Ask about this productRelated genes to: SOD1 antibody
- Gene:
- SOD1 NIH gene
- Name:
- superoxide dismutase 1
- Previous symbol:
- ALS, ALS1
- Synonyms:
- IPOA
- Chromosome:
- 21q22.11
- Locus Type:
- gene with protein product
- Date approved:
- 1986-01-01
- Date modifiied:
- 2019-04-23
Related products to: SOD1 antibody
Related articles to: SOD1 antibody
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with unclear pathogenesis. This study aimed to investigate the possible molecular mechanisms of ALS by analyzing protein structure and dynamics in a rapidly progressing ALS patient carrying the N87D mutation. A patient with the N87D mutation experienced rapid disease progression and died within one year. We reviewed all known mutations at the 87th position of the superoxide dismutase (SOD1) gene and the clinical characteristics. To investigate the molecular basis of the severe phenotype, we performed protein structure modeling and molecular dynamics (MD) simulations, and compared wild type homodimers, mutant homodimers, and heterodimers in terms of energy, residue fluctuation, number of hydrogen bonds, radius of gyration (Rg), principal component analysis (PCA), free energy landscape (FEL), the contribution of dimer interface residues, solvent-accessible surface area, and metal ion coordination. Our analysis revealed that patients with mutations at the 87th position of the SOD1 gene typically exhibited rapid disease progression. Protein structure modeling and MD simulations demonstrated that the N87D mutation significantly increased the energy and RMSF of SOD1 heterodimers compared to homodimers. Furthermore, Rg, FEL and PCA analyses showed that the heterodimers had a broader and more unstable conformational energy distribution, along with a stronger tendency for aggregation. Additionally, the N87D mutation disrupted metal ion coordination, further destabilizing the heterodimer and promoting protein misfolding. These findings suggest a potential molecular mechanism underlying ALS and support a protein structure based approach for investigating the pathogenic mechanisms of disease causing mutations. - Source: PubMed
Publication date: 2026/05/12
Pi ChenghuiLiu YangJia ZhihuaZhang MingjieWang XiaolinZhao HeDong ZhaoYu ShengyuanLiu Ruozhuo - Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive weakness due to degeneration of upper motor neurons in the brain and lower motor neurons in the brainstem and spinal cord. It affects approximately 25 000 individuals in the United States. - Source: PubMed
Publication date: 2026/05/11
Ravits JohnFerrey DominicGundogdu BetulQayoumi WaliZale Chelsea - Silica nanoparticles (SiNPs), as common feed additives, are widely applied in livestock diets and pose potential risks to reproductive health owing to their tissue accumulation. In the present study, we explored the effects and underlying mechanisms of SiNPs exposure during in vitro maturation (IVM) of porcine oocytes. The results showed that SiNPs significantly suppress porcine oocyte maturation as evidenced by decreased first polar body (PB1) release rate. Notably, SiNPs significantly induced abnormal expansion of cumulus cells and impaired gap junction intercellular communication (GJIC), accompanied by decreased Connexin 43 (CX43) expression and aberrant F-actin structure. Furthermore, DCFH-DA staining showed that SiNPs significantly increased reactive oxygen species (ROS) levels and malondialdehyde (MDA) content, and decreased the mRNA levels of antioxidant-related genes, including SOD1, SOD2, CAT, GPX1, PRDX2, and NRF2. JC-1 staining showed that SiNPs significantly induced mitochondrial dysfunction via diminished mitochondrial membrane potential (ΔΨm) and aberrant distribution, and decreased the mRNA levels of energy metabolism-related genes, such as NOX4 and COX2. Additionally, SiNPs significantly disrupted lysosomal function and cholesterol trafficking and decreased the mRNA levels of LDLR, NPC1, NPC2, and LAMP2, leading to reduced free cholesterol levels and the mRNA levels of estrogen synthesis-related genes, including STAR, CYP19A1, and HSD-3β. Collectively, SiNPs suppress porcine oocyte maturation, at least partly, through oxidative stress, metabolic disruption, and impaired cholesterol trafficking. - Source: PubMed
