ArticleFrontiers in cell and developmental biology2021
Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations.
Article in Frontiers in cell and developmental biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- Identification of tubulin gene variants in patients with dandy-walker malformation: expanding the spectrum of tubulinopathies.Molecular cytogenetics · 2026Article
- Bridging the gap: an emerging link between tubulinopathies and ciliopathies.NPJ genomic medicine · 2026Review
- TUBB2A related epilepsy: novel variants and genotype-phenotype correlation.Scientific reports · 2026Article
- Role of α-tubulin helix 11' in heterodimer conformation and microtubule dynamics.bioRxiv : the preprint server for biology · 2026Article
- Emerging Roles of Tubulin Isoforms and Their Post-Translational Modifications in Microtubule-Based Transport and Cellular Functions.Biomolecules · 2026Review
- Single-molecule microtubule dynamics measurements reveal an intermediate state and clarify the role of nucleotide.Nature communications · 2025Article
- Mechanisms of microtubule dynamics from single-molecule measurements.bioRxiv : the preprint server for biology · 2025Article
- β3 accelerates microtubule plus end maturation through a divergent lateral interface.Molecular biology of the cell · 2025Article
- A mutational hotspot inFrontiers in cellular neuroscience · 2025Article
- Implications of Lead (Pb)-Induced Transcriptomic and Phenotypic Alterations in the Aged Zebrafish (Toxics · 2024Article
- β3 accelerates microtubule plus end maturation through a divergent lateral interface.bioRxiv : the preprint server for biology · 2024Article
- Culturing Primary Cortical Neurons for Live-Imaging.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Article
- Taxol acts differently on different tubulin isotypes.Communications biology · 2023Article
- Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.Molecular neurobiology · 2023Review
- Tubulin isotype regulation maintains asymmetric requirement for α-tubulin over β-tubulin.The Journal of cell biology · 2023Article
- TUBB3 and KIF21A in neurodevelopment and disease.Frontiers in neuroscience · 2023Review
- Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.PLoS computational biology · 2022Article
- Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022Review
- The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation.Frontiers in cellular neuroscience · 2022Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in the family of genes encoding the tubulin subunits of microtubules are associated with a spectrum of human brain malformations known as tubulinopathies. How these mutations impact tubulin activity to give rise to distinct developmental consequences is poorly understood. Here we report two patients exhibiting brain malformations characteristic of tubulinopathies and heterozygous T178M missense mutations in different β-tubulin genes,
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Registered trials
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.