Associated Papers
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
Epistatic, synthetic, and balancing interactions among tubulin missense mutations affecting neurite growth in Caenorhabditis elegans.
Lee HMT et al.
Molecular Biology of the Cell, 2021
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Distinct effects of tubulin isotype mutations on neurite growth in Caenorhabditis elegans.
Zheng C et al.
Molecular Biology of the Cell, 2017
De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.
Laquerriere A et al.
European Journal of Medical Genetics, 2016
Neurodegeneration and microtubule dynamics: death by a thousand cuts.
Dubey J et al.
Frontiers in Cellular Neuroscience, 2015
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
Fallet-Bianco C et al.
Acta Neuropathologica Communications, 2014
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.
Stottmann RW et al.
Human Molecular Genetics, 2013
An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
Cederquist GY et al.
Human Molecular Genetics, 2012
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
Guerrini R et al.
European Journal of Human Genetics : Ejhg, 2012
A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance.
Romaniello R et al.
Developmental Medicine and Child Neurology, 2012
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
Tischfield MA et al.
Current Opinion in Genetics & Development, 2011
The beta-tubulin gene TUBB2B is involved in a large spectrum of neuronal migration disorders.
Uribe V
Clinical Genetics, 2010
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
Jaglin XH et al.
Nature Genetics, 2009