ATXN3 Antibody (AMM10548A)
- Known as:
- ATXN3 Antibody (AMM10548A)
- Catalog number:
- amm10548a
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Aviva Systems Biology
- Gene target:
- ATXN3 Antibody (AMM10548A)
Related genes to: ATXN3 Antibody (AMM10548A)
- Gene:
- ATXN3 NIH gene
- Name:
- ataxin 3
- Previous symbol:
- SCA3, MJD
- Synonyms:
- ATX3, JOS
- Chromosome:
- 14q32.12
- Locus Type:
- gene with protein product
- Date approved:
- 1987-09-11
- Date modifiied:
- 2019-04-23
Related products to: ATXN3 Antibody (AMM10548A)
Related articles to: ATXN3 Antibody (AMM10548A)
- Obesity, characterized by abnormal fat accumulation with comorbidities, continues to increase dramatically, particularly in the pediatric population. Identifying the environmental and genetic causes underlying the development of obesity during early childhood is crucial for establishing preventive and protective treatments for this complex disease. We aimed to investigate genetic variants related to non-syndromic early-onset childhood obesity. - Source: PubMed
Publication date: 2026/04/29
Olgun Celebioglu Hazal BanuOzturk Ayse PinarPoyrazoglu SukranTuncer Feyza Nur - The deubiquitinase Ataxin-3 causes spinocerebellar ataxia type 3 (SCA3) upon polyglutamine (polyQ) expansion. While expressed in the nervous system, the function of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel therein remains unclear, as does its potential regulation by Ataxin-3. This study reveals that Ataxin-3 interacts with and promotes CFTR degradation in human microglia by its K63-linked polyubiquitination, thereby shortening CFTR's half-life. Paradoxically, K63-linked polyubiquitin chains also promote the degradation of Ataxin-3 itself, suggesting a complex feedback mechanism. The pathogenic Ataxin-3Q80 mutant exerts a stronger effect than the wild-type protein. Consequently, this Ataxin-3-CFTR axis drives microglial polarization toward a pro-inflammatory phenotype and amplifies neuroinflammation. We thus identify a novel "Ataxin-3-K63 ubiquitin chain-CFTR" pathway that controls microglial activation, offering new mechanistic insight and therapeutic targets for SCA3. MJDM: achado-Joseph disease; SCA3: spinocerebellar ataxia type 3; PolyQ: polyglutamine; CNS: central nervous system; CFTR: cystic fibrosis transmembrane conductance regulator; CF: cystic fibrosis; UIMs: ubiquitin-interacting motifs; MEM: Minimum Essential Medium; FBS: fetal bovine serum; P/S: penicillin/streptomycin; siRNA: small interfering RNA; BSA: bovine serum albumin; Co-IP: Co-immunoprecipitation; LPS: lipopolysaccharide; WT-CFTR: wild-type CFTR; CHX: Cycloheximide; 3-MA: 3-Methyladenine; IF: Immunofluorescence; IB: immunoblot; Ub: ubiquitin. - Source: PubMed
Publication date: 2026/05/26
Wang ZixinFan XueBai BingbingSong MengxueShi YeZhao YinghaoXie PengyuShi TaoHe ChunjiuHu YuhongWu QingtianHou Xia - Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disorder characterized by misfolded ataxin-3 aggregation and neuronal intranuclear inclusions. Its primary symptom is progressive ataxia, progressively restricting daily living activities. While repetitive transcranial magnetic stimulation (rTMS) may alleviate symptoms, the effects and mechanisms of specific rTMS paradigms, particularly intermittent and continuous theta burst stimulation (iTBS/cTBS), remain unclear in SCA3. This study therefore aimed to investigate the impacts of iTBS and cTBS on motor coordination, cerebellar neuroinflammation, and autophagy in SCA3 transgenic mice. Thirty 14-week-old SCA3 transgenic mice were randomly divided into sham, cTBS, and iTBS groups. Cerebellar stimulation was delivered at 30% maximum output (600 pulses/session, once daily, 5 days/week for 2 weeks). Motor coordination was assessed via rotarod and CatWalk gait analysis. Pathological changes were evaluated by measuring ataxin-3 protein and ubiquitin-positive inclusions. Cerebellar neuroinflammation was analyzed using Iba-1, CD206, and a cytokine array, while autophagy was assessed via Beclin-1 and LC3B expression. iTBS significantly improved motor coordination in SCA3 mice, reducing rotarod falls (vs. sham P < 0.001, vs. cTBS P < 0.05) and improving gait symmetry (vs. sham P < 0.05) and regularity index (vs. sham P < 0.01, vs. cTBS P < 0.01). It also alleviated cerebellar pathology, lowering ataxin-3 expression (vs. sham P < 0.01, vs. cTBS P < 0.01) and ubiquitin-positive