Affinage

TUBA1A

Tubulin alpha-1A chain · UniProt Q71U36

Length
451 aa
Mass
50.1 kDa
Annotated
2026-06-10
54 papers in source corpus 21 papers cited in narrative 21 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

TUBA1A encodes the principal neuronal α-tubulin that, after a chaperone-dependent folding pathway involving prefoldin, the cytosolic chaperonin CCT, and the tubulin-specific chaperone TBCB, heterodimerizes with β-tubulin to build the microtubule lattice required for brain development (PMID:20603323). This activity is non-redundant: other α-tubulin isotypes such as Tuba8 cannot substitute for TUBA1A in neuronal migration, and reduced TUBA1A protein or destabilized transcript yields fewer axonal microtubules, slowed neurite outgrowth, increased progenitor apoptosis, and ataxia (PMID:28687665, PMID:32184299, PMID:36681692). Beyond serving as a structural subunit, the TUBA1A surface presents binding sites for microtubule-associated proteins—including dynein subunits (DYNC1I1/2), VAPB, REEP1, EZRIN, PRNP, and the growth-cone protein MAP1B—and for plus-end regulators of the XMAP215/TOG family that govern polymerization rate (PMID:33137126, PMID:35511030, PMID:35127710). Disease-causing missense mutations act through multiple convergent mechanisms: some impair the chaperone folding pathway or destabilize the protein toward proteasomal degradation and aggregation (PMID:20603323, PMID:37435044), while others fold and incorporate normally but dominantly "poison" the lattice by populating it with subunits bearing defective MAP- and motor-binding surfaces (PMID:30517687, PMID:33137126, PMID:31574570). The functional consequence is selective failure of dynein-dependent transport and nucleus–centrosome coupling—while kinesin activity is spared—disrupting neuronal migration and axon extension (PMID:30517687, PMID:33137126). A distinct mutation class (V409) accelerates intrinsic polymerization by ablating TOG-domain binding, with phenotypic severity scaling to the degree of cortical malformation (PMID:35511030). TUBA1A mutations cause lissencephaly with cerebellar hypoplasia and a broader spectrum of cortical dysgenesis and congenital fibrosis of the extraocular muscles (PMID:20466733, PMID:26493046, PMID:33649541).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 2010 High

    Established that TUBA1A disease mutations corrupt the chaperone-dependent tubulin biogenesis pathway rather than acting only on assembled microtubules, defining a folding-pathway axis of pathogenesis.

    Evidence In vitro expression of nine mutants with prefoldin/CCT/TBCB interaction, co-polymerization, stability, and neuronal microtubule growth assays

    PMID:20603323

    Open questions at the time
    • Did not resolve which defects dominate in vivo per mutation
    • No structural model of the impaired chaperone intermediates
  2. 2010 Medium

    Linked TUBA1A mutations causally to lissencephaly with cerebellar hypoplasia and proposed disruption of MAP-binding sites as one operative mechanism.

    Evidence Patient cohort mutation screening with cellular assays and structural modeling of mutation positions

    PMID:20466733

    Open questions at the time
    • Specific MAPs not identified
    • Mechanistic depth limited to modeling
  3. 2011 Medium

    Defined the in vivo developmental consequence of a Tuba1a mutation as a radial migration defect with neuronal loss and circuit-level behavioral deficits.

    Evidence Birthdate labeling, neuronal counts, apoptosis assays, and acoustic startle testing in S140G (Jenna) mutant mice

    PMID:21875651

    Open questions at the time
    • Molecular mechanism connecting S140G to apoptosis unresolved
    • Single mutation, single lab
  4. 2017 High

    Demonstrated that TUBA1A is required for nucleus-centrosome coupling during migration and that other α-tubulin isotypes cannot compensate, establishing isotype non-redundancy.

