensitive. Defects in the processing and/or transport of various types of RNA are, however, emerging as common themes. We are using a combination of cell and molecular biology approaches including live cell microscopy, ultra-structural analysis and interactomics to identify key cellular pathways that are altered in MND. Our most recent finding is an interaction between the Survival Motor Neuron protein and the essential neural protein, Neurochondrin. The most likely cellular location for this interaction is in cytoplasmic trafficking vesicles and we are currently investigating the function(s) of these vesicles. We are also investigating potential overlaps between the molecular pathologies of SMA, ALS and Myotonic Dystrophy involving RNA binding proteins.
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Publication(s)
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Principal Investigator
Other people involved
Bobby Beamont (PhD student)
Kim Vincent (PhD student)