Associated Papers
A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders.
Di Pasquale G et al.
Frontiers in Cellular Neuroscience, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of a Novel, Heterozygous TUBB2A Pathogenic Variant p.Gly98Arg.
Schmidt L et al.
Molecular Syndromology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
Cai S et al.
Journal of Human Genetics, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
Sferra A et al.
Human Molecular Genetics, 2018
De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay.
Ejaz R et al.
American Journal of Medical Genetics. Part A, 2017
De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
Rodan LH et al.
Journal of Child Neurology, 2017
Neurodegeneration and microtubule dynamics: death by a thousand cuts.
Dubey J et al.
Frontiers in Cellular Neuroscience, 2015
De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.
Cushion TD et al.
American Journal of Human Genetics, 2014
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