As a proof of principle, we demonstrated that PGD - derived hES cells and derivatives which, express the causal mutation implicated in the Myotonic Dystrophy type 1 (DM1), may mimic molecular defects associated to the pathology. (istem.eu)
The first step of the programs is then identifying molecular defects which result from the presence of the mutation (outside achieving clean of the protein encoded by the mutated gene itself). (istem.eu)
«Until now, however, no one has been able to identify specific molecular defects involved in age - related memory loss in humans,» said co-senior author Scott A. Small, MD, the Boris and Rose Katz Professor of Neurology and director of the Alzheimer's Research Center at CUMC. (sciencedaily.com)