Results 101 to 110 of about 41,607 (263)

N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment

The Application of Clinical Genetics, 2011
Nicholas Ah Mew, Ljubica CaldovicCenter for Genetic Medicine Research, Children’s Research Institute, Children’s National Medical Center, Washington DC, USAAbstract: The conversion of ammonia into urea by the human liver requires the ...
Caldovic L, Ah Mew N
doaj  

Mitochondrial Carrier SLC25A13 Drives Ferroptosis Resistance and Immune Evasion via a STAT3–IFI6 Circuit in Breast Cancer

Advanced Science, EarlyView.
SLC25A13 is identified as an immunometabolic driver of triple‐negative breast cancer that sustains ferroptosis resistance and immune evasion through a STAT3–IFI6 circuit. Pharmacologic degradation of SLC25A13 restores ferroptosis sensitivity and enhances anti‐PD‐1 efficacy, highlighting a strategy to convert immune‐cold tumors into immunotherapy ...
Yingze Zhu, Yuhan Tang, Yingcui Chen, Zhuoqi Zhang, Yige Lu, Xinyue Wang, Qiyuan Shi, Wenhui Zhao, Hui Pang   +8 more
wiley   +1 more source

Molecular Diagnosis of Urea Cycle Disorders: Current Global Scenario

, 2013
357-362Urea cycle disorders are a group of inborn error of metabolism, characterized by hyperammonemia, metabolic alkalosis and clinical features of encephalopathy. These are among the commonest types of inborn errors of metabolism with a frequency of
Vaidyanathan, K
core  

SuFEx‐Enabled Reprogramming of Flavonoids for Selective α‐Glucosidase Covalent Inhibition

Advanced Science, EarlyView.
Selective inhibition of intestinal α‐glucosidase remains limited by poor enzyme specificity and off‐target metabolic effects. Here, SuFEx click chemistry is used to reprogram natural flavonoids into covalent inhibitors with enhanced α‐glucosidase selectivity and controlled reactivity. This strategy enables effective regulation of carbohydrate digestion
Fengyu Guo, Liwei Zhang, Minlong Wang, Yanjin Du, Tianyu Zhang, Hao Chen, Jiazeng Sun, Yang Yu, Zude He, Jie An, Xiaoxu Zhang, Weilin Lin, Fazheng Ren, Pengjie Wang, Ping Liu   +14 more
wiley   +1 more source

Plasma arginine levels in arginase deficiency in the “real world”

Molecular Genetics and Metabolism Reports
Background: Deficiency of arginase-1, the final enzyme in the urea cycle, causes a distinct clinical syndrome and is characterized biochemically by a high level of plasma arginine.
Pranoot Tanpaiboon, Yue Huang, Judy Z. Louie, Rajesh Sharma, Stephen Cederbaum, Denise Salazar   +5 more
doaj   +1 more source

Magnetically Boosted Water‐Splitting Performance in Metallic Glasses

Advanced Science, EarlyView.
A strategy for boosting water electrolysis efficiency using ultralow magnetic fields on soft‐magnetic MG wires is reported. Ni40Fe40P20 metallic glass exhibits superior overall water‐splitting performance (1.51 V @ 1000 mA cm−2) at 100 Oe, enabled by spin polarization in periodic surface magnetic domains to enhance orbital hybridization and net spin ...
Chaoqun Pei, Zheng‐Jie Chen, Yuyang Qian, Zhichao Lu, Dong Ma, Jiang Ma, Tao Feng, Jing Peng, Baoan Sun, Weihua Wang   +9 more
wiley   +1 more source

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises

Background: This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders (UCDs) with and without hyperammonemic (HA) crises.
Ah Mew, Nicholas, Urea Cycle Disease Consortium, Chanvanichtrakool, Mongkol, Schreiber, John M, Chen, Wei-Liang, Wilkening, Greta, Barber, John, Nagamani, Sandesh C S, Schulze, Andreas, Gropman, Andrea, Zhang, Anqing   +10 more
core   +1 more source

A Disaggregation Strategy for Nanopesticide Fabrication: Investigating the Impact of Nanosizing on Pesticide Biointeractions

Advanced Science, EarlyView.
To explore the impact of nanosizing on pesticide biointeractions, a 7‐nm (average) emamectin benzoate nanopesticide without nanocarriers or surfactants is fabricated via HOAc‐mediated disaggregation. Nanosizing enhances bioactivity against Megalurothrips usitatus and Meloidogyne enterolobii and improves plant penetration.
Jiaqi Wei, Jianxin Feng, Huiting Zhu, Kunzhong Lin, Chenhan Liu, Lin Li, Zhuoyan Xiao, Daihao Huang, Rong Liu, Huipeng Pan, Lingda Zeng, Hanhong Xu   +11 more
wiley   +1 more source

In Situ Confinement of 0D Halometallates Within Deep Eutectic Solvents: From Systematic Screening to Metal‐Tunable Luminescence for Anti‐Counterfeiting Eutectogels

Advanced Science, EarlyView.
We report photostable, photoluminescent deep eutectic solvents (DESs) powered by in situ‐formed zero‐dimensional (0D) halometallates. Stabilized by microenvironment‐controlling hydrogen bond acceptor (HBA) and donor (HBD) networks, these DESs exhibit vibrant, metal ion‐tunable emission (PLQY = 60.2%).
Jeesu Moon, Minkyu Jung, Woojin Jung, Jaeyune Ryu, Jae‐Seung Lee   +4 more
wiley   +1 more source

Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center

Molecular Genetics and Metabolism Reports
Arginase deficiency (ARG1d) is an inborn error of metabolism caused by pathogenic variants in ARG1 gene, which causes a defective hydrolysis of arginine (Arg) to urea and ornithine. The molecular landscape of ARG1d in Mexico is poorly known.
M. Vela-Amieva, C. Fernández-Lainez, S. Guillén-López, L. López-Mejía, M.A. Alcántara-Ortigoza, A. González del Angel, L. Fernández-Hernández, M.E. Reyna-Fabián, B. Estandía-Ortega, I. Ibarra-González, S.W. Ryu, H. Lee   +11 more
doaj   +1 more source