Human ATPase ASNA1(ASNA1) ELISA kit
- Known as:
- Human ATPase ASNA1(ASNA1) Enzyme-linked immunosorbent assay test reagent
- Catalog number:
- CSB-EL002218HU
- Product Quantity:
- 96T
- Category:
- -
- Supplier:
- Cusabio
- Gene target:
- Human ATPase ASNA1(ASNA1) ELISA kit
Related genes to: Human ATPase ASNA1(ASNA1) ELISA kit
- Gene:
- MT-ATP6 NIH gene
- Name:
- mitochondrially encoded ATP synthase membrane subunit 6
- Previous symbol:
- MTATP6, RP
- Synonyms:
- ATP6, ATPase-6, Su6m
- Chromosome:
- mitochondria
- Locus Type:
- gene with protein product
- Date approved:
- 1989-10-12
- Date modifiied:
- 2017-11-22
Related products to: Human ATPase ASNA1(ASNA1) ELISA kit
Related articles to: Human ATPase ASNA1(ASNA1) ELISA kit
- Leigh Syndrome Spectrum (LSS) is the most common pediatric mitochondrial disease syndromic presentation. However, its natural history has not been well-characterized, particularly across diverse populations. - Source: PubMed
Publication date: 2026/08/26
MacMullen Laura EStanley Katelynn DChristodoulou JohnCohen Bruce HDemczko MatthewGoldstein Amy CHaas RichardKoenig Mary KayPoblete MariaRice AlyssaRossman IanRuiz CarolinaRusso S NicholasThorburn David RUebergang EloiseYang Jennifer HZolkipli-Cunningham ZarazuelaFalk Marni J - Primary mitochondrial diseases (PMDs) are one of the most common genetic disorders with an estimated prevalence of 1 in 4300. This review article summarises the latest updates in the field of mitochondrial medicine over the last decade. The availability of exome and genome sequencing in clinical practice has empowered clinicians to unravel the phenotypic heterogeneity of PMD and to end the diagnostic odyssey experienced by many patients and families. In unresolved cases, the detection of variant(s) of unknown significance by next-generation sequencing creates diagnostic and clinical uncertainties, and integrating a multi-omics approach can improve diagnostic yield. Alongside breakthroughs in genomic technologies, there is growing interest in using fluid biomarkers to guide diagnosis, monitor disease progression, and potentially serve as clinical trial endpoints. However, the clinical application of these fluid biomarkers in unselected patient cohorts with different disease onset and phenotypes would require more robust evidence. Natural history studies derived from national and international collaborations have provided insights into genotype-phenotype relationships and prognostic factors across several genotypes, including m.3243A>G, , , and . Advances in therapeutic discoveries and clinical trials are challenging the obsolete dogma that PMDs are untreatable and bringing hope to patients; four compounds have been licensed, and many trials are in progress. Many barriers and challenges to translating laboratory discoveries into clinical therapy in PMD remain, including preclinical models for efficacy and safety testing, sample size, trial design, and the selection of outcome measures and trial endpoints. - Source: PubMed
Publication date: 2026/07/23
Lim Albert ZMoe Aye-MyatStefanetti Renae JNg Yi Shiau - Myocardial ischemia/reperfusion (I/R) injury remains a critical challenge in cardiovascular disease management. Although Chinese yam polysaccharides (CYPs), the primary bioactive macromolecules isolated from Thunb, exhibit well-documented antioxidant and anti-inflammatory properties, their cardioprotective efficacy against acute I/R injury and the underlying multiscale mechanisms remain unexplored. This study investigated the protective effects of CYPs using an in vivo mouse model of myocardial I/R injury. An in vivo mouse model of myocardial I/R injury was used to evaluate the effects of 7-day prophylactic CYPs treatment (400 mg/kg). Echocardiographic and histological analyses were performed, and serum myocardial injury biomarkers, oxidative stress indicators, pro-inflammatory cytokines, mitochondrial ultrastructure, ATP bioenergetics, mitochondrial respiratory chain gene expression, and gut microbiota composition were assessed. Echocardiographic and histological analyses revealed that CYPs pretreatment significantly ameliorated cardiac dysfunction, as indicated by increased LVEF from 28.98% to 57.68% and reduced myocardial infarct size by 36.73% compared with the I/R group and decreased serum myocardial injury biomarkers, including CK-MB, LDH, and LDH-1. Mechanistically, CYPs exerted robust cardioprotection by mitigating oxidative damage, with MDA levels reduced by 28.83% and SOD activity increased to 1.76-fold that of the I/R group, and suppressing the release of pro-inflammatory cytokines, including , , and . Crucially, CYPs intervention preserved mitochondrial ultrastructure and ATP bioenergetics, and levels increased to 1.51-fold that of the I/R group and upregulated the expression of essential mitochondrial respiratory chain genes, including , , , , and . Furthermore, 16S rRNA sequencing showed that CYPs treatment reshaped gut microbiota and elevated the relative abundance of anti-inflammatory and antioxidant beneficial genus . Collectively, these findings provide novel evidence that CYPs confer profound protection against myocardial I/R injury through a multitargeted network involving the restoration of mitochondrial homeostasis, attenuation of oxidative inflammation, and modulation of the gut microbiome, highlighting CYPs as a promising functional food-derived candidate for adjunctive therapy in ischemic heart disease. - Source: PubMed
Publication date: 2026/07/28
Zhang ZhengyangZhang YangShi YufangLuo XinyuWei ZhixiAn PengLuo YongtingLuo Junjie - Mitochondrial codon usage and selective pressures drive adaptive evolution and translation efficiency. This study provides insights into the evolutionary constraints shaping 13 core mitochondrial proteins in Corvides, based on 117 species, including 51 newly assembled genomes. We present evidence linking codon-level sequence architecture, protein structure, and selective pressures. These protein-coding genes (PCGs) are under strong purifying selection, with dN/dS ratios ranging from 0.00779 () to 0.16214 (). This conservation is reflected in the 3D model of MT-CO1, where conserved residues cluster within 12 transmembrane helices forming the core of its proton-pumping function. At the sequence level, we identify signatures of selection for translational efficiency, which are critical for accurate synthesis and folding. These signatures include a significant preference for "optimal" codons that perfectly match tRNA anticodons ( < 0.001). We also find lineage-specific features such as codon aversion motifs (CAMs). The gene exhibits complete aversion of the CGA codon in and of the ACT codon in . These sequence-level features resolve the deep phylogenetic relationships within the group, demonstrating the effectiveness of our multi-layered analytical framework. Overall, our results link codon-level sequence architecture with protein structural constraints, functional evolutionary signals, and mitochondrial genome evolution in Corvides. - Source: PubMed
Publication date: 2026/07/19
Xiao YingyingZhang MengsaXi MengtianHan ShiyunYang JiankePeng HuiGe WenDai ChenweiYang LuKan Xianzhao - To describe the longitudinal ophthalmic findings of a maternally related triad with neuropathy, ataxia, and retinitis pigmentosa and explore potential relationships between phenotype and heteroplasmy levels. - Source: PubMed
Publication date: 2026/07/08
Naveed FaizanAl-Burak Salem AbuHashemi ErfanBallios Brian GAboobaker Shaheer