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P3‐129: MAPPING FUNCTIONAL REGULATORY VARIANTS AT ALZHEIMER'S DISEASE RISK LOCI
Author(s) -
Allen Mariet,
Bredenberg Jenny M.,
Reddy Joseph S.,
Sarangi Vivekananda,
Carrasquillo Minerva M.,
Wang Xue,
Lincoln Sarah J.,
Nguyen Thuy,
Malphrus Kimberly G.,
Dickson Dennis W.,
Asmann Yan W.,
Ertekin-Taner Nilufer
Publication year - 2018
Publication title -
alzheimer's and dementia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.713
H-Index - 118
eISSN - 1552-5279
pISSN - 1552-5260
DOI - 10.1016/j.jalz.2018.06.1486
Subject(s) - expression quantitative trait loci , biology , genetics , genome wide association study , genetic association , gene , gene expression profiling , computational biology , single nucleotide polymorphism , gene expression , genotype
Functional Expression Regulating N-terminal domain of Kv4.2. The p.F11 residue plays a crucial role in the binding to the potassium channel-Interacting protein (KChIP). Mutations in this residue are known to disrupt KChIP binding, trafficking, and functional modulation of the Kv4.2 channel (Kunjilwar et al., 2013). Conclusions:The genetic data suggest that Kv4.2, the molecular partner of DPP6, is intolerant to mutations. Together, our results as well as the specific protein function, warrant further investigation of this multimeric protein complex in the pathogenesis of neurodegenerative brain diseases.