Ask about this productRelated genes to: NAGS Blocking Peptide
- Gene:
- NAGS NIH gene
- Name:
- N-acetylglutamate synthase
- Previous symbol:
- -
- Synonyms:
- AGAS, ARGA, NAT7
- Chromosome:
- 17q21.31
- Locus Type:
- gene with protein product
- Date approved:
- 2004-12-03
- Date modifiied:
- 2014-11-19
Related products to: NAGS Blocking Peptide
Related articles to: NAGS Blocking Peptide
- BackgroundInherited hyperammonemia is a challenging disorder to diagnose. Various enzymes can be mutated in the urea cycle, but NAGSD is the rarest one. In this case series, we report 2 siblings with a neurometabolic disorder and their neuroimaging findings and genome sequencing, which led to the discovery of a new variation in the related gene.Case SeriesA 16-year-old girl presented to the emergency department with a focal seizure, right paresis, and a Glasgow Coma Scale score of 9. Imaging of the brain indicated abnormalities in the dentate nucleus and parietal lobes. Severe malnutrition with high serum ammonia suggested an inherited urea cycle deficiency. A month later, her 7-year-old brother presented to the emergency department with fatigue, headaches, and neurodevelopmental regression. He was initially suspected of encephalitis or metabolic disorders, but he also had high serum ammonia and plasma glutamic acid. Whole exome sequencing indicated a variant of uncertain significance linked to NAGSD. Sanger sequencing confirmed an autosomal recessive pattern (c.791C>T, p.Thr264Met) in both siblings, with parents identified as heterozygote carriers.DiscussionAlthough most of the presentations in NAGSD happen early in life, both of our cases presented their neurologic presentations later than the usual reported age range. Previous investigation on this specific type of variation showed that NAGS activity is enough to live an everyday life, and the key problem is in the solubility of the enzyme, which has been decreased in the corresponding variation and can present later in life. - Source: PubMed
Publication date: 2026/04/25
Kooshki AlirezaMoosavian ToktamHosseini Mahya - Engineering molecular architectures enables the systematic investigation of how metal coordination and ligand geometry influence the fundamental interfacial properties of surfactants at the aqueous surface. Here, we report hexadecylpyridine-n-carboxylate metallo-gemini surfactants (MGSs) in which the organic linker is replaced by a coordinated metal cation, allowing for controlled self-assembly and tuning of interfacial organization. The precise chemical structure of the pyridine-n-carboxylate isomers (n = 2, 3, and 4; PAR, NAR, and INAR), together with their metal coordination modes, strongly influences the packing efficiency, line tension, and domain morphology of the corresponding MGS monolayers (Zn-PAGS, Zn-/Zr-NAGS, and Zn-INAGS) at the air-water and air-solid interfaces. Metal coordination is further expected to control the effective headgroup area, leading to more expanded interfacial films for the MGSs compared to corresponding metal-free Py-n-COR systems. Herein, metal ions Zn(II) and Zr(IV) with closed-shell electronic configuration are selected. The ability of PAR, NAR, and INAR to generate distinct coordination modes with Zn(II) arises from their constitutional isomerism, resulting in different metal-ligand binding geometries. For NAR, the use of Zr(IV), which adopts a higher coordination number than Zn(II), enables modulation of interligand separation. Density functional theory calculations show that MGSs adopt V-shaped structures, exhibiting wider interchain angles and larger methyl-to-methyl distances in the case of Zn-NAGS. The π- isotherms of the MGSs reveal a larger lift-off area than that of hexadecylpyridine-n-carboxylate, a metal-free analogue. The observed approximately doubled molecular area at zero surface pressure indicates that the MGSs behave as dimers relative to their conventional counterparts. Brewster angle microscopy and atomic force microscopy analyses reveal domain morphologies that are strongly dependent on the chemical structure of the MGSs, where Zn-PAGS forms more compact domains with higher line tension whereas Zn-NAGS exhibits confined domain expansion relative to NAR, consistent with reduced cooperative van der Waals interactions in the 1,3-ligand configuration. - Source: PubMed
Publication date: 2026/04/07
Eftaiha Ala'a FAl-Qaisi Feda'a MAssaf Haneen SAssaf Khaleel IFalahat Yazan YBarham Ahmad SViitaja TuomoEkholm Filip SPaige Matthew F - Randomized controlled trials (RCTs) encounter feasibility gaps when addressing rare genetic disorders and molecularly defined patient subgroups. The U.S. Food and Drug Administration has increasingly integrated real-world evidence (RWE) into the regulatory lifecycle. The objective of this article is to analyze the regulatory evolution following the 21st Century Cures Act and evaluate landmark drug approvals and expansions where real-world data (RWD) provided the primary or supplementary evidentiary foundation. A structured search of electronic databases, including PubMed, Embase, and Web of Science, was performed to identify relevant peer-reviewed articles. The tumor-agnostic approval of pembrolizumab demonstrated how RWE can establish clinical utility across multiple cancer types sharing specific biomarkers. For rare diseases like N-acetylglutamate synthase deficiency (carglumic acid), RWE provided essential external comparators where RCTs were impossible. In cystic fibrosis (ivacaftor), the U.S. Cystic Fibrosis Foundation Patient Registry facilitated indication expansions to ultra-rare genetic variants through longitudinal real-world outcomes. RWE proved vital for post-market surveillance in populations typically excluded from trials. While technical challenges in data interoperability and ethical concerns regarding genomic privacy remain, RWE offers a dynamic model that accelerates access to targeted therapies. The integration of high-fidelity RWD ensures that the safety and efficacy of precision medicines are validated within the complex global clinical practice. - Source: PubMed
Publication date: 2026/04/04
Nagel EmilyRoman Youssef M - As a relatively common respiratory disease, chronic obstructive pulmonary disease (COPD) has a high incidence and mortality rate. Mitochondrial dysfunction has been implicated in COPD pathogenesis, but the causal genes and underlying molecular mechanisms remain unclear. - Source: PubMed
Publication date: 2026/01/17
Hong ErMao JiaKe ZhichengWu Yang - Flotation separation of fluorite from dolomite is challenging due to their similar surface properties. In this study, neutralized alkali-gelatinized soluble starch (NAGS) was used as a flotation depressant. NAGS was prepared by gelatinizing soluble starch in an alkaline solution, followed by pH neutralization. The depressive performance and mechanism of NAGS in the fluorite-dolomite flotation separation were systematically investigated. Microflotation tests showed that, at pH 7 with a sodium oleate (NaOL) concentration of 30 mg/L and NAGS concentration of 100 mg/L, the recovery difference between fluorite and dolomite in single-mineral flotation reached as high as 95.10%. In the flotation concentrate of the artificially mixed mineral, the fluorite grade was 87.09%, and the fluorite recovery was 90.12%. NAGS exhibited a pronounced selective depressive effect on dolomite, which was further confirmed by contact angle measurements. Zeta potential measurements, Adsorption capacity measurements, Fourier-transform infrared (FTIR) spectroscopy, and X-ray photoelectron spectroscopy (XPS) were combined to elucidate the adsorption mechanism of NAGS. Collectively, NAGS adsorbs on both mineral surfaces via physisorption but with distinct dominant forces: electrostatic interactions predominate on fluorite, while hydrogen bonding is predominant on dolomite. This differential adsorption strength explains the selective depression of dolomite. - Source: PubMed
Publication date: 2026/02/18
Ren LiuyiLiu GuicaiBao ShenxuZhang YiminChen Minglian