Article
An intronic PICALM polymorphism, rs588076, is associated with allelic expression of a PICALM isoform.
Molecular neurodegeneration - 29 Aug 2014
Parikh Ishita, Medway Christopher, Younkin Steven, Fardo David W, Estus Steven
Abstract excerpt
BACKGROUND: Although genome wide studies have associated single nucleotide polymorphisms (SNP)s near PICALM with Alzheimer's disease (AD), the mechanism underlying this association is unclear. PICALM is involved in clathrin-mediated endocytosis and modulates Aß clearance in vitro. Comparing allelic expression provides the means to detect cis-acting regulatory polymorphisms. Thus, we evaluated whether PICALM...
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