ETHE1 antibody Polyclonal Antibodies Primary antibodies
- Known as:
- ETHE1 (anti-) Polyclonal Antibodies Primary antibodies
- Catalog number:
- orb100027
- Product Quantity:
- 100
- Category:
- -
- Supplier:
- Biorb
- Gene target:
- ETHE1 antibody Polyclonal Antibodies Primary antibodies
Related genes to: ETHE1 antibody Polyclonal Antibodies Primary antibodies
- Gene:
- ETHE1 NIH gene
- Name:
- ETHE1 persulfide dioxygenase
- Previous symbol:
- -
- Synonyms:
- YF13H12, HSCO
- Chromosome:
- 19q13.31
- Locus Type:
- gene with protein product
- Date approved:
- 2003-12-15
- Date modifiied:
- 2019-01-22
Related products to: ETHE1 antibody Polyclonal Antibodies Primary antibodies
Related articles to: ETHE1 antibody Polyclonal Antibodies Primary antibodies
- BackgroundSarcopenia and Alzheimer's disease (AD) are prevalent comorbidities in older adults. Their common genetic basis remains unclear.ObjectiveUtilizing Genomic Structural Equation Modeling, we used European-ancestry genome-wide association study (GWAS) summary statistics to model sarcopenia-related traits. Multiple AD GWAS datasets and the sarcopenia GWAS dataset were used to conduct cross-trait analyses.MethodsGenome-wide and local genetic correlations were assessed using LDSC and LAVA. MiXeR was applied to evaluate shared versus trait-specific variants. Shared loci were identified using conjFDR. Candidate genes were further explored via tissue-specific expression (MetaXcan) and Mendelian randomization (MR).ResultsLDSC analysis revealed no significant genome-wide genetic correlation between AD and sarcopenia (rg = 0.020, p = 0.178). Bivariate LAVA analysis identified significant local genetic correlations at three specific genomic regions (chr3:183.2-184.5 Mb, chr8:144.9-146.3 Mb, and chr8:27.4-28.3 Mb; p < 0.05/90). MiXeR indicated moderate polygenic overlap (228 shared variants). ConjFDR identified 20 shared loci, and MetaXcan highlighted ETHE1, FEZ2, PHLDB3, and PINLYP. MR analysis indicated a positive causal effect of FEZ2 in excitatory neurons on AD and sarcopenia risk (FDR < 0.05).ConclusionsThis study indicates no significant genome-wide genetic correlation between sarcopenia and AD, while suggesting the presence of localized shared genetic signals at specific genomic regions. Dysregulation of the cytoskeleton and autophagy pathways may contribute to both sarcopenia and AD. FEZ2, ETHE1, PHLDB3, and PINLYP expression in muscle and brain may contribute to the comorbidity between sarcopenia and AD. Overall, these findings provide exploratory evidence for local shared genetic architecture between sarcopenia and AD. - Source: PubMed
Publication date: 2026/04/06
Ding KaixiJiang WeiLei MingGao Yongxiang - The role of sodium-glucose cotransporter-1 (SGLT1) in mitochondrial biology function remains unclear. This study aimed to investigate the causal association between SGLT1 inhibition and mitochondrial biology function via Mendelian randomization (MR) analysis. - Source: PubMed
Publication date: 2026/03/13
Fan GangQu Zi-Han - Persulfides (RSSH) have been proposed as key players in biochemical transformations that often involve iron, including iron-sulfur cluster assembly, HS regulation, post translational modifications, and mitochondrial sulfur oxidation. An example of the latter is found in the O-mediated oxidation of glutathione persulfide to sulfite dianion (SO) catalyzed by ETHE1, a nonheme iron persulfide dioxygenase (PDO). The iron-mediated mechanism of persulfide oxidation by PDOs remains poorly understood, and there are no synthetic analogues to date. Herein, we report the synthesis, characterization, and O reactivity of a rare iron(II)-alkylpersulfide complex. The adamantyl persulfide anion (AdSS-) was isolated and characterized by X-ray diffraction as a complex with potassium 18-crown-6 [K(18-crown-6)][AdSS], and employed in the synthesis of a new dinuclear iron(II) complex, [(Fe(MeTACN))(μ-SSAd)][OTf] (). Complex was characterized by single crystal X-ray diffraction (XRD), UV-vis, H/F NMR, and Fe Mössbauer spectroscopy. Reaction of with O in CHCN affords a diiron(III) oxo-bridged complex [(Fe(MeTACN))(μ-O)(μ-SO)(μ-SOAd)][OTf] () identified by XRD, and SO (∼0.5 equiv per Fe). Isotopic labeling studies using O and HO, supported by control experiments and ESI-MS analysis, indicate that SO production proceeds via an iron-centered S-oxygenation mechanism similar to that proposed for persulfide dioxygenases. - Source: PubMed
