ABAD _ HADH2 Antibody
- Known as:
- ABAD _ HADH2 Antibody
- Catalog number:
- AF1005a
- Product Quantity:
- 0.1mg
- Category:
- -
- Supplier:
- Abgen
- Gene target:
- ABAD _ HADH2 Antibody
Related genes to: ABAD _ HADH2 Antibody
- Gene:
- HSD17B10 NIH gene
- Name:
- hydroxysteroid 17-beta dehydrogenase 10
- Previous symbol:
- HADH2, MRXS10
- Synonyms:
- ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR
- Chromosome:
- Xp11.22
- Locus Type:
- gene with protein product
- Date approved:
- 1997-04-25
- Date modifiied:
- 2019-04-23
Related products to: ABAD _ HADH2 Antibody
Related articles to: ABAD _ HADH2 Antibody
- The C-terminal binding protein 1 (CTBP1) is a transcriptional corepressor with a major role in nervous system growth and development. There are only 20 published cases with mutations, displaying a phenotype of Hypotonia, Ataxia, Developmental Delay and Tooth enamel defect Syndrome (HADDTS). Histochemical evidence of decreased mitochondrial respiratory chain activity has been previously reported, but comprehensive data on the metabolic phenotype assessed by various cellular respiration parameters are still missing. We present a 10-year-old female with typical HADDTS features, harboring the most reported de novo heterozygous mutation c.991C>T. To elucidate her metabolic phenotype, we quantified mitochondrial respiration in peripheral blood mononuclear cells (PBMCs) utilizing an analyzer for assessing mitochondrial function (Seahorse XFp). Real-time metabolic assays revealed profound mitochondrial dysfunction with significantly attenuated maximal respiration and spare respiratory capacity compared to neurotypical controls. Following mitochondria-targeted nutritional support for one-year measurable bioenergetic improvements and reduced number of respiratory infections were registered. However, neurological recovery and new skill acquisition were not observed. We present a novel case of -related neurodevelopmental disorder and demonstrate, for the first time, the application of non-invasive, real-time mitochondrial functional assessment in this setting, providing additional evidence for mitochondrial dysfunction in HADDTS. - Source: PubMed
Publication date: 2026/04/29
Ivanov ZdravkoGevezova MariaPacheva IliyanaKetev KostadinChochkova-Bukova LyubovSarafian VictoriaIvanov Ivan - A series of novel naphtho[2,3-b]furan-4,9-dione derivatives were designed and synthesized as dual inhibitors targeting 17β-HSD10 and CDK5/p25. Through in vitro enzymatic inhibition assays, blood-brain barrier permeability prediction, and molecular docking analysis, derivative 5l was identified as a lead candidate and selected for further in vivo evaluation. Pharmacodynamic assessment in APP/PS1 transgenic mice demonstrated that 5l significantly improved cognitive performance in the Morris water maze test. Mechanistic studies revealed that 5l not only effectively ameliorated mitochondrial function, but also attenuated aberrant Tau phosphorylation, reduced Aβ deposition, inhibited neuroinflammation, and enhanced neurotrophic support. Western blot results indicated that the neuroprotective effects of 5l were not mediated by modulating the expression levels of 17β-HSD10 and CDK5, but rather through inhibiting their enzymatic activities. Collectively, these findings demonstrate that this class of dual inhibitors counteracts key pathological features of Alzheimer's disease through multi-target and multi-pathway synergy, providing a solid experimental foundation for the development of novel therapeutic agents for AD. - Source: PubMed
Publication date: 2026/04/17
Dao ShiyunCui ChaoHe WanqingLiu ErfengZhang LijunTang Huang - HSD10 mitochondrial disease (HSD10MD) is a rare X-linked disorder caused by pathogenic variants in the gene, encoding the mitochondrial enzyme 17β-hydroxysteroid dehydrogenase type 10 (HSD10). This enzyme is crucial for isoleucine degradation, neuroactive steroid metabolism, and mitochondrial function. HSD10MD typically presents in infancy or early childhood with severe neurodevelopmental regression, seizures, and cardiomyopathy, often leading to early mortality. Adult cases are extremely rare, with milder phenotypes associated with somatic mosaicism. - Source: PubMed
Publication date: 2026/02/26
Khodawrdi AlyaaMekki ChadiaLunati-Rozie ArianeFunalot Benoît - Epitestosterone (epiT) is the isomer of the androgen testosterone. Historically, the role of epiT has remained unclear. Recently, it has been reported that epiT promotes nuclear androgen receptor (AR)-dependent prostate cancer cell proliferation. The gut bacterium Clostridium scindens VPI 12708 was shown to convert androstenedione (AD) to epiT over three decades ago. The bacterial enzymatic pathways involved in epiT formation have only recently been reported. The desF gene encodes 17α-hydroxysteroid dehydrogenase which converts AD to epiT using NADPH as a cofactor. In this study, we quantitatively characterized DesF kinetic parameters and substrate specificity. The results revealed that the optimal pH for the reductive reaction is 7.0, and for the oxidative reaction it is 7.5 and 8.0. The kinetic analysis showed that for the reductive reaction, the K was 8.1 ± 1.8 µM and the V was 6.4 ± 0.3 µmol·min·mg; for the oxidative direction, the K was 27.3 ± 3.3 µM and the V was 7.2 ± 0.3 µmol·min·mg. Moreover, the substrate specificity analysis revealed that 11-keto-AD is the most favourable substrate for DesF, and the 17-keto group of 11-keto-AD can be converted to the 17α-hydroxy group. The phylogenetic relation between DesF and other characterized hydroxysteroid dehydrogenases reveals common ancestry with human HSD17B10 and Eggerthella lenta 3β-HSDH. These results are a significant advance in understanding epiT formation by the gut microbiome. - Source: PubMed
Publication date: 2026/03/05
Wang TaojunBinion BriawnaAlves João M PRidlon Jason M - Silica nanoparticles (SiO NPs) are widely used in biomedical and industrial applications, raising concerns about chronic exposure effects. This study investigated the impact of 90-day oral SiO NP exposure on male reproductive function in Wistar rats (n = 6). In accordance with OECD 408 guidelines and our 14-day range-finding study, doses of 500, 1000, and 2000 mg/kg were selected, with 2000 mg/kg identified as the highest nontoxic level for sub-chronic exposure, and reproductive endpoints including hormone levels, sperm quality, and testicular histopathology were subsequently evaluated. Exposure resulted in significant dose-dependent reductions in body weight, food intake, reproductive organ weights, and serum hormone levels such as testosterone (T), follicle-stimulating hormone (FSH), and luteinizing hormone (LH) (p < 0.001), accompanied by histopathological damage to testicular tissue. Sperm count, vitality, motility, and morphology were significantly and dose-dependently impaired. Enzymatic activities of testicular biomarkers-including acid phosphatase (ACP), glucose-6-phosphate dehydrogenase (G6PD), γ-glutamyl transferase (γ-GT), and succinate dehydrogenase (SDH) were significantly decreased (< 0.001), suggesting metabolic dysfunction. Real-time PCR analyses revealed downregulation of SF-1 and associated steroidogenic genes (HSD3B1, HSD17B10, StAR), which was associated with altered testosterone biosynthesis. The observed SF-1 downregulation was associated with altered steroidogenic regulation, possibly mediated through oxidative and endocrine stress pathways. This study highlights the importance of assessing the long-term safety of SiONPs and their impact on reproductive health, particularly in the context of SF-1-mediated mechanisms. - Source: PubMed
Publication date: 2026/03/05
Umapati YMalashetty Vijaykumar B