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Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. Zusätzlich bieten wir Ihnen Ataxin 3 Antikörper (66) und viele weitere Produktgruppen zu diesem Protein an.
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Data suggest ATXN3 binds with low-micromolar affinity to both wild-type p97/VCP (zeige vcp Proteine) and mutants linked to proteostasis deficiency multisystem proteinopathy 1 (MSP1; also called hereditary inclusion body myopathy); stoichiometry of binding is one ATXN3 molecule per p97/VCP (zeige vcp Proteine) hexamer in presence of ATP; MSP1 mutants of p97/VCP (zeige vcp Proteine) bind ATXN3 irrespective of nucleotide state. (VCP (zeige vcp Proteine) = valosin-containing protein (zeige vcp Proteine)/ATPase; ATXN3 = ataxin-3)
DNA methylation (zeige HELLS Proteine) levels in the ATXN3 promoter were significantly higher in SCA3/MJD patients
data elucidate the important role of ataxin-3 proteolysis in the pathogenesis of Machado-Joseph disease.
The findings reveal ATXN3 to be a novel deubiquitinase of Chk1 (zeige CHEK1 Proteine), providing a new mechanism of Chk1 (zeige CHEK1 Proteine) stabilization in genome integrity maintenance.
Segregation patterns and factors influencing instability of expanded ATXN3 CAG transmissions in Machado-Joseph disease have been analyzed.
Our data reveal a previously unrecognized balance between pathogenic and potentially therapeutic properties of the ataxin-3-Rad23 interaction; they highlight this interaction as critical for the toxicity of the SCA3 protein, and emphasize the importance of considering protein context when pursuing suppressive avenues.
the opposing activities of RNF4 and ataxin-3 consolidate robust MDC1-dependent signaling and repair ofDNA double-strand break.
we demonstrated that neural differentiation in these iPS (zeige SLC27A4 Proteine) cells was accompanied by autophagy and that rapamycin promoted autophagy through degradation of mutant ATXN3 proteins in neurally differentiated spinocerebellar ataxia-3 (zeige SCN8A Proteine) human induced pluripotent stem cells (p < 0.05). In conclusion, patient-derived iPS (zeige SLC27A4 Proteine) cells are a good model for studying the mechanisms of SCA3 and may provide a tool for drug discovery in vitro.
South American cohort did not confirm the effect of the four candidate loci as modifier of onset age: mithocondrial A10398G polymorphism and CAGn at RAI1, CACNA1A, ATXN3, and ATXN7 genes
Ataxin-3 phosphorylation decreases neuronal defects in spinocerebellar ataxia type 3 models.
findings identify a novel molecular link between ATX-3 and p53 (zeige TP53 Proteine)-mediated cell death and provide an explanation for the direct involvement of p53 (zeige TP53 Proteine) in SCA3 disease pathogenesis
We show that chronic VPA treatment did not modify the ATXN3 inclusion load and astrogliosis in affected brain regions However, VPA chronic treatment was able to increase GRP78 (zeige HSPA5 Proteine) protein levels at 30 weeks of age, one of its known neuroprotective effects
work suggests that in Machado-Joseph disease, mutant ataxin-3 drives an abnormal reduction of ataxin-2 (zeige ATXN2 Proteine) levels, which overactivates poly(A)-binding protein, increases translation of mutant ataxin-3 and other proteins and aggravates Machado-Joseph disease.
SCA3 knockin mice exhibit robust Atxn3 accumulation both in regions known to be affected in human disease; also display altered splicing of the mutant Atxn3 transcript that results in the formation of a previously described alternative ATXN3 transcript
Data support the importance of ATXN3 in neuronal cells and indicate that an expanded polyQ tract leads to a partial loss of the cellular function of ATXN3 that may be relevant to neurodegeneration.
While ataxin-3 may participate in protein quality control pathways, it does not critically regulate the handling of mutant htt (zeige HTT Proteine) or contribute to major features of disease pathogenesis in Huntington disease (zeige HTT Proteine).
Results suggest that postnatal nuclear accumulation of mutant ataxin-3 disrupts dendritic differentiation and mGluR-signaling in mouse model spinocerebellar ataxia type 3 Purkinje cells
Lentiviral-based expression of mutant atxn-3 in the mouse cerebellum induces localized neuropathology sufficient to generate a behavioral ataxic phenotype.
Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice.
the efficacy of gene silencing in blocking the MJD-associated motor-behavior and neuropathological abnormalities
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.
, ataxin 3
, Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)
, Machado-Joseph disease protein 1
, ataxin 3 variant h
, ataxin 3 variant m
, ataxin 3 variant ref
, olivopontocerebellar ataxia 3
, spinocerebellar ataxia type 3 protein
, Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) homolog
, machado-Joseph disease protein 1 homolog