Open access
Oct 2026
KATNAL2 dysfunction impairs microtubule dynamics and contributes to syndromic neurodevelopmental disease
Abstract Katanins are microtubule-severing ATPases. Dysfunction of katanin subunits has been implicated in impaired neurogenesis, morphogenesis, and neuronal migration. Although heterozygous variants in KATNAL2 (katanin-like 2), a known autism-spectrum disorder (ASD) risk gene, have been reported in patients with ASD o...
Ece Sonmezler, Semra Hız Kurul, Ozlem Erez et al.
· Human Molecular Genetics · 0 citations