Article
Motor and Sensory Deficits in the teetering Mice Result from Mutation of the ESCRT Component HGS.
PLoS genetics - 1 Jun 2015
Watson Jennifer A, Bhattacharyya Bula J, Vaden Jada H, Wilson Julie A, Icyuz Mert, Howard Alan D, Phillips Edward, DeSilva Tara M, Siegal Gene P, Bean Andrew J, King Gwendalyn D, Phillips Scott E, Miller Richard J, Wilson Scott M
Abstract excerpt
Neurons are particularly vulnerable to perturbations in endo-lysosomal transport, as several neurological disorders are caused by a primary deficit in this pathway. In this report, we used positional cloning to show that the spontaneously occurring neurological mutation teetering (tn) is a single nucleotide substitution in hepatocyte growth factor-regulated tyrosine kinase substrate (Hgs/Hrs), a component of the...
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