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événements, INC, séminaires, vidéos
Robert Burgess- Jackson Laboratory, ME, USA – 13 Mai 2016
Neuroscience Seminar Series:
Robert Burgess – Jackson Laboratory, ME, USA
‘Mouse models of Charcot-Marie-Toothperipheral Neuropathy:
towards disease mechanisms and therapeutic strategies’
Captation et conception vidéo: Service audiovisuel de Paris Descartes.
In 2006, the Burgess lab discovered mice with an autosomal dominant mutation in Gars (glycyltRNA synthetase), resulting in peripheral axon degeneration. These mice create a model of the human disease Charcot-Marie-Tooth type 2D, and we have used a combination of genetic and biochemical approaches to understand the underlying disease mechanism and to pilot therapeutic approaches. These studies will have implications for other forms of Charcot-Marie-Tooth disease, and possibly other heritable neuromuscular disorders and motor neuron diseases