Results 11 to 20 of about 115,664,573 (187)

Therapeutic targeting of argininosuccinate synthase 1 (ASS1)-deficient pulmonary fibrosis. [PDF]

Mol Ther, 2021
Argininosuccinate synthase 1 (ASS1) serves as a critical enzyme in arginine biosynthesis; however, its role in interstitial lung diseases, particularly idiopathic pulmonary fibrosis (IPF), remains largely unknown.
Li JM, Yang DC, Oldham J, Linderholm A, Zhang J, Liu J, Kenyon NJ, Chen CH.   +7 more
europepmc   +4 more sources

Downregulation of argininosuccinate synthase 1 (ASS1) is associated with hypoxia in placental development

Human Cell, 2023
Argininosuccinate synthase (ASS1) is involved in nitric oxide production, which has a key role in placental development improving pregnancy outcomes.
S. Fantone, L. Ermini, Federica Piani, N. Di Simone, Greta Barbaro, S. Giannubilo, R. Gesuita, G. Tossetta, D. Marzioni   +8 more
semanticscholar   +3 more sources

Sustained Generation of Nitric Oxide and Control of Mycobacterial Infection Requires Argininosuccinate Synthase 1 [PDF]

Cell Host and Microbe, 2012
Nitric oxide (NO) defends against intracellular pathogens but its synthesis must be regulated due to cell and tissue toxicity. During infection, macrophages import extracellular arginine to synthesize NO, generating the byproduct citrulline.
Peter J. Murray, Stefanie N. Vogel, Thomas Decker   +2 more
exaly   +3 more sources

Argininosuccinate Synthase 1 is a Metabolic Regulator of Colorectal Cancer Pathogenicity.

ACS Chemical Biology, 2017
Like many cancer types, colorectal cancers have dysregulated metabolism that promotes their pathogenic features. In this study, we used the activity-based protein profiling chemoproteomic platform to profile cysteine-reactive metabolic enzymes that are ...
L. Bateman, Wan-min Ku, M. Heslin, C. Contreras, C. Skibola, D. Nomura   +5 more
semanticscholar   +3 more sources

Reciprocal Changes of Renal Neuronal Nitric Oxide Synthase-α and -β Associated With Renal Progression in a Neonatal 5/6 Nephrectomized Rat Model

Pediatrics and Neonatology, 2011
Nitric oxide (NO) deficiency contributes to chronic kidney disease progression. NO deficiency could occur for many reasons, one of which is decreased NO synthase (NOS) abundance and/or activity.
You-Lin Tain, Sid Ghosh, Richard J. Krieg, Chris Baylis   +3 more
doaj   +2 more sources

Detection of homozygous genotypes for a putatively lethal recessive mutation in the porcine argininosuccinate synthase 1 (ASS1) gene. [PDF]

Animal Genetics, 2019
The sequencing of the pig genome revealed the existence of homozygous individuals for a nonsense mutation in the argininosuccinate synthase 1 (ASS1) gene (rs81212146, c.944T>A, L315X).
E. Mármol-Sánchez, M. Luigi-Sierra, R. Quintanilla, M. Amills   +3 more
semanticscholar   +2 more sources

Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. [PDF]

JPGN Rep
Abstract Hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome is a rare metabolic condition that can cause lethargy, ataxia, tachypnea, nausea, vomiting, seizures, coma, and acute liver failure. We present a 26‐month‐old female with acute liver failure who was diagnosed with HHH 1 week after admission. Histology revealed an acute hepatitic
Mosher TL, Czepiel KS, Neu MB, Fernandez ACC, Browne LW, Niehaus AD, Gugig R.   +6 more
europepmc   +2 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

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method. [PDF]

J Inherit Metab Dis
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Stolwijk NN, Penninx BMF, Bosch AM, Langeveld M, Salomons GS, Hollak CEM, Essential Nutritional Therapy Products for IMDs Consensus Group.   +6 more
europepmc   +2 more sources

Propionate promotes CD8+ T-cell infiltration and enhances immunotherapy efficacy in colorectal cancer [PDF]

Journal for ImmunoTherapy of Cancer
Background Short-chain fatty acids (SCFAs) produced by the gut microbiota are increasingly recognized as regulators of host immunity, yet the role of individual SCFAs in shaping the tumor immune microenvironment in colorectal cancer (CRC) remains poorly ...
Jun Zhang, Ting Sun, Hang-Ping Yao, Le Tong, Kai Wu, Jingying Pan, Rushan Fei, Jia Ji, Yinuo Zhao, Hanhan Feng, Hanju Hua   +10 more
doaj   +2 more sources