Upregulation of PKD1L2 provokes a complex neuromuscular disease in the mouse
Mackenzie, Francesca E; Romero, Rosario; Williams, Debbie; Gillingwater, Thomas; Hilton, Helen; Dick, Jim; Riddoch-Contreras, Joanna; Wong, Frances; Ireson, Lisa; Powles-Glover, Nicola; Riley, Genna; Underhill, Peter; Hough, Tertius; Arkell, Ruth; Greensmith, Linda; Ribchester, Richard R; Blanco, Gonzalo
Following a screen for neuromuscular mouse mutants, we identified ostes, a novel N-ethyl N-nitrosoureainduced mouse mutant with muscle atrophy. Genetic and biochemical evidence shows that upregulation of the novel, uncharacterized transient receptor potential polycystic (TRPP) channel PKD1L2 (polycystic kidney disease gene 1-like 2) underlies this disease. Ostes mice suffer from chronic neuromuscular impairments including neuromuscular junction degeneration, polyneuronal innervation and...[Show more]
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|Source:||Human Molecular Genetics|
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