Bridging the gap: an emerging link between tubulinopathies and ciliopathies
Abstract
Genetic neurodevelopmental disorders arise from variants in genes critical for brain development, including those causing ciliopathies and tubulinopathies. Both disorders are linked to brain malformations, intellectual disability, and motor impairments. Since cilia rely on microtubules for ciliogenesis, axoneme formation, and intraflagellar transport, defects in tubulin genes can directly disrupt ciliary function. This review highlights emerging evidence connecting these two disease groups and reveals how tubulin variants impact ciliopathy mechanisms.
Fields of Study & Subjects
Genetic and Kidney Cyst Diseases
Microtubule and mitosis dynamics
Hedgehog Signaling Pathway Studies
Publication details
- Journal / source
- npj Genomic Medicine
- Publisher
- Springer Science and Business Media LLC
- Volume
- 11
- Issue
- 1
- Publication date
- 6 May 2026
- Language
- EN