Article
Functional significance of the kainate receptor GluR6(M836I) mutation that is linked to autism.
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2006
Strutz-Seebohm Nathalie, Korniychuk Ganna, Schwarz Regina, Baltaev Ravshan, Ureche Oana N, Mack Andreas F, Ma Zhan-Lu, Hollmann Michael, Lang Florian, Seebohm Guiscard
Abstract excerpt
Previous studies revealed a linkage of the kainate receptor GluR6 with autism, a pervasive developmental disorder. Mutational screening in autistic patients disclosed the amino acid exchange M836I in a highly conserved domain of the cytoplasmic C-terminal region of GluR6. Here, we show that this...
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