Article
Genetic variations in tau-tubulin kinase-1 are linked to Alzheimer's disease in a Spanish case-control cohort.
Neurobiology of aging - 1 Mar 2011
Vázquez-Higuera José Luis, Martínez-García Ana, Sánchez-Juan Pascual, Rodríguez-Rodríguez Eloy, Mateo Ignacio, Pozueta Ana, Frank Ana, Valdivieso Fernando, Berciano José, Bullido María J, Combarros Onofre
Abstract excerpt
Neurofibrillary tangles, one of the characteristic neuropathological lesions found in Alzheimer's disease (AD) brains, are composed of abnormally hyperphosphorylated tau protein. Tau-tubulin kinase-1 (TTBK1) is a brain-specific protein kinase involved in tau phosphorylation at AD-related sites. We examined genetic variations of TTBK1 by genotyping nine haplotype tagging SNPs (htSNPs) (rs2104142, rs2651206,...
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