ArticleNature genetics2009
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Article in Nature genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 197 papers, 1 of them a synthesis that pooled it.
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Who cites it
197 citing papers in PubMed, 1 synthesis or guideline pooled it, 371 citations in OpenAlex.
- Neuropathology of genetically defined malformations of cortical development-A systematic literature review.Neuropathology and applied neurobiology · 2021Pooled it
- Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.Cell reports · 2012Trial
- Article
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- Bridging the gap: an emerging link between tubulinopathies and ciliopathies.NPJ genomic medicine · 2026Review
- Diverse Genetic Etiologies of Unilateral Polymicrogyria.Annals of neurology · 2026Article
- Variant-to-gene mapping identifiesbioRxiv : the preprint server for biology · 2026Article
- Nonsense-mediated mRNA decay orchestrates neuronal migration and cortical lamination while modulating Reelin and ciliary gene regulatory networks.Cell reports · 2026Article
- The Role of Prenatal Neurosonography in Identification of Tubulinopathy-Narrative Review.Life (Basel, Switzerland) · 2026Review
- Architects of the Developing Brain: Cytoskeleton-Organizing Molecules in Neurodevelopmental Disorders.Cells · 2026Review
- Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study.Journal of human genetics · 2026Article
- Congenital Mirror Movements in A Family with TUBB2B Mutation.Movement disorders clinical practice · 2026Article
- Human milk oligosaccharides promote synaptogenesis and neurite outgrowth in human cortical organoids.Biochemistry and biophysics reports · 2026Article
- Multilayered regulation of cytoskeletal protein abundance: autoregulatory mechanisms of actin and tubulin.Experimental & molecular medicine · 2026Review
- Identification ofFrontiers in aging neuroscience · 2026Article
- Automated detection of polymicrogyria in pediatric patients using deep learning.Scientific reports · 2025Article
- Somatic Mosaicism Patterns Define Clinical-Surgical Subtypes of Focal Cortical Dysplasia Through Cell-Type-Specific Expression.medRxiv : the preprint server for health sciences · 2025Article
- Case Report: A case of complex cortical dysplasia with central precocious puberty onset.Frontiers in pediatrics · 2025Article
- Brain malformations and seizures by impaired chaperonin function of TRiC.Science (New York, N.Y.) · 2024Article
- AlphaFold2-guided engineering of split-GFP technology enables labeling of endogenous tubulins across species while preserving function.PLoS biology · 2024Article
137 more citing papers are in PubMed but not listed here.
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24 authors at 13 institutions in 5 countries.
Funding
Abstract
Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here we report de novo mutations in a beta-tubulin gene, TUBB2B, in four individuals and a 27-gestational-week fetus with bilateral asymmetrical polymicrogyria. Neuropathological examination of the fetus revealed an absence of cortical lamination associated with the presence of ectopic neuronal cells in the white matter and in the leptomeningeal spaces due to breaches in the pial basement membrane. In utero RNAi-based inactivation demonstrates that TUBB2B is required for neuronal migration. We also show that two disease-associated mutations lead to impaired formation of tubulin heterodimers. These observations, together with previous data, show that disruption of microtubule-based processes underlies a large spectrum of neuronal migration disorders that includes not only lissencephaly and pachygyria, but also polymicrogyria malformations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.