SLK is mutated in individuals with a neurodevelopmental disorder.

ABSTRACT:

Background

Key to neuronal cell polarization and maturation is proper cytoskeletal organization and function that endows the bipolar neuronal cell with mature dendrites, axons, and functional synapses. Ste20-like kinase (SLK) has been shown to have various cytoskeletal roles. SLK regulates the polarity of microtubules, and its deficiency in the developing murine cortex leads to major defects including impaired development of the distal dendritic tree. No neurodevelopmental phenotypes in humans, however, have been linked to SLK.

Methods

Clinical phenotyping, positional mapping, exome sequencing and functional analyses using patient-derived cells, SLK knock down cell lines, as well as a Drosophila model of Slik deficiency (the orthologue of SLK).

Findings

We identified

SUBMITTER: Alabdi L 

PROVIDER: S-EPMC12139437 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature