Associated Papers
Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.
Ikegawa T et al.
Brain & Development, 2025
β3 accelerates microtubule plus end maturation through a divergent lateral interface.
Wood LM et al.
Molecular Biology of the Cell, 2025
TUBB3 and KIF21A in neurodevelopment and disease.
Puri D et al.
Frontiers in Neuroscience, 2023
A Novel De Novo TUBB3 Variant Causing Developmental Delay, Epilepsy and Mild Ophthalmological Symptoms in a Chinese Child.
Xue J et al.
Journal of Molecular Neuroscience : Mn, 2022
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.
Whitman MC
Annual Review of Vision Science, 2021
Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations.
Park K et al.
Frontiers in Cell and Developmental Biology, 2021
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
Dentici ML et al.
American Journal of Medical Genetics. Part A, 2020
Disease-associated mutations in human TUBB3 disturb netrin repulsive signaling.
Shao Q et al.
Plos One, 2019
Human TUBB3 Mutations Disrupt Netrin Attractive Signaling.
Huang H et al.
Neuroscience, 2018
Distinct effects of tubulin isotype mutations on neurite growth in Caenorhabditis elegans.
Zheng C et al.
Molecular Biology of the Cell, 2017
A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.
Shimojima K et al.
American Journal of Medical Genetics. Part A, 2016
Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
Whitman MC et al.
American Journal of Medical Genetics. Part A, 2016
Neurodegeneration and microtubule dynamics: death by a thousand cuts.
Dubey J et al.
Frontiers in Cellular Neuroscience, 2015
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.
Niwa S et al.
The Embo Journal, 2013
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
Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
Poirier K et al.
Human Molecular Genetics, 2010
Clinical heterogeneity associated with TUBB3 gene mutation in a Turkish family with congenital fibrosis of the extraocular muscles.
Ceylan AC et al.
Ophthalmic Genetics, 0
Postmortem Diagnostic Exome Sequencing Identifies a De Novo TUBB3 Alteration in a Newborn With Prenatally Diagnosed Hydrocephalus and Suspected Walker-Warburg Syndrome.
Powis Z et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0