    Evidence Live imaging of migrating neurons, microtubule straightness quantification, structural modeling, and Tuba8 comparison in S140G mice

    PMID:28687665

    Open questions at the time
    • How conformational change translates to N-C decoupling not biochemically resolved
    • Single missense allele
  5. 2019 High

    Resolved the dominant 'poisoning' mechanism: R402 mutant α-tubulin incorporates into microtubules that support kinesin but selectively fail dynein, with dose-dependent severity.

    Evidence In utero electroporation migration assay plus yeast tubulin reconstitution with purified kinesin/dynein motor assays

    PMID:30517687

    Open questions at the time
    • Structural basis of selective dynein-site disruption not defined
    • Yeast tubulin may differ from neuronal heterodimers
  6. 2019 Medium

    Provided genetic evidence across a mutant panel that tubulinopathy mutations act by dominant incorporation rather than haploinsufficiency.

    Evidence Yeast α-tubulin mutant panel with growth and microtubule incorporation assays

    PMID:31574570

    Open questions at the time
    • Does not address mutations that fail to fold/incorporate
    • Yeast viability readout is coarse
  7. 2020 High

    Identified the specific MAP repertoire perturbed by R402H and confirmed it acts as a gain-of-function that impairs dynein transport and nucleus-MTOC coupling.

    Evidence Conditional R402H knock-in mouse with microtubule sedimentation, quantitative mass spectrometry, transport and coupling imaging

    PMID:33137126

    Open questions at the time
    • Direct binding vs. indirect level changes for each MAP not fully distinguished
    • Generalizability to other mutations unknown
  8. 2020 Medium

    Showed that TUBA1A abundance sets axonal microtubule number, organelle trafficking continuity, and long-term synapse maintenance.

    Evidence Tuba1a loss-of-function mouse with organelle trafficking imaging, ataxia testing, and NMJ morphometry

    PMID:32184299

    Open questions at the time
    • Trafficking cargo specificity not defined
    • Mechanism linking developmental tracks to adult maintenance indirect
  9. 2022 High

    Defined a polymerization-rate axis of pathogenesis: V409 mutations accelerate growth by ablating TOG/XMAP215 binding, with severity scaling to malformation grade.

    Evidence Yeast model, purified-tubulin reconstitution, TOG binding assays, in utero electroporation, and neuronal imaging

    PMID:35511030

    Open questions at the time
    • How faster polymerization causes branching/migration defects mechanistically incomplete
    • Other plus-end factors not surveyed
  10. 2022 Medium

    Linked TUBA1A loss to growth-cone MAP1B mislocalization and impaired commissure formation, connecting protein level to microtubule stabilization in axons.

    Evidence Epitope-tagged TUBA1A assembly assays and Tuba1a^nd heterozygous mouse brain and growth cone analysis

    PMID:35127710

    Open questions at the time
    • Whether MAP1B mislocalization is cause or consequence unresolved
    • Heterozygous phenotype mild
  11. 2023 Medium

    Demonstrated transcript-level control of TUBA1A function: synonymous codon changes destabilize mRNA and produce lethal neurodevelopmental phenotypes without isotype compensation.

    Evidence Codon-modified Tuba1a mouse with qRT-PCR, immunohistochemistry, and neuronal counting

    PMID:36681692

    Open questions at the time
    • Mechanism of codon-dependent transcript stability not defined
    • Translational efficiency contribution not separated
  12. 2023 Medium

    Identified I384 as a residue critical for α-tubulin stability, with mutation driving proteasome-dependent degradation and aggregation—a destabilization mechanism distinct from incorporation-competent poisoning.

    Evidence Cell-line expression, sedimentation/incorporation, proteasome inhibition, solubility fractionation, and cross-paralog comparison

    PMID:37435044

    Open questions at the time
    • In vivo relevance not tested
    • Single overexpression system
  13. 2024 Medium

    Revealed that an lncRNA (TubAR) scaffolds TUBA1A-TUBB4A heterodimer formation and microtubule assembly, adding an RNA-dependent layer to dimer biogenesis.

