Associated Papers
Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.
Mollica A et al.
Nature Communications, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Advances in Genetics and Epigenetics of Developmental Coordination Disorder in Children.
You H et al.
Brain Sciences, 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
The tubulin database: Linking mutations, modifications, ligands and local interactions.
Abbaali I et al.
Plos One, 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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Clinical variability of TUBB-associated disorders: Diagnosis through reanalysis.
Li D et al.
American Journal of Medical Genetics. Part A, 2020
TUBB Variants Underlying Different Phenotypes Result in Altered Vesicle Trafficking and Microtubule Dynamics.
Sferra A et al.
International Journal of Molecular Sciences, 2020
Spectrum of clinical heterogeneity of β-tubulin TUBB5 gene mutations.
Madrigal I et al.
Gene, 2019
Genetics and mechanisms leading to human cortical malformations.
Romero DM et al.
Seminars in Cell & Developmental Biology, 2018
Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition.
Breuss MW et al.
Behavioural Brain Research, 2017
Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis.
Breuss M et al.
Development (cambridge, England), 2016
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