Strategies to rescue the consequences of inducible arginase-1 deficiency in mice. [PDF]
PLoS ONE, 2015 Arginase-1 catalyzes the conversion of arginine to ornithine and urea, which is the final step of the urea cycle used to remove excess ammonia from the body.
Laurel L Ballantyne +9 more
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Arginase-1 deficiency regulates arginine concentrations and NOS2-mediated NO production during endotoxemia. [PDF]
PLoS ONE, 2014 Arginase-1 is an important component of the intricate mechanism regulating arginine availability during immune responses and nitric oxide synthase (NOS) activity.
Karolina A P Wijnands +12 more
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Inducible arginase 1 deficiency in mice leads to hyperargininemia and altered amino acid metabolism. [PDF]
PLoS ONE, 2013 Arginase deficiency is a rare autosomal recessive disorder resulting from a loss of the liver arginase isoform, arginase 1 (ARG1), which is the final step in the urea cycle for detoxifying ammonia. ARG1 deficiency leads to hyperargininemia, characterized
Yuan Yan Sin +6 more
doaj +2 more sources
Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity.
Ann Indian Acad Neurol, 2016 Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures.
Maramattom BV, Raja R, Balagopal A.
europepmc +3 more sources
A Case with Autism Spectrum Disorder and Concomitant Arginase Deficiency [PDF]
Journal of Behçet Uz Children's HospitalAutism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by lack of social interaction, limited areas of interest, and repetitive behaviors.
Rabia Eren +4 more
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Proof-of-Concept Gene Editing for the Murine Model of Inducible Arginase-1 Deficiency [PDF]
Scientific Reports, 2017 Arginase-1 deficiency in humans is a rare genetic disorder of metabolism resulting from a loss of arginase-1, leading to impaired ureagenesis, hyperargininemia and neurological deficits. Previously, we generated a tamoxifen-inducible arginase-1 deficient
Yuan Yan Sin +3 more
doaj +2 more sources
Rat liver arginase system under acetaminophen-induced toxic injury and protein deprivation [PDF]
The Ukrainian Biochemical Journal, 2017 Arginase activity and L-arginine content in both cytosolic and mitochondrial fractions of rat liver cells under the conditions of toxic injury on the background of protein deprivation was studied.
H. P. Kopylchuk +2 more
doaj +3 more sources
Arginase-II Deficiency Extends Lifespan in Mice [PDF]
Frontiers in Physiology, 2017 The mitochondrial arginase type II (Arg-II) has been shown to interact with ribosomal protein S6 kinase 1 (S6K1) and mitochondrial p66Shc and to promote cell senescence, apoptosis and inflammation under pathological conditions. However, the impact of Arg-II on organismal lifespan is not known.
Yuyan Xiong +7 more
openaire +6 more sources
Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report. [PDF]
SAGE Open Med Case Rep, 2023 Arginase deficiency is a progressive neurological disorder characterized by episodic hyperammonemia crises. Our patient had been diagnosed with cerebral palsy (spastic paraplegia) in childhood and received rehabilitation.
Kuyama N +5 more
europepmc +2 more sources
ACMG/AMP variant classification framework in arginase 1 deficiency: Implications for birth prevalence estimates and diagnostics [PDF]
Genetics in Medicine OpenPurpose: Arginase 1 (ARG1) deficiency manifests with hyperargininemia and progressive neurological impairment. Recent estimates of birth prevalence using allele frequencies of ARG1 variants do not sufficiently distinguish benign from pathogenic variants.
Jessie M. Cameron +4 more
doaj +2 more sources