    Evidence RNA-protein pulldown, Co-IP, in vitro assembly, and TubAR knockdown/rescue in mouse cerebellum

    PMID:38769343

    Open questions at the time
    • Generalizability beyond TUBB4A pairing unknown
    • Single lab, mechanism of RNA bridging not structurally resolved
  14. 2023 Low

    Proposed a non-cytoskeletal cytoplasmic role for TUBA1A in restraining PLK3 to license APC/C-driven mitotic exit in glioblastoma.

    Evidence Co-IP, TUBA1A knockdown, PLK3/APC/C activity assays, and xenograft tumor model

    PMID:37873730

    Open questions at the time
    • Single Co-IP without reciprocal validation of the PLK3-inhibition mechanism
    • Cancer context may not reflect neuronal function
    • Direct vs. microtubule-mediated effect not separated
  15. 2024 Low

    Placed Tuba1a downstream of the SALL2 transcription factor during neural differentiation.

    Evidence SALL2 ChIP-seq at the Tuba1a locus and Tuba1a overexpression rescue in Sall2-knockout ESCs

    PMID:39349437

    Open questions at the time
    • Limited mechanistic detail on TUBA1A protein function
    • Single study
  16. 2025 Medium

    Toward a complete variant-effect map, comprehensive mutagenesis assigned microtubule-assembly phenotypes to every TUBA1A missense variant and mapped GTP-binding, folding, and protofilament-interface determinants.

    Evidence Saturation mutagenesis with high-content imaging, CNN phenotyping, and structural mapping (preprint)

    PMID:bio_10.1101_2025.09.29.679168

    Open questions at the time
    • Preprint, not peer-reviewed
    • Assembly readout does not capture MAP/motor-binding defects directly

Open questions

Synthesis pass · forward-looking unresolved questions
  • It remains unresolved how the diverse molecular defects (folding failure, degradation, dominant lattice poisoning, altered polymerization, and selective MAP/motor-site disruption) quantitatively map onto the spectrum of clinical severity, and whether the proposed non-cytoskeletal TUBA1A roles are general.
  • No unified genotype-to-mechanism-to-phenotype model
  • Non-microtubule functions rest on single low-confidence studies
  • Structural basis of selective dynein-site disruption undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0008092 cytoskeletal protein binding 2 GO:0003924 GTPase activity 1
Localization
GO:0005856 cytoskeleton 3 GO:0005829 cytosol 2
Pathway
R-HSA-1266738 Developmental Biology 4 R-HSA-1643685 Disease 3 R-HSA-9609507 Protein localization 2
Partners
DYNC1I1DYNC1I2MAP1BPLK3REEP1TBCBTUBB4AVAPB
Complex memberships
microtubuleα/β-tubulin heterodimer

