Results 111 to 120 of about 3,294,575 (284)

Is there any relationship between mutation in CPS1 Gene and pregnancy loss?

International Journal of Reproductive BioMedicine, 2019
Background Carbamoyl phosphate synthetase 1 (CPS1) is a liver-specific enzyme with the lowest enzymatic rate, which determines the overall rate of the other reactions in the pathway that converts ammonia to carbamoyl phosphate in the first step of ...
Mehrdad Talebi, Mohammad Yahya Vahidi Mehrjardi, Kambiz Kalhor, Mohammadreza Dehghani   +3 more
doaj   +1 more source

AHR‐Responsive Carbon Dots Orchestrate Skin Wound Healing and Colonic Mucosal Repair via Treg‐Mediated Macrophage Efferocytosis

Advanced Science, EarlyView.
Guided by pharmacophore modeling and molecular docking, aryl hydrocarbon receptor (AHR)‐responsive carbon dots were synthesized. They bind directly to AHR and expand gut‐resident regulatory T (Treg) cells. Treg‐derived C‐C motif chemokine ligand 1 (CCL1) enhances macrophage efferocytosis, creating a pro‐regenetative niche that promotes colonic mucosal ...
Zilu Zhu, Han Zhang, Shuai Lin, Wenqian Zheng, Xin Li, Xiaowei Xu, Ruili Yang   +6 more
wiley   +1 more source

New developments in the treatment of hyperammonemia: emerging use of carglumic acid

International Journal of General Medicine, 2011
Marta Daniotti1, Giancarlo la Marca2, Patrizio Fiorini1, Luca Filippi11Neonatal Intensive Care Unit, Department of Perinatal Medicine, “A. Meyer” University Children’s Hospital, Florence, Italy; 2Mass Spectrometry, Clinical ...
Marta Daniotti, Giancarlo la Marca, Patrizio Fiorini, et al   +3 more
doaj  

Pegzilarginase in Arginase 1 Deficiency: Clinical and Biochemical Effects of Treatment Initiation, Discontinuation and Re-Initiation

Children
Background: Arginase 1 deficiency (ARG1-D) is an ultra-rare urea cycle disorder characterized by hyperargininemia and progressive neurological impairment, including spasticity, loss of motor function, and reduced quality of life.
Martha Caterina Faraguna, Viola Crescitelli, Roberta Pretese, Maria Valvassori Bolgè, Vera Marchetti, Giusi Sgroi, Stefania Sala, Silvia Gigante, Cristina Bonfanti, Adriana Balduzzi, Serena Gasperini   +10 more
doaj   +1 more source

Comparison of Microflow and Analytical Flow Liquid Chromatography Coupled to Mass Spectrometry Global Metabolomics Methods Using a Urea Cycle Disorder Mouse Model. [PDF]

J Proteome Res, 2022
Geller S, Lieberman H, Belanger AJ, Yew NS, Kloss A, Ivanov AR.   +5 more
europepmc   +1 more source

Molecular Glue Degraders Enhance CAPRIN1‐Dependent Lysosomal Degradation of APP and Reduce Amyloid β in Alzheimer's Disease

Advanced Science, EarlyView.
A new class of lysosome‐directed molecular glue degraders selectively enhance CAPRIN1–APP interactions, driving APP degradation and reducing amyloid‐β production in human neurons and Alzheimer's disease mouse models. This CAPRIN1‐dependent targeted protein degradation strategy reveals a previously unrecognized therapeutic approach for disrupting the ...
Sunghan Jung, Xu Wang, Bin Liu, Raktim Roy, Nancy Jaiswal, Ratan K. Rai, Yuichiro Takagi, Cen Gao, Lifan Zeng, Ho‐Yin Lo, Reagan K. Wohlford, Ryan K. Higgins, Bruce T. Lamb, Anantha Shekhar, Anita C. Bellail, Chunhai Hao   +15 more
wiley   +1 more source

Recurrent Altered Mental State Associated with Nonhepatic Hyperammonemia Presented in an Elderly Female Patient: Probable Late-Onset Urea Cycle Disorder. [PDF]

J Epilepsy Res, 2021
Lee JJ, Cho S, Kim BK, Kwon O, Park JM, Lee WW, Kang K.   +6 more
europepmc   +1 more source

Mitochondria‐Targeted Multimodal Nanotherapeutics Suppress Oxidized mtDNA‐Driven Inflammation at the Source

Advanced Science, EarlyView.
Ox‐mtDNA fragments escaping from mitochondria drive robust inflammatory responses. A targeted nanoplatform simultaneously inhibits mitochondrial FEN1‐mediated mtDNA cleavage and scavenges ROS, preventing the generation of immunogenic Ox‐mtDNA fragments. The released SeNPs further promote autophagic clearance of cytosolic mtDNA. Consequently, cGAS‐STING,
Wen‐Ling Li, Juan Cao, Yu‐Lin Wang, Yu‐Han Fan, Jia‐Qi Xu, Xian Wu Cheng, Lei Xing, Hu‐Lin Jiang   +7 more
wiley   +1 more source

Citrin-deficient patient-derived induced pluripotent stem cells as a pathological liver model for congenital urea cycle disorders

Molecular Genetics and Metabolism Reports
Citrin deficiency is a congenital secondary urea cycle disorder lacking useful disease models for effective treatment development. In this study, human induced pluripotent stem cells (iPSCs) were generated from two patients with citrin deficiency and ...
Mai Okano, Masahiro Yasuda, Yui Shimomura, Yoshikazu Matsuoka, Yasumasa Shirouzu, Tatsuya Fujioka, Masatoshi Kyo, Shoji Tsuji, Kazunari Kaneko, Hirofumi Hitomi   +9 more
doaj   +1 more source

Current role of enzyme analysis for urea cycle disorders

, 2014
Urea cycle disorders (UCD) are due to defects of any of its six enzymes or two transporters. The definitive diagnosis of defects of the three mitochondrial enzymes, N-acetylglutamate synthase (NAGS), carbamylphosphate synthetase I (CPS1) and ornithine ...
Eggimann, Sandra, Nuoffer, Jean-Marc, Gautschi, Matthias, Eggimann, Seila   +3 more
core   +1 more source