Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model.

ABSTRACT: Angelman syndrome is a neurodevelopmental disorder caused by loss of function of the maternally expressed UBE3A gene. Treatments for the main manifestations, including cognitive dysfunction or epilepsy, are still under development. Recently, the Cl^- importer Na⁺-K⁺-Cl^- cotransporter 1 (NKCC1) and the Cl^- exporter K⁺-Cl^- cotransporter 2 (KCC2) have garnered attention as therapeutic targets for many neurological disorders. Dysregulation of neuronal intracellular Cl^- concentration ([Cl^-]_i) is generally regarded as one of the mechanisms underlying neuronal dysfunction caused by imbalanced expression of these cation-chloride cotransporters (CCCs). Here, we analyzed the regulation of [Cl

SUBMITTER: Egawa K 

PROVIDER: S-EPMC10110603 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature