Article
Synaptic defects in a Drosophila model of congenital muscular dystrophy.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 2 Apr 2008
Wairkar Yogesh P, Fradkin Lee G, Noordermeer Jasprina N, DiAntonio Aaron
Abstract excerpt
The congenital muscular dystrophies present in infancy with muscle weakness and are often associated with mental retardation. Many of these inherited disorders share a common etiology: defective O-glycosylation of alpha-dystroglycan, a component of the dystrophin complex. Protein-O-mannosyl transferase 1 (POMT1) is the first enzyme required for the glycosylation of alpha-dystroglycan, and mutations in the POMT1...
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