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ATXN10 encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis.
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Polymorphism in ATXN10 gene is associated with spinocerebellar ataxia type 10.
Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 expansions of ataxin-10 has been reported.
Single molecule real time sequencing of long tandem nucleotide repeats in spinocerebellar ataxia ATXN10 reveals unique insight of repeat expansion structure in three unrelated patients.
This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 (zeige LY6E Proteine) and SCA10 phenotype.
Inhibition of Aurora B or expression of the S12A mutant renders reduced interaction between Ataxin-10 and polo-like kinase 1 (Plk1), a kinase previously identified to regulate Ataxin-10 in cytokinesis.
Data suggest precursor mRNA for SCA10 (crystalized using two model AUUCU SCA10 repeats) exhibits the following conformation: the two asymmetric RNA molecules are antiparallel to each other and the interaction is stabilized by multiple hydrogen bonds.
the presence of repeat interruptions in SCA10 repeat expansion may have a role in epilepsy phenotype
The SCA10 pentanucleotide repeat expansion was not found among a group of Cypriot ataxia patients. All had 10-19 ATTCT repeats. Controls had 11-20 repeats, with 14 being the most common number.
Plk1 phosphorylates Ataxin-10 on Ser (zeige SIGLEC1 Proteine) 77 and Thr (zeige TRH Proteine) 82.
The expansion of the attct repeat in intron 9 of atxn10 is may caused Spinocerebellar ataxia type 10.
Ataxin-10, encoded by the SCA10 gene, interacts with O-linked N-acetylglucosamine in vivo and is modified by O-linked glycosylation in the insulinoma (zeige RPS15 Proteine) MIN6 cell line.
This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.
, MGC97716 protein
, Spinocerebellar ataxia type 10 protein homolog
, brain protein E46 homolog
, spinocerebellar ataxia type 10 protein
, ataxin 10 homolog
, neuronal beta-catenin-like protein
, spinocerebellar ataxia 10 homolog
, spinocerebellar ataxia type 10 protein homolog
, brain protein E46
, spinocerebellar ataxia 10
, testis expressed gene 169
, spinocerbellar ataxia type 10 protein-like protein