Evidence

Reading pass · 21 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2010 Nine disease-causing TUBA1A mutations (I188L, I238V, P263T, L286F, V303G, L397P, R402C, R402H, S419L) were examined in vitro and found to cause diverse defects in the chaperone-dependent tubulin folding and heterodimer assembly pathway, including defective interaction with prefoldin, reduced efficiency with cytosolic chaperonin CCT, and failure to stably interact with tubulin-specific chaperone TBCB. Some mutants also showed structural instability, diminished in vivo stability, compromised co-assembly with microtubules in vivo, and suppression of microtubule growth rate in neurites (but not soma) of cultured neurons. In vitro expression of mutant proteins, co-polymerization assays, chaperone interaction assays (prefoldin, CCT, TBCB), in vivo stability assays, live imaging of microtubule growth in cultured neurons Human molecular genetics High 20603323
2019 TUBA1A R402C and R402H patient mutations dominantly disrupt cortical neuronal migration in vivo when ectopically expressed in the developing mouse brain. In budding yeast, analogous R402C/H mutations in α-tubulin assemble into microtubules that support normal kinesin activity but fail to support dynein motor activity. The severity of dynein impairment scales with the level of mutant expression, suggesting a 'poisoning' mechanism whereby R402 mutant α-tubulin dominantly populates microtubules with defective dynein-binding sites. In utero electroporation (mouse cortical neuronal migration assay), yeast genetic system with purified tubulin, in vitro kinesin and dynein motor activity assays, dose-response analysis of mutant expression level Human molecular genetics High 30517687
2017 A Tuba1a S140G missense mutation in mice causes slowed neuronal migration, increased neuronal branching, directionality alterations, and perturbed nucleus-centrosome (N-C) coupling. Newly polymerized microtubules in mutant neurons are straighter than wild type. Structural modeling suggests a conformational change in the α/β-tubulin heterodimer. Tuba8, another α-tubulin isotype, cannot compensate for Tuba1a loss of function in neuronal migration. Live imaging of migrating neurons in the rostral migratory stream, in vivo mouse analysis (postnatal and adult brains), MT straightness quantification, structural modeling, comparison with Tuba8 isotype The Journal of cell biology High 28687665
2020 The TUBA1A R402H mutation perturbs binding and/or levels of multiple microtubule-associated proteins (MAPs) including VAPB, REEP1, EZRIN, PRNP, and DYNC1I1/2, as determined by microtubule sedimentation assays coupled with quantitative mass spectrometry. The R402H mutant folds and incorporates into microtubules but acts as a gain-of-function by perturbing MAP binding. The mutation impairs dynein-mediated transport and causes decoupling of the nucleus from the microtubule organising center. Conditional knock-in mouse (R402H), microtubule sedimentation assay, quantitative mass spectrometry (proteomics), dynein transport assays, nuclear-centrosome coupling imaging PLoS genetics High 33137126
2022 TUBA1A V409I and V409A mutations promote intrinsically faster microtubule polymerization rates in cells and in reconstitution experiments with purified tubulin. These mutations decrease recruitment of XMAP215/Stu2 to microtubule plus ends and ablate tubulin binding to TOG domains. In neurons, the mutants cause increased microtubule acetylation, excessive neurite branching, decreased neurite retraction, and disrupted neuronal migration. The severity of phenotypes (from molecular to cellular to tissue level) scales with the severity of brain malformation (V409I→pachygyria; V409A→lissencephaly). Budding yeast model, purified tubulin reconstitution, in vitro polymerization assays, TOG domain binding assays, in utero electroporation (mouse), primary rat neuronal culture imaging eLife High 35511030
2010 TUBA1A mutations cause lissencephaly with cerebellar hypoplasia (LCH), accounting for ~30% of LCH cases. Cellular and structural analysis indicates that LCH-associated mutations operate via diverse mechanisms including disruption of binding sites for microtubule-associated proteins (MAPs). Patient cohort mutation screening, cellular assays, structural (protein modeling) analysis of mutation positions Human molecular genetics Medium 20466733
