Associated Papers
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Predictive models of the genetic bases underlying budding yeast fitness in multiple environments.
Abá KES et al.
Biorxiv : the Preprint Server for Biology, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D et al.
Brain Communications, 2024
Insights on the Role of α- and β-Tubulin Isotypes in Early Brain Development.
Tantry MSA et al.
Molecular Neurobiology, 2023
Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.
Attard TJ et al.
Plos Computational Biology, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Schröter J et al.
European Journal of Human Genetics : Ejhg, 2022
Genetic heterogeneity in corpus callosum agenesis.
Pânzaru MC et al.
Frontiers in Genetics, 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
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M et al.
Genes, 2021
Loss-of-Function Plays a Major Role in Early Neurogenesis of Tubulin α-1 A (TUBA1A) Mutation-Related Brain Malformations.
Xie L et al.
Molecular Neurobiology, 2021
Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.
Fourel G et al.
Febs Letters, 2020
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC et al.
Nature Genetics, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical 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
Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.
Di Donato N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
A case of tubulinopathy presenting with porencephaly caused by a novel missense mutation in the TUBA1A gene.
Sato T et al.
Brain & Development, 2018
Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.
Gardner JF et al.
Brain Sciences, 2018
Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1.
Brock S et al.
European Journal of Human Genetics : Ejhg, 2018
Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.
Mencarelli A et al.
International Journal of Molecular Sciences, 2017
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
The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.
Chakraborti S et al.
Cytoskeleton (hoboken, N.j.), 2016
In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.
Bamba Y et al.
Molecular Brain, 2016
TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.
Yokoi S et al.
Scientific Reports, 2015
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Oegema R et al.
Human Molecular Genetics, 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
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.
Hikita N et al.
Brain & Development, 2014
Microtubules and neurodevelopmental disease: the movers and the makers.
Breuss M et al.
Advances in Experimental Medicine and Biology, 2014
Paclitaxel resistance by random mutagenesis of α-tubulin.
Yin S et al.
Cytoskeleton (hoboken, N.j.), 2013
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
Poirier K et al.
European Journal of Human Genetics : Ejhg, 2013
TUBA1A mutation-associated lissencephaly: case report and review of the literature.
Sohal AP et al.
Pediatric Neurology, 2012
Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse.
Edwards A et al.
Neuroscience, 2011
Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.
Friocourt G et al.
Acta Neuropathologica, 2011
Template-free 13-protofilament microtubule-MAP assembly visualized at 8 A resolution.
Fourniol FJ et al.
The Journal of Cell Biology, 2010
Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.
Tian G et al.
Human Molecular Genetics, 2010
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.
Kumar RA et al.
Human Molecular Genetics, 2010
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.
Lecourtois M et al.
Acta Neuropathologica, 2010
[Epileptogenic brain malformations: radiological and clinical presentation and indications for genetic testing].
Bahi-Buisson N et al.
Revue Neurologique, 2008
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.
Morris-Rosendahl DJ et al.
Clinical Genetics, 2008
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.
Bahi-Buisson N et al.
Journal of Medical Genetics, 2008
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
Fallet-Bianco C et al.
Brain : a Journal of Neurology, 2008
A pachygyria-causing alpha-tubulin mutation results in inefficient cycling with CCT and a deficient interaction with TBCB.
Tian G et al.
Molecular Biology of the Cell, 2008
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