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The TUBB2B mutation described here represents an unusual recessive mode of inheritance for missense-mediated tubulinopathies and reinforces the sensitivity of the developing cerebellum to microtubule defects.
At the cellular level, the p.Cys239Phe TUBB2B mutant leads to tubulin (show TUBB ELISA Kits) heterodimerization impairment, decreased ability to incorporate into the cytoskeleton, microtubule dynamics alteration, with an accelerated rate of depolymerization
off-target, non-immune mediated effects of the mTOR (show FRAP1 ELISA Kits)-inhibitor everolimus on the podocyte cytoskeleton might involve regulation of microtubules, revealing a potential novel role of TUBB2B and DCDC2 (show DCDC2 ELISA Kits) in glomerular podocyte development
The association of polymicrogyria with thin or absent corpus callosum, dysmorphic basal ganglia, brainstem and vermis hypoplasia is highly likely to result from mutations in TUBB2B.
The present study confirms that mutations in tubulin (show TUBB ELISA Kits) genes are responsible for complex brain malformation.
Congenital fibrosis of the extraocular muscles and intellectual disability segregate with a heterozygous mutation in TUBB2B.
The TUBB2B and TUBA1 (show TUBA4A ELISA Kits) coding regions have been sequenced in patients with cortical malformations associated with these genes.
Three new TUBB2B mutations have been identified in three unrelated patients with a diffuse and rather symmetrical cortical abnormality.
Brain malformations are associated with mutations in the beta-tubulin (show TUBB ELISA Kits) gene TUBB2B, supporting its critical role in migration/organization and axon guidance processes.
TUBB2B is required for neuronal migration two disease-associated mutations lead to impaired formation of tubulin (show TUBB ELISA Kits) heterodimers.
The data presented here demonstrate that a heterozygous Tubb2b brdp/+ mutation in mice leads to significant spatial learning and memory reductions and conditioned contextual, but not cued, fear deficits.
study shows TUBB2B significantly upregulated in melanoma multinucleated giant cells, which indicates that it may play an important role in melanoma metastasis.
Study showed that Tubb2b is expressed in Sox2 (show SOX2 ELISA Kits)- and Tbr2 (show EOMES ELISA Kits)-positive neuronal progenitors and, at higher levels, in Dcx (show DCX ELISA Kits)-positive postmitotic neurons in the developing mouse neocortex
Results show that the missense mutation at a highly conserved residue (N247S) in Tubb2b gene represents the most severely affected mouse tubulin (show TUBB ELISA Kits) phenotype involving neuronal proliferation and survival.
A combination of molecular dynamics simulations and computational docking is used to identify a single high-affinity binding site on five beta-tubulin (show TUBB ELISA Kits) microtubule inhibitors adjacent to the exchangeable GTP (show AK3 ELISA Kits) site on beta-tubulin (show TUBB ELISA Kits).
Results suggest that the axonemal motif sequences of betaI, betaIV and betaV tubulin (show TUBB ELISA Kits) are essential for ciliary function.
These data indicate that phosphorylation of tubulin (show TUBB ELISA Kits) by Cdk1 (show CDK1 ELISA Kits) could be involved in the regulation of microtubule dynamics during mitosis.
The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria.
tubulin, beta 2b
, neural beta-tubulin
, tubulin, beta 2
, beta-tubulin class-II
, tubulin beta-2 chain
, tubulin, beta 2B
, hypothetical protein
, class II beta-tubulin isotype
, class IIb beta-tubulin
, tubulin beta-2B chain
, tubulin, beta polypeptide paralog
, tubulin, beta 2A class IIa
, tubulin, beta polypeptide
, beta-tubulin T beta15 (aa 1-445)
, t beta-15