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Disease on EC 2.1.4.1 - glycine amidinotransferase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acute Kidney Injury
Interrelation of urinary and plasma levels of guanidinoacetic acid with alteration in renal activity of glycine amidinotransferase in acute renal failure rats.
[Activity of glycine amidinotransferase and its isoforms in dog kidney tissue normally and in acute renal insufficiency]
Breast Neoplasms
Creatine-mediated crosstalk between adipocytes and cancer cells regulates obesity-driven breast cancer.
Carcinoma
A short review on creatine-creatine kinase system in relation to cancer and some experimental results on creatine as adjuvant in cancer therapy.
Enzymes of creatine biosynthesis, arginine and methionine metabolism in normal and malignant cells.
Dent Disease
Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology.
Diabetes Mellitus
[Study of impaired metabolism of guanidinoacetic acid in uremia--the compensatory role of the pancreas in guanidinoacetic acid synthesis]
Fanconi Syndrome
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Genetic Diseases, Inborn
LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step.
Glomerulonephritis
[Glycine amidinotransferase activity of the blood and urine of children with acute streptococcal glomerulonephritis]
glycine amidinotransferase deficiency
Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.
Arginine:glycine amidinotransferase deficiency: a treatable metabolic encephalomyopathy.
Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans.
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
Creatine metabolism in urea cycle defects.
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.
Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.
Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency.
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.
LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step.
guanidinoacetate n-methyltransferase deficiency
Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.
Creatine and creatine deficiency syndromes: biochemical and clinical aspects.
Creatine metabolism in urea cycle defects.
Guanidinoacetate and creatine plus creatinine assessment in physiologic fluids: an effective diagnostic tool for the biochemical diagnosis of arginine:glycine amidinotransferase and guanidinoacetate methyltransferase deficiencies.
LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step.
Gyrate Atrophy
Inhibition of arginine-glycine amidinotransferase by ornithine. A possible mechanism for the muscular and chorioretinal atrophies in gyrate atrophy of the choroid and retina with hyperornithinemia.
Ornithine delta-aminotransferase activity in retina and other tissues.
Heart Failure
Myocardial expression of the arginine:glycine amidinotransferase gene is elevated in heart failure and normalized after recovery: potential implications for local creatine synthesis.
Intellectual Disability
Arginine:glycine amidinotransferase (AGAT) deficiency in a newborn: early treatment can prevent phenotypic expression of the disease.
Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree.
Fifteen-year follow-up of Italian families affected by arginine glycine amidinotransferase deficiency.
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
Kidney Failure, Chronic
Impaired metabolism of guanidinoacetic acid in uremia.
Language Disorders
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.
Metabolic Syndrome
Differential regulation of AMPK activation in leptin- and creatine-deficient mice.
L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.
Metabolism, Inborn Errors
Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease?
[Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease]
Muscular Diseases
Creatine deficiency syndrome. A treatable myopathy due to arginine-glycine amidinotransferase (AGAT) deficiency.
Does reduced creatine synthesis protect against statin myopathy?
Muscle phenotype of AGAT- and GAMT-deficient mice after simvastatin exposure.
Statins and skeletal muscles toxicity: from clinical trials to everyday practice.
Muscular Dystrophies
Reduced renal arginine-glycine transamidinase activity in myotonic goats and in patients with myotonic muscular dystrophy.
Myotonic Dystrophy
Arginine-glycine amidinotransferase activity in myotonic dystrophy.
Neoplasm Metastasis
Creatine promotes cancer metastasis through activation of Smad2/3.
Neoplasms
Creatine-mediated crosstalk between adipocytes and cancer cells regulates obesity-driven breast cancer.
Enzymes of creatine biosynthesis, arginine and methionine metabolism in normal and malignant cells.
Nephrosis, Lipoid
[Glycine transamidinase (ADT) activity in the serum and urine of children with lipoid nephrosis]
Pancreatitis
[Repression and depression of glycine amidinotransferase in the rat pancreas at different stages of the development of pancreatitis]
Renal Insufficiency
Genetic mitochondrial glycine amidinotransferase protein aggregate formation triggers microparticle sensing and kidney failure.
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Interrelation of urinary and plasma levels of guanidinoacetic acid with alteration in renal activity of glycine amidinotransferase in acute renal failure rats.
[Study of impaired metabolism of guanidinoacetic acid in uremia--the compensatory role of the pancreas in guanidinoacetic acid synthesis]
Sarcoma
A short review on creatine-creatine kinase system in relation to cancer and some experimental results on creatine as adjuvant in cancer therapy.
Enzymes of creatine biosynthesis, arginine and methionine metabolism in normal and malignant cells.
Sarcoma 180
A short review on creatine-creatine kinase system in relation to cancer and some experimental results on creatine as adjuvant in cancer therapy.
Enzymes of creatine biosynthesis, arginine and methionine metabolism in normal and malignant cells.
Stroke
Homoarginine Levels Are Regulated by L-Arginine:Glycine Amidinotransferase and Affect Stroke Outcome: Results From Human and Murine Studies.
Homoarginine- and Creatine-Dependent Gene Regulation in Murine Brains with l-Arginine:Glycine Amidinotransferase Deficiency.
Tuberous Sclerosis
Proteomes analysis reveals the involvement of autophagy in AD-like neuropathology induced by noise exposure and ApoE4.
Uremia
Impaired metabolism of guanidinoacetic acid in uremia.