Results 101 to 110 of about 3,452,999 (260)

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

OTUD6A‐Mediated Deubiquitination of PRDX1 Protects Against Oral Ulcer by Restoring Mitochondrial Function

Advanced Science, EarlyView.
In human oral keratinocytes, OTUD6A promoted cell migration by deubiquitinating and stabilizing PRDX1. Conversely, OTUD6A deficiency reduced PRDX1 stability, triggering mitochondrial dysfunction and aggravating OU progression. ABSTRACT Oral ulcers (OU), as the most highly prevalent and recurrent oral mucosal lesion, have an unclear pathogenesis that ...
Xiaoyu Sun, Ruiwei Jia, Xingbei Pan, Rui Huang, Jiahong Chen, Ziyi Yao, Lei Yin, Jun Ma, Hongjieliang Wang, Xinyu Huang, Yilin Ma, Yifan Ping, Yuanyuan Chen, Huining Wang, Shengbin Huang, Guang Liang   +15 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  

A Decoy‐Receptor‐Armed Biomimetic Nanotherapeutic With Inherent Tropism for Conserved Pathogenic Macrophages for Treating Osteoarthritis and Intervertebral Disc Degeneration

Advanced Science, EarlyView.
A biomimetic doppelgänger nanosystem neutralizes extracellular inflammatory cytokines and silences intracellular pyroptosis, reprogramming pathogenic macrophages to attenuate both joint and spine degeneration. ABSTRACT Osteoarthritis (OA) and intervertebral disc degeneration (IVDD) are debilitating musculoskeletal disorders driven by shared ...
Fudong Li, Bin Zhang, Zhiqiu Zhang, Bing Zheng, Linhui Han, Chen Yan, Jialin Li, Kaiqiang Sun, Tianyi Zhao, Jiangang Shi   +9 more
wiley   +1 more source

Urea cycle defects: management and outcome.

, 2005
This paper reviews the clinical presentation of 217 patients with urea cycle defects, including 121 patients with neonatal-onset forms and 96 patients with late-onset forms.
Héron, B., Nassogne, Marie-Cécile, Rabier, D., Saudubray, J M, Touati, G   +4 more
core   +1 more source

Dual‐Targeting Biomimetic Nanozymes Loaded Microneedle Patch Promotes Scarless Wound Healing Through Anti‐Inflammatory and Anti‐Fibrotic Effects

Advanced Science, EarlyView.
This study developed a dual‐targeting biomimetic nanozyme hybrid system (Cu‐CeO2@ABs‐FTP) and integrated it with HAMA hydrogel to fabricate a microneedle patch (CAF@MN). The patch promotes fibroblast‐mediated wound repair, targets macrophages to induce M2 polarization, and targets myofibroblasts to exert anti‐fibrotic effects, thereby enabling rapid ...
Hongyi Zhang, Jinwei Li, Shan Hua, Shengming Wu, Chenlong He, Yuan Zhu, Ming Yin, Han Zhou, Huawei Liu, Chika Hasegawa, Jun Lyu, Keyue Xiao, Hua Jiang, Yilong Wang, Yuxin Qian   +14 more
wiley   +1 more source

Klotho‐Derived Peptide 1 Protects against Acute Kidney Injury by Directly Targeting Mitochondrial ATAD3A

Advanced Science, EarlyView.
This study uncovers that KP1, a Klotho‐derived peptide, protects the kidney against acute kidney injury, a clinical syndrome with high morbidity and mortality. KP1 enters tubular epithelial cells via endocytosis, directly interacts with the mitochondrial ATAD3A/HIGD2A complex, thereby preventing cytochrome c release, and caspases activation, and ...
Xiaoyao Zhang, Shihui Lin, Tianyu Wu, Zhixin Zhang, Hong Zhou, Xue Hong, Youhua Liu   +6 more
wiley   +1 more source

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  

Disease‐Stage Synchronized Nanozyme Therapy for Polymicrobial Sepsis through Adaptive Catalytic and Immune Reprogramming

Advanced Science, EarlyView.
A disease‐stage synchronized nanozyme platform is developed to treat polymicrobial sepsis by adapting its functions to changing infection environments. The system eliminates multidrug‐resistant bacteria during early infection while reducing inflammation and restoring immune balance during recovery, providing an integrated strategy for infection control
Anlai Zou, Xiaoxue Zhu, Runhan Zhu, Chengchu Xue, Qinyu Zhang, Mengke Li, Ting Yu, Yuzhen Gao, Zhi Ruan, Ying Fu, Yunlei Xianyu, Jun Zhang   +11 more
wiley   +1 more source

Gut Microbiota‐Isoallolithocholic Acid Crosstalk Promotes Calcium Oxalate Kidney Stone Formation via PARP1‐Mediated Parthanatos

Advanced Science, EarlyView.
ABSTRACT Bile acids have been implicated in calcium oxalate (CaOx) nephrolithiasis. Here, we employ multi‐omics approaches to identify isoallolithocholic acid (isoalloLCA) as the key bile acid elevated in the feces, serum, kidney, and urine of CaOx rats, confirmed by spatial metabolomics.
Zijian Zhou, Ruixi Yu, Xuan Zhou, Feng Shi, Zeyu Lin, Peng Gao, Lujia Wang, Ninghan Feng, Zhong Wu, Dawei Wang   +9 more
wiley   +1 more source