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anti-Human Ataxin 2 Antibodies:
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Human Polyclonal Ataxin 2 Primary Antibody for ICC, IF - ABIN4281956
Abraham, Chan, Salvi, Ho, Hall, Vidya, Guo, Killackey, Liu, Lee, Brown, Mekhail: Intersection of calorie restriction and magnesium in the suppression of genome-destabilizing RNA-DNA hybrids. in Nucleic acids research 2016
Show all 2 Pubmed References
Cow (Bovine) Polyclonal Ataxin 2 Primary Antibody for ELISA - ABIN4254775
Dubois, Trynka, Franke, Hunt, Romanos, Curtotti, Zhernakova, Heap, Adány, Aromaa, Bardella, van den Berg, Bockett, de la Concha, Dema, Fehrmann, Fernández-Arquero, Fiatal, Grandone, Green, Groen et al.: Multiple common variants for celiac disease influencing immune gene expression. ... in Nature genetics 2010
Human Polyclonal Ataxin 2 Primary Antibody for ICC, IF - ABIN4281955
Kaehler, Isensee, Nonhoff, Terrey, Hucho, Lehrach, Krobitsch: Ataxin-2-like is a regulator of stress granules and processing bodies. in PLoS ONE 2012
A novel variant in ATXN2 was identified in a Chinese population that was linked to age of onset in Machado-Joseph disease.
Among correlations found, such as that between dystonia and CAG expansion. Of note was the association between cognitive decline and the variant G at mitochondrial polymorphism A10398G, a variant formerly related to earlier ages at onset in SCA2 (show LY6E Antibodies).
SCA2 should be considered as a cause of typical Parkinson's disease phenotype even in the absence of cerebellar ataxia
Este es el primer estudio que (show DBT Antibodies) permite sugerir la asociacion del polimorfismo (CAG)n del gen (show GEN1 Antibodies) ATXN2 con (show DISP1 Antibodies) el desarrollo de DM tipo 2 pura (show PURA Antibodies) en poblacion de escasos recursos. Los alelos normales largos del VNTR son factores que (show DBT Antibodies) aumentan el riesgo para DM tipo 2 pura (show PURA Antibodies) en la poblacion mexicana analizada.
Deleterious non synonymous single nucleotide polymorphisms in ATXN2 Gene is associated with protein instability and conformational changes resulting in spinocerebellar ataxia.
Intermediate expansions of the CAG repeat (show CELF3 Antibodies) in ATXN2 are associated with amyotrophic lateral sclerosis. They are mostly associated with TDP-43 (show TARDBP Antibodies) proteinopathy, but not with 1C2-positive polyglutamine inclusions.
The findings of this sstudy suggest that ATXN2 may modify the known PINK1 (show PINK1 Antibodies) roles for mitochondrial quality control and autophagy during cell stress.
The conclusion pof (show POF1B Antibodies) this study , the transcriptome data do not exclude the role of ATXN2 mutated alleles in Parkinson disease but its decrease protein expression in both SCA2c and SCA2p patients suggest a potential involvement of this gene in Parkinson disease.
C9orf72 and ATXN2 repeat expansions cause ataxia, dementia, and parkinsonism in a Guyana family.
Intermediate length repeat expansions of CAG (polyQ) repeat in the ATXN2 gene have also been reported to increase the risk of developing ALS.
Atxn2(-/-) mice showed an unstable rhythmicity of locomotor activity, but the level of PER1 (show PER1 Antibodies) and PER2 (show PER2 Antibodies) IR in the SCN (show SRI Antibodies) did not differ between genotypes.
Findings provide evidence that the physiological functions and protein interactions of ATXN2 are relevant for calcium-mediated excitation of Purkinje cells as well as for ATXN2-triggered neurotoxicity.
Results from global proteome and metabolome profiling of Atxn2-KO mouse liver and cerebellum indicates that ATXN2 modulates nutrition and basal metabolism.
work suggests that in Machado-Joseph disease, mutant ataxin-3 (show ATXN3 Antibodies) drives an abnormal reduction of ataxin-2 levels, which overactivates poly(A)-binding protein, increases translation of mutant ataxin-3 (show ATXN3 Antibodies) and other proteins and aggravates Machado-Joseph disease.
ATXN2 interacted selectively with RGS8 (show RGS8 Antibodies) mRNA. This interaction was impaired when ATXN2 harbored an expanded polyglutamine. Mutant ATXN2 also reduced RGS8 (show RGS8 Antibodies) expression in an in vitro coupled translation
The physiological role of ATXN2 subtly modifies the abundance of cellular translation factors as well as global translation.
FBXW8 (show FBXW8 Antibodies) and PARK2 (show PARK2 Antibodies) are sequestrated into insolubility by ATXN2 PolyQ expansions, but only FBXW8 (show FBXW8 Antibodies) expression is dysregulated
In KO mice, ATXN2 deficiency alters steady-state levels of Grb2 and Src, but does not block Grb2-dependent Ras signaling.
our data support the concept that expanded ATXN2 undergoes progressive insolubility and affects PABPC1 (show PABPC1 Antibodies) by a toxic gain-of-function mechanism with tissue-specific effects, which may be partially alleviated by the induction of FBXW8 (show FBXW8 Antibodies).
Ataxin-2 is not essential in development or during adult survival in the mouse, but leads to adult-onset obesity.
The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined.
, spinocerebellar ataxia type 2 protein
, trinucleotide repeat containing 13
, trinucleotide repeat-containing gene 13 protein
, spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)
, spinocerebellar ataxia 2 homolog
, spinocerebellar ataxia type 2 protein homolog
, ataxin 2