Functional Characterization of CLCN4 Variants Associated With X-Linked Intellectual Disability and Epilepsy.

ABSTRACT: Early/late endosomes, recycling endosomes, and lysosomes together form the endo-lysosomal recycling pathway. This system plays a crucial role in cell differentiation and survival, and dysregulation of the endo-lysosomal system appears to be important in the pathogenesis of neurodevelopmental and neurodegenerative diseases. Each endo-lysosomal compartment fulfils a specific function, which is supported by ion transporters and channels that modify ion concentrations and electrical gradients across endo-lysosomal membranes. CLC-type Cl^-/H⁺ exchangers are a group of endo-lysosomal transporters that are assumed to regulate luminal acidification and chloride concentration in multiple endosomal compartments. Heterodimers of ClC-3 and ClC-4 localize to various internal membra

SUBMITTER: Guzman RE 

PROVIDER: S-EPMC9198718 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature