Associated Papers
Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.
Mollica A et al.
Nature Communications, 2025
Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.
Ikegawa T et al.
Brain & Development, 2025
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
Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.
Attard TJ et al.
Plos Computational Biology, 2022
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
Mutation analysis of the TUBB8 gene in primary infertile women with arrest in oocyte maturation.
Wang AC et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2018
Novel mutations and structural deletions in TUBB8: expanding mutational and phenotypic spectrum of patients with arrest in oocyte maturation, fertilization or early embryonic development.
Chen B et al.
Human Reproduction (oxford, England), 2017
Mutations in α- and β-tubulin encoding genes: implications in brain malformations.
Romaniello R et al.
Brain & Development, 2015
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