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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. Zusätzlich bieten wir Ihnen und viele weitere Produktgruppen zu diesem Protein an.
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Human Monoclonal ATXN7 Primary Antibody für ICC, IF - ABIN2668230
Yvert, Lindenberg, Picaud, Landwehrmeyer, Sahel, Mandel: Expanded polyglutamines induce neurodegeneration and trans-neuronal alterations in cerebellum and retina of SCA7 transgenic mice. in Human molecular genetics 2000
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Cow (Bovine) Polyclonal ATXN7 Primary Antibody für WB - ABIN2777891
Mu, Lin, Chen, Sung, Bai, Jow: The perinatal outcomes of asymptomatic isolated single umbilical artery in full-term neonates. in Pediatrics and neonatology 2009
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Human Polyclonal ATXN7 Primary Antibody für WB - ABIN446016
Fiszer, Wroblewska, Nowak, Krzyzosiak: Mutant CAG Repeats Effectively Targeted by RNA Interference in SCA7 Cells. in Genes 2016
Genetic testing showed the presence of 48 CAG repeats within one ATXN7 gene for spinocerebellar ataxia type 7 (SCA7).
we observed that carriers of either ATXN7 or TBP (zeige TBP Antikörper) alleles with relatively large CAG repeat (zeige CELF3 Antikörper) sizes in both alleles had a substantially increased risk of lifetime depression.
The intronic SNP rs6798742 is associated with ATXN7 CAG-region expansion.
Results identified a chromosomal translocation between Rad51C (zeige RAD51C Antikörper) and Ataxin-7 in colorectal tumors. The in-frame fusion transcript results in a fusion protein with molecular weight of 110 KDa. In vitro 5-Azacytidine treatment of colorectal tumor cells showed expression of the fusion gene is regulated by promoter methylation.
ATXN7 may be a potential predictor of post-operative prognosis of Hepatitis B Virus-related hepatocellular carcinoma .
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 (zeige DOM3Z Antikörper), CACNA1A (zeige CACNA1A Antikörper), ATXN3 (zeige ATXN3 Antikörper), and ATXN7 genes
Our study provided the clinico-genetic analysis of nine Indian SCA7 families and CAG repeat (zeige CELF3 Antikörper) distribution analysis in diverse Indian populations showed occurrence of ATXN7-CAG intermediate alleles in a predisposed population
Data show that the aggregates formed by polyQ-expanded ataxin 7 sequester ubiquitin-specific protease (USP22 (zeige USP22 Antikörper)) through specific interactions.
Two pathological polyglutamine proteins, truncated Ataxin-7 and full-length Ataxin-3 (zeige ATXN3 Antikörper), suggest that accumulation of insoluble aggregates beyond a critical threshold could be responsible for neurotoxicity.
The proband exhibited a typical phenotype of SCA7, which includes cone dystrophy and spinocerebellar ataxia.
Spleen-specific isoform of Pax5 (zeige PAX5 Antikörper) and Ataxin-7 can be considered as spleen-specific unique molecular markers for the evaluation of splenomegaly and lympho-proliferative disorders.
Results suggest that sequestration of both enzymatic centers in SAGA upon ATXN7 poly(Q) expansion likely contributes to spinocerebellar ataxia type 7 development and progression.
we found that HDAC3 (zeige HDAC3 Antikörper) increased the posttranslational modification of normal and expanded ataxin-7.
These results demonstrate that suppression of mutant ataxin-7 expression by only 50% in a polyQ disease model can have a significant impact on disease phenotypes, even when initiated after the onset of detectable behavioral deficits
findings demonstrate that loss of Gcn5 (zeige KAT2A Antikörper) functions can contribute to the time of onset and severity of SCA7 phenotypes, and suggest that non-transcriptional functions of SAGA may play a role in neurodegeneration in this disease
Ataxin-7 gene expression is governed by an antisense ncRNA transcript, SCAANT1, within the ataxin-7 repeat region where the CTCF (zeige CTCF Antikörper) binding sites reside, which regulates a previously unrecognized ataxin-7 sense promoter by convergent transcription.
polyglutamine-expanded ataxin-7 upregulates the expression of Bax (zeige BAX Antikörper) and Puma (zeige BBC3 Antikörper) and causes apoptotic neuronal death by enhancing phosphorylation and transcriptional activity of p53 (zeige TP53 Antikörper).
study suggests that polyglutamine-expanded ataxin-7-induced transcriptional dysregulation causes cerebellar dysfunction and ataxia
These results demonstrate an influence of SUMOylation on the multistep aggregation process of ATXN7 and implicate a role for ATXN7 SUMOylation in SCA7 pathogenesis.
glutamine expansion stabilizes mutant ataxin-7, provide an explanation for selective neuronal vulnerability, and show that mutant ataxin-7 impairs posttetanic potentiation (PTP).
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. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants.
, spinocerebellar ataxia type 7 protein
, spinocerebellar ataxia 7 homolog
, spinocerebellar ataxia type 7 protein homolog