Associated Papers
Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.
Mollica A et al.
Nature Communications, 2025
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Yoon JG et al.
Genome Medicine, 2025
40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST2
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Dynamics of TUBB protein with five majorly occurring natural variants: a risk of cortical dysplasia.
Janakiraman V et al.
Journal of Molecular Modeling, 2023
Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant.
Shah YB et al.
British Journal of Haematology, 2023
Identification of two novel de novo TUBB variants in cases with brain malformations: case reports and literature review.
Watanabe K et al.
Journal of Human Genetics, 2021
Aberrant proteins expressed in skin fibroblasts of Parkinson's disease patients carrying heterozygous variants of glucocerebrosidase and parkin genes.
Sawangareetrakul P et al.
Biomedical Reports, 2021
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
Sferra A et al.
International Journal of Molecular Sciences, 2020
TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons.
Ngo L et al.
Human Molecular Genetics, 2014
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.
Breuss M et al.
Cell Reports, 2012
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