2015 Two novel TUBA1A mutations responsible for severe cortical dysgeneses incorporate extensively into the endogenous microtubule network in COS7 cells and cause earlier cold-induced microtubule depolymerization in patient fibroblasts compared to controls, demonstrating that these mutations destabilize microtubules. Both mutations are predicted to disrupt lateral interactions between microtubule protofilaments. Transfection in COS7 cells with immunofluorescence line density measurement, cold-induced depolymerization assay in patient fibroblasts, structural prediction Scientific reports Medium 26493046
2010 The Tuba1a S140G mouse mutant shows defective migration of PROX1-positive neurons and TBX2-positive progenitors during dentate gyrus development, resulting in a disorganized subgranular zone and dispersed granule cell layer in adults, despite normal neurogenic potential. Birth-date labeling (BrdU), immunohistological markers (PROX1, TBX2), morphological analysis of dentate gyrus Developmental neuroscience Medium 21041996
2011 The Tuba1a S140G mutation impairs radial migration of neurons in the superior colliculus, causes a massive reduction in postmitotic neuron number attributed to increased apoptotic cell death, and is associated with an exaggerated acoustic startle response consistent with disrupted sensorimotor gating circuitry. Birthdate labeling (E12.5, E13.5), quantitative neuronal counting, apoptosis assays, acoustic startle response behavioral testing in Jenna mutant mice Neuroscience Medium 21875651
2020 Reduced TUBA1A levels (Tuba1a loss-of-function mouse) result in assembly of fewer microtubules in axons of P0 cultured neurons, leading to more pausing during organelle trafficking. Adult Tuba1a mice develop ataxia with reduced neuromuscular junction synapse size in older animals, indicating that TUBA1A-rich microtubule tracks assembled during development are essential for mature neuron function and synapse maintenance. Tuba1a loss-of-function mouse model, organelle trafficking live imaging in P0 neurons, behavioral testing (ataxia), NMJ morphology quantification eNeuro Medium 32184299
2022 A TUBA1A loss-of-function mutation (Tuba1a^nd) reduces TUBA1A protein levels and prevents incorporation of TUBA1A into microtubule polymers. Heterozygous Tuba1a^nd mice show impaired formation of forebrain commissures with slower neurite outgrowth but grossly normal cortex. Neurons deficient in Tuba1a fail to localize microtubule-associated protein MAP1B to the developing growth cone, suggesting impaired microtubule stabilization. Novel epitope-tagging method for TUBA1A, microtubule assembly assays, Tuba1a^nd heterozygous mouse brain analysis, neurite outgrowth imaging, growth cone MAP1B localization by immunofluorescence Frontiers in cell and developmental biology Medium 35127710
2019 In a panel of TUBA1A tubulinopathy mutations introduced into yeast α-tubulin, mutant α-tubulins can incorporate into the microtubule network and support viability, consistent with a dominant 'poisoning' mechanism (incorporation of mutant subunits that disrupt microtubule function) rather than simple haploinsufficiency. Yeast α-tubulin mutant panel, growth assay, microtubule incorporation assay Cytoskeleton (Hoboken, N.J.) Medium 31574570
2023 The TUBA1A p.I384N missense mutation impairs TUBA1A protein stability, prevents incorporation into microtubules, promotes tubulin aggregation, and leads to proteasome-dependent degradation. Inhibition of the proteasome increases mutant TUBA1A levels but promotes aggregation and insoluble inclusion formation. Introduction of the equivalent mutation into three different tubulin paralogs similarly reduces protein level and assembly, identifying I384 as a residue critical for α-tubulin stability. Transfection-based expression in cell lines, microtubule sedimentation/incorporation assays, proteasome inhibition experiments, solubility fractionation, comparison with R402H mutation Frontiers in cellular neuroscience Medium 37435044
