Results 1 to 10 of about 110,455,116 (191)

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, Maryam Abiri, Sirous Zeinali   +2 more
doaj   +6 more sources

Metabolomics and proteomics reveal blocking argininosuccinate synthetase 1 alleviates colitis in mice [PDF]

Nature Communications
To 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, Haijian Sun, Zijing Du, Shuai Lu, Chenwen Wang, Ye Zhang, Zichen Luo, Lu Wang, Zhimin Fan, Peng Wei, Yujiao Yan, Junzhi Zhang, Shusheng Yin, Tongtong Liu, Qiongzi He, Xi Guo, Kang Ding, Jingjie Zhou, Haibing Hua, Chengli Yu, Weichen Xu, Jinjun Shan, Yongming Li, Yi Xu, Xiaotao Shen, Gang Cao, Wei Zhou   +26 more
doaj   +5 more sources

Synergistic effects of L-arginine and argininosuccinate synthetase 1 in inducing apoptosis in hepatocellular carcinoma [PDF]

Journal of Liver Cancer
Backgrounds/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, Won-Mook Choi, Ha-Il Kim, Sung Won Chung, Jonggi Choi, Danbi Lee, Kang Mo Kim   +6 more
doaj   +6 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, John Stewart, Hua Wang, Asif Rashid, Jun Zhao, Matthew H Katz, Jeffrey E Lee, Jason B Fleming, Anirban Maitra, Robert A Wolff, Gauri R Varadhachary, Sunil Krishnan, Huamin Wang   +12 more
doaj   +5 more sources

Expansion Phase 1 Study of Pegargiminase Plus Pemetrexed and Cisplatin in Patients With Argininosuccinate Synthetase 1–Deficient Mesothelioma: Safety, Efficacy, and Resistance Mechanisms [PDF]

JTO Clinical and Research Reports, 2020
Introduction: Pegargiminase (ADI-PEG 20; ADI) degrades arginine and potentiates pemetrexed (Pem) cytotoxicity in argininosuccinate synthetase 1 (ASS1)–deficient malignant pleural mesothelioma (MPM).
Peter W. Szlosarek, MD, PhD, Melissa M. Phillips, MD, PhD, Iuliia Pavlyk, PhD, Jeremy Steele, MD, Jonathan Shamash, MD, James Spicer, MD, PhD, Sanjeev Kumar, MD, Simon Pacey, MD, PhD, Xiaoxing Feng, PhD, Amanda Johnston, PhD, John Bomalaski, MD, Graeme Moir, MD, Kelvin Lau, MD, Stephen Ellis, MD, Michael Sheaff, MD   +14 more
doaj   +6 more sources

Role of 3'-Deoxy-3'-[18F] Fluorothymidine Positron Emission Tomography-Computed Tomography as a Predictive Biomarker in Argininosuccinate Synthetase 1-Deficient Thoracic Cancers Treated With Pegargiminase [PDF]

JTO Clinical and Research Reports, 2022
Introduction: Pegargiminase (ADI-PEG 20I) degrades arginine in patients with argininosuccinate synthetase 1-deficient malignant pleural mesothelioma (MPM) and NSCLC.
Teresa A. Szyszko, MD, FRCR, Joel T. Dunn, PhD, Melissa M. Phillips, MD, PhD, John Bomalaski, MD, Michael T. Sheaff, MD, Steve Ellis, MD, Lucy Pike, PhD, Vicky Goh, MD, FRCR, Gary J.R. Cook, MD, FRCR, Peter W. Szlosarek, MD, PhD, FRCP   +9 more
doaj   +5 more sources

Antitumor role of L-arginine and argininosuccinate synthetase 1 in hepatocellular carcinoma: direct and immunological mechanisms [PDF]

Journal of Liver Cancer
Hyuk Soo Eun
doaj   +4 more sources

Functional profiling of 2,193 ASS1 missense variants: Insights into variant pathogenicity and epistatic interactions in citrullinemia type I. [PDF]

PLoS Genetics
Sequence variants in the urea cycle gene argininosuccinate synthase (ASS1) cause Citrullinemia type 1 (CTLN1), a rare autosomal recessive disease. Mechanistically, reduction in argininosuccinate synthetase (ASS) enzyme activity impairs the urea cycle ...
Russell S Lo, Gareth A Cromie, Michelle Tang, Amy Sirr, Ljubica Caldovic, Hiroki Morizono, Nicholas Ah Mew, Andrea Gropman, Aimée M Dudley   +8 more
doaj   +2 more sources

Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1 [PDF]

Italian Journal of Pediatrics
Background The arginine methyltransferase 7 (PRMT7) gene plays a role in signal transduction and protein interactions and negatively regulates neuronal differentiation.
Silvia Boeri, Laura Siri, Marina Martinez Popple, Valeria Capra, Ferruccio Romano, Caterina Fedi, Lino Nobili   +6 more
doaj   +2 more sources

Physical, cognitive, and social status of patients with urea cycle disorders in Japan

Molecular Genetics and Metabolism Reports, 2021
Urea cycle disorders (UCDs) are inherited metabolic diseases that lead to hyperammonemia. Severe hyperammonemia adversely affects the brain. Therefore, we conducted a nationwide study between January 2000 and March 2018 to understand the present status ...
Jun Kido, Shirou Matsumoto, Tetsuya Ito, Shinichi Hirose, Kaori Fukui, Kanako Kojima-Ishii, Yuichi Mushimoto, Shinobu Yoshida, Mika Ishige, Norio Sakai, Kimitoshi Nakamura   +10 more
doaj   +1 more source