Publication date: 2026/03/12
Ballot Jasper GSiegler Maxime AGuo YisongMichel Sarah L JGoldberg David P - Reactive sulfur species (RSS), which include various persulfides and polysulfides, are generated by multiple enzymes and play critical roles in mammalian physiological processes such as redox signaling, metabolic regulation, radical scavenging and anti-inflammatory responses. Cystathionine -synthase (CBS), cystathionine -lyase (CSE) and 3-mercaptopyruvate sulfurtransferase (3MST) are well known to mediate endogenous production of hydrogen sulfide (HS), and, together with the mitochondrial isoform of cysteinyl-tRNA synthetase (CARS2), are proposed to be major sources of intracellular persulfides and polysulfides. In mitochondria, enzymes involved in the sulfide oxidation pathway, including sulfide:quinone oxidoreductase (SQOR), persulfide dioxygenase (ETHE1) and thiosulfate sulfurtransferase (TST), also contribute to maintaining and regulating intracellular persulfide levels. Selective inhibitors targeting these enzymes are expected to be powerful tools for elucidating the functions of RSS, as well as having therapeutic potential. In this review, we present a comprehensive overview of these enzymes, focusing on their reaction mechanisms and inhibitors. - Source: PubMed
Publication date: 2026/02/09
Hirabayashi KoSasaki EitaOhno HisashiTakayama OrieYamada SotaHanaoka Kenjiro - Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by biallelic pathogenic variants in , the gene encoding mitochondrial persulfide dioxygenase, an enzyme crucial for hydrogen sulfide (HS) detoxification. Loss of this enzyme results in HS accumulation, cytochrome c oxidase inhibition, oxidative stress, and disrupted energy metabolism. Clinically, ethylmalonic encephalopathy manifests during early infancy with developmental delay, hypotonia, progressive encephalopathy, seizures, chronic diarrhea, and microvascular abnormalities such as petechiae and acrocyanosis. Fewer than 100 cases have been reported globally, mostly among Mediterranean and Arab populations, with scarce data from Latin America. We report the first documented case of ethylmalonic encephalopathy in a Mexican patient. The affected male infant, born to healthy nonconsanguineous parents of indigenous Maya origin from Yucatán, presented at 2 weeks of age with persistent hemorrhagic diarrhea, followed by metabolic acidosis, hyperammonemia, hyperlactatemia, elevated C4-acylcarnitine, and increased urinary ethylmalonic acid. Neurological findings included developmental delay, hypotonia, and myoclonic epilepsy. Whole-exome sequencing revealed a homozygous frameshift pathogenic variant in ETHE1 (NM_014297.5):c.19_20dup (p.Val8Glyfs*7), predicted to introduce a premature stop codon and abolish protein function. Despite targeted interventions-antiepileptic therapy, ammonia-lowering treatment, and metabolic support-the patient's condition progressively worsened, culminating in death at 15 months after metabolic decompensation and brain death. This case broadens the known mutational spectrum of by identifying a previously unreported pathogenic variant and underscores the need to include ethylmalonic encephalopathy in the differential diagnosis of infants presenting with chronic diarrhea, vascular lesions, and neurological deterioration, even in regions where the condition is not typically observed. - Source: PubMed
Publication date: 2026/01/14
Ruiz-Martinez Delmer-AlejandroVega-Peniche Emilio-RodrigoQuiñonez-Pacheco YazminLaviada-Molina HugoMedina-Campos Carlos-AlejandroCampos-Garcia Felix-Julian