Premium
P3‐131: LOOKING FOR THERAPEUTIC ENTRY POINTS FOR ALZHEIMER'S DISEASE: LESSONS LEARNED FROM AGNOSTIC TRANS‐CO‐REGULATORY NETWORK ANALYSES OF APOE, TREM2, PLCG2 AND ABI3 LOCI
Author(s) -
Ruiz Agustín,
Madrid Laura,
Rojas Itziar,
González-Pérez Antonio,
Mañes Santos,
Ramirez Alfredo,
Hernández-Olasagarre Begoña,
Sáez María Eugenia
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.2018.06.1488
Subject(s) - trem2 , gene , biology , genetics , computational biology , apolipoprotein e , disease , medicine , cell , myeloid cells , pathology
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.