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How Mutations in the MECP2 Gene Cause Rett Syndrome | Rett Syndrome Research Trust

A paper was published on June 16, 2013, in Nature Neuroscience describing key steps in how mutations in the MECP2 gene cause Rett Syndrome. The paper describes two crucial domains in the protein: the well known methyl binding domain and the newly described NCoR/SMRT Interaction Domain (NID). Mutations in either of these domains cause Rett Syndrome. This work was done via the MECP2 Consortium in the labs of Adrian Bird at University of Edinburgh in collaboration with Michael Greenberg at Harvard Medical School. --------------------------------- The Rett Syndrome Research Trust is singularly focused on a cure for Rett syndrome. Achieving success takes a deep understanding of the relevant science, an environment built for scientific collaboration, and experience with drug and business development. Today we are building on incredible scientific and industry momentum by implementing six genetic-based strategies that tackle Rett from every angle. Every single company pursuing a cure for Rett is able to do so because they leveraged discoveries and resources that were generated with RSRT funding. RSRT is the home of the Rett cure community, and we are confident that together we will cure Rett syndrome.