Visualization of Argininosuccinate Synthetase by in Silico Analysis: Novel Insights Into Citrullinemia Type I Disorders [PDF]
Frontiers in Molecular BiosciencesBackgroundCitrullinemia type I disorders (CTLN1) is a genetic metabolic disease caused by argininosuccinate synthetase (ASS1) gene mutation. To date, the human genome mutation database has documented over 100 variants of the ASS1 gene.
Hao Hu, Zhang Jinze, Xia Gu
exaly +4 more sources
Prenatal diagnosis of citrullinemia type 1; seven families with c.1168G > A mutation of Argininosuccinate synthetase 1 gene in Southwest Iran: A case series [PDF]
International Journal of Reproductive BioMedicine, 2022 Background: Citrullinemia type 1 is an autosomal recessive disease resulting in ammonia accumulation in the blood, and if uncontrolled may progress to coma or death in the early months after birth.
Maryam Hassanlou +2 more
doaj +2 more sources
Epithelial argininosuccinate synthetase is dispensable for intestinal regeneration and tumorigenesis [PDF]
Cell Death and Disease, 2021 The epithelial signaling pathways involved in damage and regeneration, and neoplastic transformation are known to be similar. We noted upregulation of argininosuccinate synthetase (ASS1) in hyperproliferative intestinal epithelium. Since ASS1 leads to de
Jonathan H. M. van der Meer +16 more
doaj +2 more sources
Citrullinemia type I in Chinese children: Identification of two novel argininosuccinate synthetase gene mutations [PDF]
Frontiers in Pediatrics, 2022 BackgroundIn this study, we evaluated the clinical characteristics, prognosis, and gene mutations of five children with citrullinemia type I (CTLN1) diagnosed in our department and identified two novel ASS1 gene mutations.MethodsWe examined the clinical ...
Mei Xiong, Mingwu Chen
doaj +2 more sources
Metabolomics and proteomics reveal blocking argininosuccinate synthetase 1 alleviates colitis in mice [PDF]
Nature CommunicationsTo date, treating ulcerative colitis (UC) remains a significant challenge due to its complex etiology. In this study, metabolomics and proteomics analysis for multi-center cohorts reveal that both serum arginine levels and the rate-limiting enzyme ...
Shijia Liu +26 more
doaj +2 more sources
Synergistic effects of L-arginine and argininosuccinate synthetase 1 in inducing apoptosis in hepatocellular carcinoma [PDF]
Journal of Liver CancerBackgrounds/Aims Hepatocellular carcinoma (HCC) is a malignant cancer with an increasing incidence worldwide. Although numerous efforts have been made to identify effective therapies for HCC, current strategies have limitations. We present a new approach
Jin Sun Kim +6 more
doaj +2 more sources
Cytosolic Delivery of Argininosuccinate Synthetase Using a Cell-Permeant Miniature Protein [PDF]
ACS Central Science, 2021 Susan L. Knox +3 more
doaj +2 more sources
Reduced expression of argininosuccinate synthetase 1 has a negative prognostic impact in patients with pancreatic ductal adenocarcinoma. [PDF]
PLoS ONE, 2017 Argininosuccinate synthetase 1 (ASS1), the rate-limiting enzyme for arginine biosynthesis, is expressed in many types of human malignancies. Recent studies showed that ASS1 may have tumor suppressor function and that ASS1 deficiency is associated with ...
Qingqing Liu +12 more
doaj +2 more sources
Health Outcomes of Patients with Distal Urea Cycle Disorders Detected by Newborn Screening: Data from the Spanish National Registry [PDF]
International Journal of Neonatal ScreeningUrea cycle disorders (UCDs) are rare inherited metabolic diseases associated with toxic hyperammonemia, leading to severe neurological damage and early mortality.
Raquel Yahyaoui +25 more
doaj +2 more sources
Antitumor role of L-arginine and argininosuccinate synthetase 1 in hepatocellular carcinoma: direct and immunological mechanisms [PDF]
Journal of Liver CancerHyuk Soo Eun
doaj +2 more sources