2024 The lncRNA TubAR forms an RNA-protein complex with TUBB4A and TUBA1A, promoting TUBB4A-TUBA1A heterodimer formation and microtubule assembly. The non-hypomyelination-causing TUBB4A-R2G mutation confers RNA-independent interaction with TUBA1A, and R2G/A mutations restore TUBB4A-TUBA1A heterodimer formation and rescue neuronal cell death caused by TubAR knockdown. RNA-protein complex pulldown, co-immunoprecipitation, in vitro microtubule assembly assay, TubAR knockdown in mouse cerebellum, rescue experiments with TUBB4A mutations Cell discovery Medium 38769343
2023 TUBA1A interacts with polo-like kinase 3 (PLK3) in the cytoplasm to inhibit PLK3 activation; this interaction licenses activation of the anaphase-promoting complex/cyclosome (APC/C) to ensure Foxm1-mediated metaphase-to-anaphase transition and mitotic exit in glioblastoma cells. TUBA1A knockdown results in mitotic arrest and reduces tumor growth in mice. Co-immunoprecipitation (TUBA1A-PLK3 interaction), TUBA1A knockdown in GBM cells, PLK3 activity assays, APC/C activation assays, xenograft mouse tumor model FEBS letters Low 37873730
2024 SALL2 transcription factor binds the Tuba1a locus (identified by ChIP-seq) and regulates Tuba1a expression during neural differentiation. Overexpression of Tuba1a rescues neural differentiation defects in Sall2 knockout mouse embryonic stem cells. ChIP-seq (SALL2 binding at Tuba1a locus), Sall2 knockout ESCs, neural differentiation assay, Tuba1a overexpression rescue Cell death & disease Low 39349437
2020 TUBA1A is the target of miR-15a-5p and miR-15b-5p (confirmed by RIP, pulldown, and luciferase reporter assay). TUBA1A silencing rescues the effect of FENDRR lncRNA overexpression on cervical cancer cell growth and migration, placing TUBA1A downstream of the FENDRR/miR-15a/b-5p axis. RNA immunoprecipitation (RIP), RNA pulldown, luciferase reporter assay, loss-of-function (siRNA), gain-of-function experiments in cervical cancer cells Cancer cell international Low 32398968
2025 High-throughput comprehensive mutagenesis of all possible TUBA1A missense mutations combined with high-content imaging and convolutional neural network phenotyping quantified microtubule assembly phenotypes for every coding variant. Structural mapping revealed distinct domains critical for GTP binding, chaperone-assisted folding, and protofilament interaction as mechanistic determinants of tubulin-related disease. Saturation mutagenesis, high-content imaging, convolutional neural network phenotyping, machine learning, structural mapping bioRxivpreprint Medium bio_10.1101_2025.09.29.679168
2025 Functional studies of novel TUBA1A variants in HEK293 cells revealed that some variants cause reduced microtubule depolymerization (a mechanism not previously observed for TUBA1A), in addition to other known effects on microtubule incorporation and reincorporation. Heterologous expression of wild-type and variant TUBA1A in HEK293 cells, microtubule incorporation, reincorporation, and depolymerization assays bioRxivpreprint Low bio_10.1101_2025.03.28.25324751
2023 Modification of the Tuba1a mRNA coding sequence (synonymous codon changes) decreases transcript stability and causes homozygous lethality and severe neurodevelopmental phenotype in mice, including decreased post-mitotic neurons, PAX6-positive progenitors, and increased apoptosis, without compensation by other neurogenic tubulins. Codon-modified Tuba1a mouse model, qRT-PCR for transcript stability, immunohistochemistry (PAX6, apoptosis markers), neuronal counting Scientific reports Medium 36681692
2021 Novel TUBA1A missense variants at the longitudinal heterodimer interface (Met398, His406) and the lateral protofilament interface (Arg156) cause congenital fibrosis of the extraocular muscles (CFEOM) with or without malformations of cortical development. His406 is predicted to interact with the motor domain of kinesin-1, suggesting that disruption of kinesin-1 binding contributes to CFEOM pathology. Exome/genome sequencing, structural modeling of mutation positions at α/β-tubulin and protofilament interfaces, MRI European journal of human genetics : EJHG Low 33649541

