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A de novo heterozygous c.320A>G [p.(His 107 Arg)] mutation in TUBA1A was identified in a patient with microcephaly, epileptic seizures, and severe developmental delay.
Given that Spastin engages the MT in two places, we propose that severing occurs by forces exerted on the C-terminal tail of tubulin, which results in a conformational change in tubulin, which releases it from the polymer.
Molecular docking studies revealed that 6f interacted and bound ef fi ciently with the colchicine-binding site of tubulin. In addition, 6f treatment induced G2/M cell cycle arrest dose-dependently and subsequently induced cell apoptosis
induced pluripotent stem cells (iPSCs) from the umbilical cord and peripheral blood of two lissencephaly patients with different clinical severities carrying alpha tubulin (TUBA1A) missense mutations, were generated.
Long intergenic non-coding RNA APOC1P1-3 inhibits apoptosis by decreasing alpha-tubulin acetylation in breast cancer.
Results show that Tuba1a plays an essential, noncompensated role in neuronal saltatory migration in vivo and highlight the importance of microtubule flexibility in nucleus-centrosome coupling and neuronal-branching regulation during neuronal migration.
data suggest that the TUBA1A mutations disrupting lateral interactions have pronounced dominant-negative effects on microtubule dynamics that are associated with the severe end of the lissencephaly spectrum
Data show that tubulin phosphorylation and acetylation play important roles in the control of microtubule assembly and stability.
Data show that plasma membrane Ca(2+)-ATPase (PMCA) was associated with tubulin in normotensive and hypertensive erythrocytes.
Data suggest that tubulin functionally interact with the vimentin network in a cell-type specific manner.
Studies indicate that alpha-tubulin acetylation and microtubule level is mainly governed by opposing actions of alpha-tubulin acetyltransferase 1 (ATAT1) and histone deacetylase 6 (HDAC6).
Data from studies using peptide fragment of alpha-tubulin (residues 31-49) suggest that Ser38 is crucial for substrate recognition by alpha-tubulin acetylase 1 (ATAT1); Asp39, Ile42, the glycine stretch (residues 43-45), and Asp46 are also involved.
Lysine 40 acetylation of alpha-tubulin does not result in significant changes in kinesin-1's landing rate or motility parameters.
These results demonstrated that SelP interacts with tubulin, alpha 1a (TUBA1A).
This study show all foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations.
These findings call attention to PKC-mediated phosphorylation of alpha-tubulin as a novel mechanism for controlling the dynamics of microtubules that result in cell movement.
case provides new insight into the wide spectrum of disease phenotypes associated with TUBA1A mutation
The present study confirms that mutations in tubulin genes are responsible for complex brain malformation.
Studies suggest that tubulin-interactive agents have the potential to play a significant role in the fight against cancer.
Missense mutations in TUBA1A were found in 3 patients with polymicrogyria.
Lys40 of alpha-tubulin acetylation directly weakens inter-protofilament interactions.
the role of the human TBCE and TBCB chaperones in alpha-tubulin-beta-tubulin dissociation, was investigated.
Data suggest presence of unstructured C-terminal tubulin tail in Vdac1 pore (voltage-dependent anion channel 1) decreases pore's conductance and switches pore's selectivity from anionic to cationic rendering ATP transport virtually impossible.
TTL has specifically evolved to recognize and modify tubulin.
VDAC phosphorylation is an important determinant of its interaction with dimeric tubulin.
Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulins. The genes encoding these microtubule constituents belong to the tubulin superfamily, which is composed of six distinct families. Genes from the alpha, beta and gamma tubulin families are found in all eukaryotes. The alpha and beta tubulins represent the major components of microtubules, while gamma tubulin plays a critical role in the nucleation of microtubule assembly. There are multiple alpha and beta tubulin genes, which are highly conserved among species. This gene encodes alpha tubulin and is highly similar to the mouse and rat Tuba1 genes. Northern blotting studies have shown that the gene expression is predominantly found in morphologically differentiated neurologic cells. This gene is one of three alpha-tubulin genes in a cluster on chromosome 12q. Mutations in this gene cause lissencephaly type 3 (LIS3) - a neurological condition characterized by microcephaly, mental retardation, and early-onset epilepsy and caused by defective neuronal migration. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
, tubulin alpha-1 chain
, tubulin alpha-1A chain
, tubulin, alpha 1
, tubulin B-alpha-1
, tubulin alpha-3 chain
, tubulin, alpha, brain-specific
, alpha-tubulin 3
, tubulin, alpha 3
, Talpha1 alpha-tubulin
, alpha-tubulin isotype M-alpha-1
, alpha-tubulin ubiquitous
, tubulin K-alpha-1
, tubulin alpha-1B chain
, tubulin alpha-ubiquitous chain
, tubulin, alpha 1a
, tubulin alpha-1A chain-like
, tubulin, alpha 3d
, tubulin, alpha 3e
, Alpha-tubulin 1
, Tubulin alpha-1 chain
, tubulin alpha 3
, Alpha-tubulin 2
, Alpha-tubulin II
, Tubulin alpha-2 chain
, alpha-tubulin II
, tubulin alpha 1a L homeolog