Ask about this productRelated genes to: GAS8 antibody
- Gene:
- GAS8 NIH gene
- Name:
- growth arrest specific 8
- Previous symbol:
- GAS11
- Synonyms:
- DRC4
- Chromosome:
- 16q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 1998-03-23
- Date modifiied:
- 2015-11-23
Related products to: GAS8 antibody
Related articles to: GAS8 antibody
- Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous disorder leading to destructive airway disease with severe bronchiectasis and chronic lung failure in adulthood. Pathogenic variants in CCDC40 are associated with more severe reduction of lung function compared to most other PCD types. Currently, no therapies correcting the underlying disease mechanism are available. Here we investigate the efficacy of lipidoid nanoparticle-formulated mRNA encoding human CCDC40 (LNP-CCDC40-mRNA) as a corrective measure for structural and functional defects in vitro (human cells) and in vivo (zebrafish). Human nasal respiratory epithelial cells cultured at air-liquid-interface from five CCDC40-deficient individuals and a newly generated vertebrate animal model (ccdc40-/- zebrafish) were treated with LNP-CCDC40-mRNA. CCDC40-deficient cells were analyzed by high-speed video microscopy and immunofluorescence microscopy. ccdc40-/- zebrafish olfactory pit cilia were analyzed by high-speed video microscopy and fluid flow assays. Topical application of exogenous LNP-CCDC40-mRNA to CCDC40-deficient cells results in endogenous CCDC40 expression (10-74% of ciliated cells), enabling axonemal integration of CCDC40-associated proteins (CCDC39, GAS8/DRC4, DNALI1). Consistently, ciliary beat frequencies were significantly increased in treated CCDC40-deficient cells and comparable to healthy control cells. Further, we showed improved ciliary transport of fluorescent particles. Injection or topical application of human LNP-CCDC40-mRNA to ccdc40-/- zebrafish significantly increased ciliary motility and established directional flow in olfactory pits. We provide structural and functional evidence in vitro and in vivo for the biological efficacy of LNP-CCDC40-mRNA in CCDC40-deficient respiratory cells and zebrafish. Based on our results, an in vivo human study (Phase 1 trial) is planned in individuals with pathogenic variants in CCDC40. - Source: PubMed
Publication date: 2026/03/30
Wohlgemuth KaiRasteiro MargaridaAneja ManishBota CatarinaCindric SandraFreischem StefanieGeorge SebastianGünsel Gizem GünesIshola SeunKoenig JuliaKubisch-Dohmen RebekkaLangenickel ThomasLoges Niki TomasLopes MiguelMummert VerenaOlbrich HeikePennekamp PetraPereira TelmoPinto Andreia LRaidt JohannaRudolph CarstenTer Steege AdrianValecha DrishtiLopes Susana SOmran Heymut - A new family of manganese(I) carbonyl complexes, [2-OH-6-{CMeN(2,6-R-4-RCH)}CHN]MnBr(CO) (R = Pr, R = H Mn1a, R = Pr, R = Br Mn1b, R = H, R = Pr Mn1d, R = H, R = Me Mn1e), bearing 6-(arylimino)pyridine N,N-chelating ligands that are appended with a 2-hydroxyl group, have been synthesised and evaluated as catalysts in the transfer hydrogenation (TH) of acetophenone and its derivatives. This set of complexes, differing in their steric and electronic properties of their -aryl groups, reveal distinct catalytic performances with the least sterically hindered -4-isopropylphenyl derivative, Mn1d, the most active allowing TON's of up to 1030. Moreover, Mn1d proved highly effective for an assortment of aryl-methyl ketones with the steric/electronic profile of the substrate having an observable effect on conversion. Mechanistic studies involving DFT calculations point towards an outer-sphere mechanism that is distinctly affected by the steric properties of the -aryl groups of the manganese catalyst. - Source: PubMed
Publication date: 2026/04/30