inclusions (vs. sham P < 0.01, vs. cTBS P < 0.05). While both iTBS and cTBS increased Iba-1-positive cells (P < 0.05 and P < 0.05, respectively, vs. sham), only iTBS raised CD206-positive cells (vs. sham P < 0.05) and downregulated pro-inflammatory cytokines. Furthermore, iTBS activated autophagy, enhancing Beclin-1 (vs. sham P < 0.05) and LC3B expression (vs. sham P < 0.0001, vs. cTBS P < 0.001). iTBS improved motor coordination and alleviated core cerebellar pathology in SCA3 mice. This effect may be mediated through the downregulation of cerebellar neuroinflammation and the activation of autophagy. Furthermore, the therapeutic efficacy of iTBS was superior to that of cTBS across multiple dimensions, demonstrating distinct paradigm specificity. - Source: PubMed
Publication date: 2026/05/25
Chen Le-WenLian Yan-HuaDong Xiao-LeiLuo Kai-LiangZhan Li-QiongXie Li-LiSun Qi-KuiLin WeiGan Shi-RuiCheng Xiao-PingNi JunChen Xin-Yuan - Spinocerebellar ataxia type 3 (SCA3) is the most common autosomal dominant ataxia globally, caused by expanded CAG repeats in the ATXN3 gene and consequent pathogenic accumulation of mutant ATXN3 (mATXN3) aggregates. The formation of these aggregates perturbs neuronal functions and leads to progressive neurodegeneration, yet the molecular mechanisms controlling mATXN3 proteostasis remain incompletely understood. Here, we identify RAD23 homolog B (Rad23b), a ubiquitin-binding shuttle factor, as a potential regulator of mATXN3 aggregates and toxicity upon high throughput proteomic analysis. Functional assays reveal that Rad23b overexpression enhances, while Rad23b knockdown or knockout reduces, mATXN3 aggregates and neuronal cell death. Mechanistically, Rad23b directly interacts with mATXN3, promotes its ubiquitination, and facilitates its delivery to the proteasome. Paradoxically, Rad23b disrupts proteasome catalytic activity, preventing mATXN3 degradation and exacerbating aggregate formation. Immunohistochemical analysis in SCA3 transgenic mice confirms colocalization of Rad23b with mATXN3 aggregates in cerebellar neurons. These findings highlight Rad23b as a crucial modulator of mATXN3 proteostasis, and imply Rad23b as a potential therapeutic target in SCA3. - Source: PubMed
Publication date: 2026/05/22
Chen Yi-ChingTung Chih-WeiChan Siew ChinWu Po-MingCheng Pei-HsunChen Chuan-MuYang Shang-Hsun - Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy (X-ALD) is a rare adult-onset phenotype that typically presents with slowly progressive spasticity and cerebellar ataxia. This phenotype can exhibit no apparent parenchymal signal abnormalities on brain MRI, thereby mimicking spinocerebellar ataxia. We encountered a 48-year-old Japanese man who developed slowly progressive spasticity and cerebellar ataxia beginning at age 35. Brain MRI performed 4 years later revealed only subtle cerebellar atrophy. Repeat-expansion testing identified an intermediate-length ATXN3 allele with 49 CAG repeats, and he received a provisional diagnosis of spinocerebellar ataxia type 3. Thirteen years after onset, follow-up MRI revealed new bilateral T2 hyperintensities in frontopontine fibers and cerebellar white matter. Markedly elevated very-long-chain fatty acid levels in plasma and a pathogenic ABCD1 variant confirmed the diagnosis of cerebello-brainstem dominant form of X-ALD. Detailed assessment identified compensated adrenal insufficiency, and his mother displayed mild neurologic symptoms, suggesting symptomatic carriage. This case highlights the importance of careful evaluation for adrenal insufficiency and a detailed family history assessment to detect subtle X-linked features in recognizing cerebello-brainstem dominant form of X-ALD in patients with progressive ataxia. It also suggests that longitudinal brain MRI can provide important diagnostic clues in patients with undiagnosed progressive ataxia, as characteristic demyelinating lesions along the frontopontine tract might emerge over time. Furthermore, because intermediate alleles in polyglutamine diseases are low-penetrance variants present in the general population, clinicians should avoid premature diagnostic closure and maintain careful diagnostic follow-up when encountering this finding to avoid missing treatable alternatives. - Source: PubMed
Publication date: 2026/05/09
Nakagawa YukiSugiyama AtsuhikoShibuya KazumotoYokota HajimeMatsukawa TakashiIshiwata KazukiMori Masahiro