ATXN3
- Known as:
- ATXN3
- Catalog number:
- 002295A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- ATXN3
Related genes to: ATXN3
- 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
Related articles to: ATXN3
- Spinocerebellar ataxia type 3, also known as Machado-Joseph disease (MJD), is a fatal neurodegenerative disease caused by an expanded CAG repeat in ataxin-3 (ATXN3). Here, we investigated mitochondrial alterations across complementary MJD models, including transgenic zebrafish, CMVMJD135 mice and primary neuronal cultures. Proteomic profiling of brain lysates from male and female wild-type and CMVMJD135 mice identified mitochondrial alterations and altered oxidative phosphorylation-associated protein abundance as major shared features in both male and female MJD mice. Primary neuron cultures derived from CMVMJD135 mice were examined, validating the proteomic findings and revealing alterations in mitochondrial morphology. We further examined a transgenic zebrafish model of MJD that expresses EGFP-fused human ataxin-3 containing 84 glutamines in neurons (driven by the pan-neuronal elavl3/HuC promoter). The MJD zebrafish model also exhibited altered levels of mitochondrial electron transport chain complex proteins and enhanced sensitivity to rotenone. Notably, complex II-associated alterations featured across most assays, supporting complex II-linked dysregulation as a convergent, potentially targetable component of MJD. These phenotypes provide a robust platform for evaluating potential mitochondrial-targeted therapies and support growing evidence that disrupted mitochondrial homeostasis contributes to MJD pathogenesis. - Source: PubMed
Publication date: 2026/09/18
Simó IgnacioRobinson Katherine JKam Julia YWang YvonneKuriakose AndreaParic EsmeraldaCheng FloraPotapenko AnastasiyaAn YousunWatchon MaxinneLee AlbertLaird Angela S - MicroRNAs (miRNAs) have emerged as critical regulators in the pathogenesis of polyglutamine (PolyQ) diseases-a group of fatal neurodegenerative disorders caused by CAG repeat expansions, such as Huntington's disease, spinocerebellar ataxias, dentatorubral-pallidoluysian atrophy, and spinal and bulbar muscular atrophy. This review synthesizes recent advances in miRNA dysregulation across all nine PolyQ diseases, focusing on studies published since 2019. We examine how specific miRNAs modulate core pathogenic cascades-including mutant protein aggregation, transcriptional dysregulation, mitochondrial dysfunction, and apoptosis-and then link these molecular events to disease-relevant motor, cognitive, and psychiatric phenotypes. The review highlights therapeutic progress, including the preclinical efficacy of adeno-associated virus (AAV)-delivered artificial miRNAs and emerging exosome-based platforms that target mutant transcripts such as HTT, ATXN1, ATXN3, and ATXN7. AAV5-miHTT has advanced to a first-in-human trial for Huntington's disease (NCT04120493)-a key milestone in clinical translation. Circulating miRNAs in plasma and cerebrospinal fluid show diagnostic potential as minimally invasive, stage-specific biomarkers, but challenges persist in normalization, cross-biofluid concordance, and clinical validation. Despite substantial progress, translational barriers remain-including off-target effects, delivery optimization, immunogenicity, and patient heterogeneity. Overcoming these barriers will require integrative approaches that combine single-cell transcriptomics, engineered delivery systems, machine learning, and longitudinally phenotyped clinical cohorts. This review integrates mechanistic insights, biomarker discovery, and therapeutic development to move miRNA-based strategies toward disease-modifying interventions for PolyQ disorders. - Source: PubMed
Publication date: 2026/09/09
Liu YangCui YingSun MiaoGong LinLiu KailiangZhang SimiaoTan XiaopingCong Shuyan - Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is an autosomal dominant polyglutamine neurodegenerative disorder caused by a CAG repeat expansion in the ataxin-3 gene (ATXN3). Mutant ataxin-3 accumulation, oxidative stress, mitochondrial dysfunction, and impaired protein quality control contribute to its pathogenesis; however, no disease-modifying therapy is currently available. Omaveloxolone (RTA-408), an activator of nuclear factor erythroid 2-related factor 2 (Nrf2), is approved for Friedreich's ataxia, but its therapeutic potential in SCA3 remains unclear. - Source: PubMed
Publication date: 2026/08/05
Pan Shin-HungChang Jui-ChihLin Wan-HsuanLeng Fang-HsinCheng Wen-LingLin Wei-YongLiu Chin-San - Spinocerebellar ataxia type 10 (SCA10 or ATX-ATXN10) is typically attributed to large intronic ATTCT repeat expansions in ATXN10, yet interpretation is complicated by repeat interruptions, reduced penetrance, and assay limitations. - Source: PubMed
Publication date: 2026/08/08
Cornejo-Olivas MarioRaney AngelicaAbad AlonsoSedov KamillaSarapura-Castro ElisonSosa Harmony MManrique-Enciso CarlaTorres C Alejandra MoratoIllanes-Manrique MaryenelaDolzhenko EgorRivera-Valdivia AndreaQiao WanqiongSchüle Birgitt - Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by an abnormally long polyglutamine-encoding CAG repeat in the ATXN3 gene. - Source: PubMed
Publication date: 2026/08/07
Chetia HasnahanaKus LauraSipos ErikaHeintz NathanielMätlik Kert