Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects.
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Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfismMutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain developmentMutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and humanKinesin-5, a mitotic microtubule-associated motor protein, modulates neuronal migrationCerebral cortex expansion and folding: what have we learned?A developmental and genetic classification for malformations of cortical development: update 2012The cytoskeleton and neurite initiationMutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defectsBeta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdownProteomic analysis of adrenocorticotropic hormone treatment of an infantile spasm model induced by N-methyl-D-aspartic acid and prenatal stressFLRT2 and FLRT3 act as repulsive guidance cues for Unc5-positive neuronsDixdc1 is a critical regulator of DISC1 and embryonic cortical developmentAn inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.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.PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairmentLoss of SNAP29 impairs endocytic recycling and cell motilityDevelopmental activities of the complement pathway in migrating neurons.A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndromeEpilepsy genetics--past, present, and futureDistinct Features of Doublecortin as a Marker of Neuronal Migration and Its Implications in Cancer Cell Mobility.Three-dimensional regulation of radial glial functions by Lis1-Nde1 and dystrophin glycoprotein complexes.GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.Microtubule dynamics in neuronal morphogenesis.Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephalyRole of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyHuman intellectual disability genes form conserved functional modules in Drosophila.Morphological and functional aspects of progenitors perturbed in cortical malformations.What disorders of cortical development tell us about the cortex: one plus one does not always make twoNon-cell autonomous and non-catalytic activities of ATX in the developing brainGenomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.Dido mutations trigger perinatal death and generate brain abnormalities and behavioral alterations in surviving adult mice.Everolimus Stabilizes Podocyte Microtubules via Enhancing TUBB2B and DCDC2 Expression.Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis.Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.Genetic Demonstration of a Role for Stathmin in Adult Hippocampal Neurogenesis, Spinogenesis, and NMDA Receptor-Dependent Memory.Disorders of Microtubule Function in Neurons: Imaging CorrelatesMutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephalyAbnormal development of the human cerebral cortex.
P2860
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P2860
Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 26 October 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Tubulin-related cortical dysge ...... ng neuronal migration defects.
@en
Tubulin-related cortical dysge ...... ng neuronal migration defects.
@nl
type
label
Tubulin-related cortical dysge ...... ng neuronal migration defects.
@en
Tubulin-related cortical dysge ...... ng neuronal migration defects.
@nl
prefLabel
Tubulin-related cortical dysge ...... ng neuronal migration defects.
@en
Tubulin-related cortical dysge ...... ng neuronal migration defects.
@nl
P1433
P1476
Tubulin-related cortical dysge ...... ng neuronal migration defects.
@en
P2093
Jamel Chelly
Xavier H Jaglin
P304
P356
10.1016/J.TIG.2009.10.003
P577
2009-10-26T00:00:00Z