Associated Papers
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Codon modification of Tuba1a alters mRNA levels and causes a severe neurodevelopmental phenotype in mice.
Leca I et al.
Scientific Reports, 2023
Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita.
Weber M et al.
American Journal of Medical Genetics. Part A, 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
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
A proteomic survey of microtubule-associated proteins in a R402H TUBA1A mutant mouse.
Leca I et al.
Plos Genetics, 2020
Tubulin mutations in brain development disorders: Why haploinsufficiency does not explain TUBA1A tubulinopathies.
Aiken J et al.
Cytoskeleton (hoboken, N.j.), 2020
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M et al.
Orphanet Journal of Rare Diseases, 2019
Genetics and mechanisms leading to human cortical malformations.
Romero DM et al.
Seminars in Cell & Developmental Biology, 2018
The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.
Aiken J et al.
Journal of Developmental Biology, 2017
Mutation of the α-tubulin Tuba1a leads to straighter microtubules and perturbs neuronal migration.
Belvindrah R et al.
The Journal of Cell Biology, 2017
Genes and brain malformations associated with abnormal neuron positioning.
Moffat JJ et al.
Molecular Brain, 2015
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
Neuronal migration and its disorders affecting the CA3 region.
Belvindrah R et al.
Frontiers in Cellular Neuroscience, 2014
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
Behavioral and neuromorphological characterization of a novel Tuba1 mutant mouse.
Furuse T et al.
Behavioural Brain Research, 2012
Epilepsy as a neurodevelopmental disorder.
Bozzi Y et al.
Frontiers in Psychiatry, 2012
Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse.
Edwards A et al.
Neuroscience, 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
The role of Tuba1a in adult hippocampal neurogenesis and the formation of the dentate gyrus.
Keays DA et al.
Developmental Neuroscience, 2010
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).
Poirier K et al.
Human Mutation, 2007
Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans.
Keays DA et al.
Cell, 2007