Publication date: 2026/05/08
Wang HaoxiangChen FengleiLiu YuanWang ChengfeiLiu QiYang ShengMa ZhiyuYuan Yu-GuoPan Shifeng - Heat stress (HS) causes organ damage and has detrimental impacts on the welfare and production in broilers. As a crucial immune organ, the spleen exerts a key role in immune homeostasis of broilers. Fucoidan (FUC) is a marine functional substance and extracted from seaweeds with multiple biological activities, such as anti-inflammatory and antioxidant effects. This experiment attempted to investigate the protective effect of fucoidan on HS-induced spleen injury in broilers. A total of 240 male Arbor Acres (AA) broilers at 21 d of age were randomly assigned to five groups: control (CON) group, HS group, and HS group supplemented with 200 (HS+FUC), 400 (HS+FUC) and 800 (HS+FUC) mg/kg FUC. The feeding trial lasted 21 d. The results showed that HS reduced the spleen index, impaired antioxidant capacity, and induced pathological damage in the spleens of broilers. Dietary supplementation with 200, 400, and 800 mg/kg FUC alleviated these injuries. Specifically, 800 mg/kg FUC improved the spleen index, antioxidant indicators and the splenic histomorphological pathology in broilers under HS. Therefore, 800 mg/kg of FUC was identified as the effective dosage for mitigating HS-induced splenic injury in broilers. Accordingly, this study further investigated the molecular mechanism of the beneficial effects of 800 mg/kg FUC. FUC upregulated the expression of antioxidant genes (NQO1, CAT, SOD1, SOD2, GCLC, GCLM, GSTA3, HO-1) and ferroptosis-related genes (GPX4, SLC7A11, Fpn1, FTH1), while downregulating the expression of inflammatory genes (IL-1β, IL-4, TNF-α, NF-κB) in the spleen of heat-stressed broilers. Besides, FUC reduced the protein expression of total P65 and p-P65, and enhanced the protein expression of total Nrf2 and p-Nrf2 in the spleen of heat-stressed broilers. The findings demonstrated that dietary supplementation of 800 mg/kg FUC alleviates HS-induced spleen damage in broilers by reducing the oxidative stress, ferroptosis and inflammation, and the protective role of FUC is related to the activation of Nrf2 signaling and the suppression of NF-κB signaling. This study offers theoretical support for applying FUC in improving the spleen health of broilers under HS conditions. - Source: PubMed
Publication date: 2026/04/27
Liu Qian-QianChen YueLiang Qi-HaoTian Shan-ZiYao Qing-HuaYe Xue-QingChen Jun-HongLiu Wen-Chao - : The genetic architecture of amyotrophic lateral sclerosis (ALS) has been predominantly characterized in populations of European ancestry, while Latin American populations remain underrepresented despite their complex admixture. : To map the molecular hypotheses explored in ALS research conducted in Latin American populations and identify key methodological and structural gaps. : A scoping review was conducted following Joanna Briggs Institute methodology and reported according to PRISMA-ScR guidelines. Searches were performed in Web of Science, Scopus, PubMed/MEDLINE, SciELO, and LILACS. Studies investigating genetic or molecular aspects of ALS or the ALS-FTD spectrum in Latin American populations were included. Data were extracted using a standardized matrix and synthesized descriptively. : Nineteen studies met inclusion criteria. Most were small, single-center investigations employing targeted candidate-gene approaches, predominantly focused on C9orf72 expansions and SOD1 mutations. Reported C9orf72 frequencies varied substantially across countries, indicating population-specific genetic heterogeneity. Only one study incorporated explicit ancestry inference, and no genome-wide association studies or large multicenter ALS genomic cohorts were identified. : ALS research in Latin America remains limited, fragmented, and largely candidate-gene driven, with minimal integration of ancestry-informed approaches. The absence of large-scale genomic studies, despite existing regional sequencing capacity, highlights the need for coordinated multicenter initiatives to enable equitable implementation of precision medicine. - Source: PubMed
Publication date: 2026/05/09
Flores Sergio VLillo PatriciaBriceño-Moya JorgePedro Ailin Pino-San