ReviewCurrent opinion in genetics & development2011
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
Review in Current opinion in genetics & development, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 125 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
125 citing papers in PubMed, 216 citations in OpenAlex.
- Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.Cell reports · 2012Trial
- Towards a systems-level view of the microtubule cytoskeleton and its functions in physiology and disease.Nature reviews. Molecular cell biology · 2026Review
- Gain-of-function suppressors restore microtubule dynamics and rescue dominant-negative tubulinopathies.Nature cell biology · 2026Article
- Identification of tubulin gene variants in patients with dandy-walker malformation: expanding the spectrum of tubulinopathies.Molecular cytogenetics · 2026Article
- Architects of the Developing Brain: Cytoskeleton-Organizing Molecules in Neurodevelopmental Disorders.Cells · 2026Review
- A molecular and spatial resource defining tubulin isotype organization during corneal development.bioRxiv : the preprint server for biology · 2026Article
- Systematic identification of microtubule lumen proteins reveals a taxane-sensitive luminal resident JPT2 regulating MEC17 accessibility.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Protective Effect of Idebenone Against UVB-Induced Photoaging in HaCaT Cells.Drug design, development and therapy · 2026Article
- Clinical and MRI differences in congenital fibrosis of extraocular muscles patients with KIF21A and TUBB3 variants.Japanese journal of ophthalmology · 2026Observational
- Expanding the Clinical and Molecular Spectrum ofmedRxiv : the preprint server for health sciences · 2025Article
- Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.Nature communications · 2025Article
- Article
- Engine breakdown of lysosomes and related organelles and the resulting physiology.Frontiers in cell and developmental biology · 2025Review
- Review
- AlphaFold2-guided engineering of split-GFP technology enables labeling of endogenous tubulins across species while preserving function.PLoS biology · 2024Article
- Article
- A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.Journal of human genetics · 2024Article
- Craniosynostosis Associated With Novel TUBG1 Mutation (NM_001070.4:c.821C>T) (p.Thr274Ile).Cureus · 2024Article
- Exome-wide analysis implicates rare protein-altering variants in human handedness.Nature communications · 2024Article
- Visualization and Quantification of Organelle Axonal Transport in Cultured Neurons.Methods in molecular biology (Clifton, N.J.) · 2024Article
65 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 1 country.
Funding
Abstract
A spectrum of neurological disorders characterized by abnormal neuronal migration, differentiation, and axon guidance and maintenance have recently been attributed to missense and splice-site mutations in the genes that encode α-tubulin and β-tubulin isotypes TUBA1A, TUBA8, TUBB2B, and TUBB3, all of which putatively coassemble into neuronal microtubules. The resulting nervous system malformations can include different types of cortical malformations, defects in commissural fiber tracts, and degeneration of motor and sensory axons. Many clinical phenotypes and brain malformations are shared among the various mutations regardless of structural location and/or isotype, while others segregate with distinct amino acids or functional domains within tubulin. Collectively, these disorders provide novel paradigms for understanding the biological functions of microtubules and their core components in normal health and disease.
Indexed as
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What OpenQuestion holds
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.