Source papers

Stage 0 corpus · 54 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Human mutation 188 17584854
2010 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Human molecular genetics 153 20466733
2013 Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain : a journal of neurology 113 23361065
1995 The mating-type locus B alpha 1 of Schizophyllum commune contains a pheromone receptor gene and putative pheromone genes. The EMBO journal 101 7489716
2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. Journal of medical genetics 87 18728072
2008 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. Brain : a journal of neurology 83 18669490
2008 Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clinical genetics 72 18954413
2019 The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy. Orphanet journal of rare diseases 69 30744660
2011 TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. Neurology 58 21403111
2017 The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend. Journal of developmental biology 54 29057214
2012 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. European journal of human genetics : EJHG 54 22948023
2010 Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway. Human molecular genetics 53 20603323
2017 Mutation of the α-tubulin Tuba1a leads to straighter microtubules and perturbs neuronal migration. The Journal of cell biology 52 28687665
2010 Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. Acta neuropathologica 40 20376468
2019 TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity. Human molecular genetics 37 30517687
2012 TUBA1A mutation-associated lissencephaly: case report and review of the literature. Pediatric neurology 37 22264709
2020 FENDRR suppresses cervical cancer proliferation and invasion by targeting miR-15a/b-5p and regulating TUBA1A expression. Cancer cell international 31 32398968
2012 Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. Brain & development 31 22633752
2020 Reduced TUBA1A Tubulin Causes Defects in Trafficking and Impaired Adult Motor Behavior. eNeuro 29 32184299
2015 TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation. Pediatric neurology 27 26294046
2021 Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. European journal of human genetics : EJHG 24 33649541
2019 Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies. Cytoskeleton (Hoboken, N.J.) 24 31574570
2015 TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis. Scientific reports 22 26493046
2013 Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 22 23317684
2013 A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. Brain & development 22 23528852
2012 Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary. Journal of child neurology 21 22408144
2022 Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies. European journal of human genetics : EJHG 18 35017693
2010 The role of Tuba1a in adult hippocampal neurogenesis and the formation of the dentate gyrus. Developmental neuroscience 18 21041996
2022 TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics. eLife 16 35511030
2018 Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation. Brain sciences 16 30087272
2014 Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report. BMC research notes 16 25053001
1996 Allelic divergence at B alpha 1 pheromone receptor genes of Schizophyllum commune. FEMS microbiology letters 15 8978100
2022 Bridging the Gap: The Importance of TUBA1A α-Tubulin in Forming Midline Commissures. Frontiers in cell and developmental biology 14 35127710
2020 Elevated TUBA1A Might Indicate the Clinical Outcomes of Patients with Gastric Cancer, Being Associated with the Infiltration of Macrophages in the Tumor Immune Microenvironment. Journal of gastrointestinal and liver diseases : JGLD 14 33331338
2023 Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia. Frontiers in cellular neuroscience 10 37435044
2020 A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse. PLoS genetics 9 33137126
1980 C3, factor B, alpha-1-antitrypsin in neonatal septicaemia with sclerema. Archives of disease in childhood 9 6969058
2023 Codon modification of Tuba1a alters mRNA levels and causes a severe neurodevelopmental phenotype in mice. Scientific reports 8 36681692
2020 Loss-of-Function Plays a Major Role in Early Neurogenesis of Tubulin α-1 A (TUBA1A) Mutation-Related Brain Malformations. Molecular neurobiology 8 33165829
2024 LncRNA TubAR complexes with TUBB4A and TUBA1A to promote microtubule assembly and maintain myelination. Cell discovery 7 38769343
2023 TUBA1A licenses APC/C-mediated mitotic progression to drive glioblastoma growth by inhibiting PLK3. FEBS letters 7 37873730
2025 Mebendazole induces ZBP-1 mediated PANoptosis of acute myeloid leukemia cells by targeting TUBA1A and exerts antileukemia effect. Journal of advanced research 6 39952321
2011 Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse. Neuroscience 6 21875651
2018 A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene. Brain & development 5 29907476
2024 Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review. Frontiers in pediatrics 4 38813542
2017 Tubulin isotype specificity in neuronal migration: Tuba8 can't fill in for Tuba1a. The Journal of cell biology 4 28687668
2018 Aggressive Posterior Retinopathy of Prematurity and a TUBA1A Mutation inde Morsier Syndrome. Ophthalmic surgery, lasers & imaging retina 3 30114309
2017 An Intronic cis-Regulatory Element Is Crucial for the Alpha Tubulin Pl-Tuba1a Gene Activation in the Ciliary Band and Animal Pole Neurogenic Domains during Sea Urchin Development. PloS one 3 28141828
2024 SALL2 regulates neural differentiation of mouse embryonic stem cells through Tuba1a. Cell death & disease 2 39349437
2022 Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy. Stem cell research 2 35636247
2025 Prenatal Diagnosis of Tubulinopathy: Case Report of Neurosonographic Features and a Novel <italic>TUBA1A</italic> Variant. Fetal diagnosis and therapy 1 41171976
2022 Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita. American journal of medical genetics. Part A 1 35686685
2026 Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly. Orphanet journal of rare diseases 0 42177523
2024 A Novel Pathogenic TUBA1A Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features. Genes 0 39202391

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