Prettyman Samuel JAlqahtani SaadAlhalafi Mona HSingh KuldipSolan Gregory A - Sperm motility is essential for male fertility and depends on the structural integrity of the sperm axoneme, which features a canonical '9 + 2' microtubule arrangement. This structure comprises nine outer doublet microtubules (DMTs) that are associated with various macromolecular complexes. Among them, the nexin-dynein regulatory complex (N-DRC) forms crossbridges between adjacent DMTs, contributing to their stabilization and enabling flagellar bending. In this study, we investigated Ankyrin repeat and EF-hand domain containing 1 (ANKEF1, also known as ANKRD5), a protein highly expressed in the sperm axoneme. We found that ANKEF1 interacts with DRC5/TCTE1 and DRC4/GAS8, two key components of the N-DRC, and these interactions occur independently of calcium regulation. Male mice exhibited impaired sperm motility and infertility. Cryo-electron tomography revealed a typical '9 + 2' axoneme structure with intact DMTs in null sperm; however, the DMTs showed pronounced morphological variability and increased structural heterogeneity. Notably, ANKEF1 deficiency did not alter ATP levels, reactive oxygen species levels, or mitochondrial membrane potential. These findings suggest that ANKEF1 may attenuate the N-DRC's mechanical buffering-akin to a 'car bumper'-between adjacent DMTs, thereby compromising axonemal stability under high mechanical stress during vigorous flagellar beating. - Source: PubMed
Publication date: 2025/12/29
Yu ShuntaiYin GuoliangJin PengZhang WeilinTian YingchaoXu XiaotongShao TianyuLi YushanSun FeiZhu YunWang Fengchao - A direct one-pot assembly has been utilized for the preparation of 2-imino-6,7-dihydroquinlin-8(5)-imine-ferrous chloride complexes, [2-(ArN[double bond, length as m-dash]CCH)-8-(ArN)CHN]FeCl (Ar = 2-Me-4-(CHPh)-6-(CH)CHFe1, 2-Me-4-(CH)-6-(CHPh)CHFe2, 2-(CH)-4-Me-6-(CHPh)CHFe3, 2-(CH)-4,6-(CHPh)CHFe4, 2-(CH)-4,6-(CHPh)CHFe5, 2-(CH)-4,6-(CHPh)CHFe6, 2-F-4,6-(CHPh)CHFe7, 2-Cl-4,6-(CHPh)CHFe8], disparate in the steric/electronic profile of their -aryl groups. In addition to spectroscopic characterization, the structural properties of representative Fe3 and Fe5 have been determined by single crystal XRD. Under activation with MAO or MMAO, Fe1-Fe8 displayed very high catalytic activities for ethylene polymerization at 60 °C [up to 25.20 × 10 g (PE) per mol (Fe) per h for Fe2/MMAO]; even at temperatures as high as 100 °C the activity remained high [3.92 × 10 g (PE) per mol (Fe) per h]. Notably, the polymers generated using MMAO as activator showed distinctly lower molecular weight than those with MAO [ range: 1.36-62.41 kg mol (MMAO) 13.07-210.56 kg mol (MAO)], with -cycloalkyl-containing Fe4-Fe6 forming polymers at the lowest end of the range and with the narrowest dispersity ( / range: 1.6-2.3). Microstructural analysis of selected polymers highlighted the presence of both vinyl-terminated polymers and fully saturated polymers, the ratio of which could be influenced by not only the type of aluminum-alkyl activator but also by the run temperature and the -aryl substitution pattern. Significantly, the molecular weights of many of these polyethylenes fall within the specification range for polyethylene waxes used in industrial applications. - Source: PubMed
Publication date: 2025/09/24
Zhang RandiMa YanpingSolan Gregory AWang YizhouGao JiahaoLiang TonglingSun Wen-Hua - Primary ciliary dyskinesia (PCD) is an autosomal recessive rare disease caused by alterations in ciliary structure and function. Without a unique gold standard diagnostic test, the European Respiratory Society and the American Thoracic Society recommend using various diagnostic techniques to improve accuracy. This study aimed to demonstrate the effectiveness of immunofluorescence (IF) analysis in the diagnosis of PCD cases with uncertain genetic results and to demonstrate the importance of international collaboration in the diagnosis of PCD. - Source: PubMed
Publication date: 2025/03/20
Yuksel Kalyoncu MineHjeij RimYanaz MuruvvetGulieva AynurSelcuk Balcı MerveKarabulut ŞeydaMetin Cakar NevalErgenekon Almala PınarErdem Eralp ElaGokdemir YaseminOmran HeymutKaradag Bülent Taner