Differential requirements of tubulin genes in mammalian forebrain development

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

(2018) Nataliya Di Donato et al.   GENETICS IN MEDICINE

Neuronal-Specific TUBB3 Is Not Required for Normal Neuronal Function but Is Essential for Timely Axon Regeneration

(2018) Alban Latremoliere et al.   Cell Reports

TUBA1A mutations identified in lissencephaly patients dominantly disrupt neuronal migration and impair dynein activity

(2018) Jayne Aiken et al.   HUMAN MOLECULAR GENETICS

Novel α-tubulin mutation disrupts neural development and tubulin proteostasis

(2016) M. Gartz Hanson et al.   DEVELOPMENTAL BIOLOGY

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy

(2016) Annie Laquerriere et al.   European Journal of Medical Genetics

De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria

(2016) Lance H. Rodan et al.   JOURNAL OF CHILD NEUROLOGY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations

(2016) Yohei Bamba et al.   Molecular Brain

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

(2015) Renske Oegema et al.   HUMAN MOLECULAR GENETICS

The expression oftubb2bundergoes a developmental transition in murine cortical neurons

(2015) Martin Breuss et al.   JOURNAL OF COMPARATIVE NEUROLOGY

TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation

(2015) Kenneth A. Myers et al.   PEDIATRIC NEUROLOGY

TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

(2015) Setsuri Yokoi et al.   Scientific Reports

De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy

(2014) Thomas D. Cushion et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

(2014) Nadia Bahi-Buisson et al.   BRAIN

Brain malformations and mutations inα- andβ-tubulin genes: a review of the literature and description of two new cases

(2014) Romina Romaniello et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Somatic Mutations in Cerebral Cortical Malformations

(2014) Saumya S. Jamuar et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

(2014) Catherine Fallet-Bianco et al.   Acta Neuropathologica Communications

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

(2013) Cas Simons et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

(2013) Thomas D. Cushion et al.   BRAIN

Polymicrogyria with dysmorphic basal ganglia? Think tubulin!

(2013) D. Amrom et al.   CLINICAL GENETICS

β-Tubulin mutations that cause severe neuropathies disrupt axonal transport

(2013) Shinsuke Niwa et al.   EMBO JOURNAL

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse

(2013) R.W. Stottmann et al.   HUMAN MOLECULAR GENETICS

Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation

(2012) Akihisa Okumura et al.   BRAIN & DEVELOPMENT

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance

(2012) ROMINA ROMANIELLO et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

(2012) Renzo Guerrini et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

(2012) Gustav Y. Cederquist et al.   HUMAN MOLECULAR GENETICS

Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities

(2012) Martin Breuss et al.   Cell Reports

Behavioral and neuromorphological characterization of a novel Tuba1 mutant mouse

(2011) Tamio Furuse et al.   BEHAVIOURAL BRAIN RESEARCH

The distribution of β-tubulin isotypes in cultured neurons from embryonic, newborn, and adult mouse brains

(2011) Jiayan Guo et al.   BRAIN RESEARCH

Focusing Forward Genetics: A Tripartite ENU Screen for Neurodevelopmental Mutations in the Mouse

(2011) R. W. Stottmann et al.   GENETICS

TUBA1A mutations: From isolated lissencephaly to familial polymicrogyria

(2011) A. C. Jansen et al.   NEUROLOGY

Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype

(2010) Magalie Lecourtois et al.   ACTA NEUROPATHOLOGICA

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

(2010) Max A. Tischfield et al.   CELL

Tumoral and tissue-specific expression of the major human β-tubulin isotypes

(2010) Luis J. Leandro-García et al.   Cytoskeleton

Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects

(2010) Karine Poirier et al.   HUMAN MOLECULAR GENETICS

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway

(2010) Guoling Tian et al.   HUMAN MOLECULAR GENETICS

TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins

(2010) Ravinesh A. Kumar et al.   HUMAN MOLECULAR GENETICS

Refining the phenotype of α-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

(2009) DJ Morris-Rosendahl et al.   CLINICAL GENETICS

Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria

(2009) Xavier Hubert Jaglin et al.   NATURE GENETICS