Associated Papers
Role of α-tubulin helix 11' in heterodimer conformation and microtubule dynamics.
Hoff KJ et al.
Biorxiv : the Preprint Server for Biology, 2026
Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.
Almpani K et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2025
Tubulin CFEOM mutations both inhibit or activate kinesin motor activity.
Luchniak A et al.
Molecular Biology of the Cell, 2024
A point mutation in the rice alpha-tubulin gene OsTUBA3 causes grain notching.
Xu C et al.
The New Phytologist, 2023
MAPping tubulin mutations.
Cushion TD et al.
Frontiers in Cell and Developmental Biology, 2023
TUBB3 and KIF21A in neurodevelopment and disease.
Puri D et al.
Frontiers in Neuroscience, 2023
Clinical and genetic characteristics of Chinese patients with congenital cranial dysinnervation disorders.
Jia H et al.
Orphanet Journal of Rare Diseases, 2022
The molecular biology of tubulinopathies: Understanding the impact of variants on tubulin structure and microtubule regulation.
Hoff KJ et al.
Frontiers in Cellular Neuroscience, 2022
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Whitman MC et al.
Human Genetics, 2021
Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.
Whitman MC
Annual Review of Vision Science, 2021
A framework for the evaluation of patients with congenital facial weakness.
Webb BD et al.
Orphanet Journal of Rare Diseases, 2021
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
Lehky T et al.
Muscle & Nerve, 2021
The Mechanism of Tubulin Assembly into Microtubules: Insights from Structural Studies.
Knossow M et al.
Iscience, 2020
Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant.
Thomas MG et al.
The British Journal of Ophthalmology, 2020
Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.
Aiken J et al.
Cytoskeleton (hoboken, N.j.), 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
Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.
Whitman MC et al.
Human Molecular Genetics, 2017
Axons get ahead: Insights into axon guidance and congenital cranial dysinnervation disorders.
Chilton JK et al.
Developmental Neurobiology, 2017
Mutations in Human Tubulin Proximal to the Kinesin-Binding Site Alter Dynamic Instability at Microtubule Plus- and Minus-Ends.
Ti SC et al.
Developmental Cell, 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
Reversal of axonal growth defects in an extraocular fibrosis model by engineering the kinesin-microtubule interface.
Minoura I et al.
Nature Communications, 2016
The congenital cranial dysinnervation disorders.
Gutowski NJ et al.
Archives of Disease in Childhood, 2015
A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.
Hong YB et al.
Molecular Medicine Reports, 2015
Congenital and Genetic Ocular Motility Disorders: Update and Considerations.
Oystreck D
The American Orthoptic Journal, 2015
Genetic analysis of a novel tubulin mutation that redirects synaptic vesicle targeting and causes neurite degeneration in C. elegans.
Hsu JM et al.
Plos Genetics, 2014
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
Congenital cranial dysinnervation disorders: a concept in evolution.
Bosley TM et al.
Current Opinion in Ophthalmology, 2013
β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.
Niwa S et al.
The Embo Journal, 2013
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
Chew S et al.
Brain : a Journal of Neurology, 2013
Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis.
Tischfield MA et al.
Bioscience Reports, 2010
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Tischfield MA et al.
Cell, 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