Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
about
Capture of microtubule plus-ends at the actin cortex promotes axophilic neuronal migration by enhancing microtubule tension in the leading processClassification, diagnosis and potential mechanisms in pontocerebellar hypoplasiaHuman-specific histone methylation signatures at transcription start sites in prefrontal neuronsRTTN mutations link primary cilia function to organization of the human cerebral cortexOverexpression, purification, and functional analysis of recombinant human tubulin dimerMutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystoniaCerebral cortex expansion and folding: what have we learned?The Altered Hepatic Tubulin Code in Alcoholic Liver DiseaseThe axonal cytoskeleton: from organization to functionGenetic analysis of a novel tubulin mutation that redirects synaptic vesicle targeting and causes neurite degeneration in C. elegansDifferential regulation of microtubule severing by APC underlies distinct patterns of projection neuron and interneuron migration.Non-centrosomal nucleation mediated by augmin organizes microtubules in post-mitotic neurons and controls axonal microtubule polarity.Reversal of axonal growth defects in an extraocular fibrosis model by engineering the kinesin-microtubule interface.Structural basis of tubulin tyrosination by tubulin tyrosine ligaseA Case for Microtubule Vulnerability in Amyotrophic Lateral Sclerosis: Altered Dynamics During DiseaseMutations in TUBB8 and Human Oocyte Meiotic ArrestA de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellumBeta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdownDrive the Car(go)s-New Modalities to Control Cargo Trafficking in Live CellsBiallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset EncephalopathyAn inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.The intricate relationship between microtubules and their associated motor proteins during axon growth and maintenance.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.Local inhibition of microtubule dynamics by dynein is required for neuronal cargo distribution.Tubulin Beta-3 Chain as a New Candidate Protein Biomarker of Human Skin Aging: A Preliminary Study.Phosphorylation of α-tubulin by protein kinase C stimulates microtubule dynamics in human breast cellsWhole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.The tubulin code: molecular components, readout mechanisms, and functionsPolymicrogyria: pathology, fetal origins and mechanisms.TUBB4A de novo mutations cause isolated hypomyelination.OSVZ progenitors in the human cortex: an updated perspective on neurodevelopmental disease.The marriage of quantitative genetics and cell biology: a novel screening approach reveals people have genetically encoded variation in microtubule stability.Microtubule dynamics in neuronal morphogenesis.Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.Writing and Reading the Tubulin Code.Convert your favorite protein modeling program into a mutation predictor: "MODICT"A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination.
P2860
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P2860
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.
description
2011 nî lūn-bûn
@nan
2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Phenotypic spectrum of the tub ...... of disease-causing mutations.
@ast
Phenotypic spectrum of the tub ...... of disease-causing mutations.
@en
type
label
Phenotypic spectrum of the tub ...... of disease-causing mutations.
@ast
Phenotypic spectrum of the tub ...... of disease-causing mutations.
@en
prefLabel
Phenotypic spectrum of the tub ...... of disease-causing mutations.
@ast
Phenotypic spectrum of the tub ...... of disease-causing mutations.
@en
P2093
P2860
P1476
Phenotypic spectrum of the tub ...... s of disease-causing mutations
@en
P2093
Elizabeth C Engle
Max A Tischfield
Mohan L Gupta
P2860
P304
P356
10.1016/J.GDE.2011.01.003
P577
2011-02-01T00:00:00Z