Article
Common exonic missense variants in the C2 domain of the human KIBRA protein modify lipid binding and cognitive performance.
Translational psychiatry - 18 Jun 2013
Duning K, Wennmann D O, Bokemeyer A, Reissner C, Wersching H, Thomas C, Buschert J, Guske K, Franzke V, Flöel A, Lohmann H, Knecht S, Brand S-M, Pöter M, Rescher U, Missler M, Seelheim P, Pröpper C, Boeckers T M, Makuch L, Huganir R, Weide T, Brand E, Pavenstädt H, Kremerskothen J
Abstract excerpt
The human KIBRA gene has been linked to human cognition through a lead intronic single-nucleotide polymorphism (SNP; rs17070145) that is associated with episodic memory performance and the risk to develop Alzheimer's disease. However, it remains unknown how this relates to the function of the KIBRA protein. Here, we identified two common missense SNPs (rs3822660G/T [M734I], rs3822659T/G [S735A]) in exon 15 of the...
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