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

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

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

http://www.wikidata.org/entity/Q33947860

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A direct interaction between leucine-rich repeat kinase 2 and specific β-tubulin isoforms regulates tubulin acetylation Cerebral cortex expansion and folding: what have we learned?The cytoskeletal arrangements necessary to neurogenesis Genes and brain malformations associated with abnormal neuron positioning A developmental and genetic classification for malformations of cortical development: update 2012 Extracellular and Intracellular Signaling for Neuronal Polarity In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations.Structural basis of tubulin tyrosination by tubulin tyrosine ligase Genetic Basis of Brain Malformations Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformations TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.The genetics of lissencephaly.Differential regulation of polarized synaptic vesicle trafficking and synapse stability in neural circuit rewiring in Caenorhabditis elegans Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly Hereditary lissencephaly and cerebellar hypoplasia in Churra lambs Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.Identification of a 31-bp deletion in the RELN gene causing lissencephaly with cerebellar hypoplasia in sheep.What disorders of cortical development tell us about the cortex: one plus one does not always make two Malformations of cortical development: clinical features and genetic causes Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.Tubulin-tyrosine Ligase (TTL)-mediated Increase in Tyrosinated α-Tubulin in Injured Axons Is Required for Retrograde Injury Signaling and Axon Regeneration Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.Disorders of Microtubule Function in Neurons: Imaging Correlates Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors Deciphering the Role of Emx1 in Neurogenesis: A Neuroproteomics Approach De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy.Genetic regulation of human brain development: lessons from Mendelian diseases.Developmental disorders of the midbrain and hindbrain.Using C. elegans to decipher the cellular and molecular mechanisms underlying neurodevelopmental disorders.Neuronal vesicular trafficking and release in age-related cognitive impairment.The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

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P2860

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

http://www.wikidata.org/entity/Q33947860

description

2010 nî lūn-bûn

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2010 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2010 թվականի մայիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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name

TUBA1A mutations cause wide sp ...... ys converge on alpha tubulins.

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TUBA1A mutations cause wide sp ...... ys converge on alpha tubulins.

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TUBA1A mutations cause wide sp ...... ys converge on alpha tubulins.

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TUBA1A mutations cause wide sp ...... ys converge on alpha tubulins.

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TUBA1A mutations cause wide sp ...... ys converge on alpha tubulins.

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TUBA1A mutations cause wide sp ...... ys converge on alpha tubulins.

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Human Molecular Genetics

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TUBA1A mutations cause wide sp ...... ays converge on alpha tubulins

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Daniela T Pilz

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Gracia M S Mancini

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Gökhan Uyanik

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Kirsten Harvey

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Laura Yates

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Ravinesh A Kumar

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Robert J Harvey

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Stephanie Robb

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Timothy D Babatz

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P2860

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

Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

MAP2 and tau bind longitudinally along the outer ridges of microtubule protofilaments

High-resolution cryo-EM maps show the nucleotide binding pocket of KIF1A in open and closed conformations

Refined structure of alpha beta-tubulin at 3.5 A resolution

Structure of the alpha beta tubulin dimer by electron crystallography

All-atom empirical potential for molecular modeling and dynamics studies of proteins

VMD: visual molecular dynamics

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2817-2827

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scholarly article

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10.1093/HMG/DDQ182

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14

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19

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William B. Dobyns

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2010-05-12T00:00:00Z

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44596186

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20466733

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2893812

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