Article
Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.
PloS one - 1 Jan 2017
Shields Mallory C, Bowers Matthew R, Fulcer McKenzie M, Bollig Madelyn K, Rock Patrick J, Sutton Bryan R, Vrailas-Mortimer Alysia D, Lochmüller Hanns, Whittaker Roger G, Horvath Rita, Reist Noreen E
Abstract excerpt
During chemical transmission, the function of synaptic proteins must be coordinated to efficiently release neurotransmitter. Synaptotagmin 2, the Ca2+ sensor for fast, synchronized neurotransmitter release at the human neuromuscular junction, has recently been implicated in a dominantly inherited congenital myasthenic syndrome associated with a non-progressive motor neuropathy. In one family, a proline residue...
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