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Disease on EC 1.4.1.27 - glycine cleavage system

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis, Lactic
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
Brain Diseases
Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report.
Brain Diseases, Metabolic
Localized proton MR spectroscopic detection of nonketotic hyperglycinemia in an infant.
Carcinogenesis
Serine biosynthesis with one carbon catabolism and the glycine cleavage system represents a novel pathway for ATP generation.
Cystinosis
Cysteamine inhibition of [15N]-glycine turnover in cystinosis and of glycine cleavage system in vitro.
Dehydration
Gene expression analysis in Eucalyptus globulus exposed to drought stress in a controlled and a field environment indicates different strategies for short- and longer-term acclimation.
Epilepsies, Myoclonic
d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.
Genetic Diseases, Inborn
[Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene].
glycine cleavage system deficiency
A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.
Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension.
[Non-ketotic hyperglycinemia. Transient neonatal form]
Hydrocephalus
Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase-deficient mice.
Hyperglycinemia, Nonketotic
A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemia.
A novel missense mutation in a neonate with nonketotic hyperglycinemia.
A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia.
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia.
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem.
Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.
Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio.
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia.
Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene.
Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.
Crystal structure of T-protein of the glycine cleavage system. Cofactor binding, insights into H-protein recognition, and molecular basis for understanding nonketotic hyperglycinemia.
Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein.
Delivery of a normal baby after preimplantation genetic diagnosis for non-ketotic hyperglycinaemia.
Depletion of cerebral D-serine in non-ketotic hyperglycinemia: possible involvement of glycine cleavage system in control of endogenous D-serine.
Determination of benzoic acid in serum or plasma by gas chromatography-mass spectrometry (GC/MS).
Early myoclonic encephalopathy and nonketotic hyperglycinemia.
Feasibility of prenatal diagnosis of nonketotic hyperglycinemia: existence of the glycine cleavage system in placenta.
Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy.
Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.
Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia.
Localized proton MR spectroscopic detection of nonketotic hyperglycinemia in an infant.
Magnetic resonance spectroscopy study of glycine pathways in nonketotic hyperglycinemia.
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor.
Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH).
Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy.
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans.
Natural history of nonketotic hyperglycinemia in 65 patients.
Non-ketotic hyperglycinemia: an aim of the second generation of studies on pathogenesis.
Nonketotic hyperglycinemia: A life-threatening disorder in Saudi newborns.
Nonketotic hyperglycinemia: analyses of glycine cleavage system in typical and atypical cases.
Nonketotic hyperglycinemia: clinical and metabolic aspects.
Nonketotic hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system.
Novel compound heterozygous LIAS mutations cause glycine encephalopathy.
Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia).
Nystagmus and subnormal electroretinographic response in nonketotic hyperglycinemia.
Prenatal diagnosis of nonketotic hyperglycinemia: enzymatic analysis of the glycine cleavage system in chorionic villi.
Rapid diagnosis of glycine encephalopathy by 13C-glycine breath test.
Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH).
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.
Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia.
Studies of the glycine cleavage enzyme system in brain from infants with glycine encephalopathy.
The effect of hyperglycinemic treatment in captive-bred Vervet monkeys (Chlorocebus aethiops).
Two cases of glycine encephalopathy accompanied by pes equinovarus.
Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia.
Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).
Two Novel Missense Mutations in Nonketotic Hyperglycinemia.
Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report.
Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report.
Valproate-induced chorea and encephalopathy in atypical nonketotic hyperglycinemia.
[Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene].
Infections
Vibrio cholerae ensures function of host proteins required for virulence through consumption of luminal methionine sulfoxide.
Intellectual Disability
Dextromethorphan in nonketotic hyperglycinaemia: metabolic variation confounds the dose-response relationship.
Malaria
Validation of a modified method for Bxb1 mycobacteriophage integrase-mediated recombination in Plasmodium falciparum by localization of the H-protein of the glycine cleavage complex to the mitochondrion.
Meningomyelocele
Genetic association of the glycine cleavage system genes and myelomeningocele.
Metabolic Diseases
Two cases of glycine encephalopathy accompanied by pes equinovarus.
Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia).
Neoplasms
GCSH antisense regulation determines breast cancer cells' viability.
Glycine decarboxylase regulates the maintenance and induction of pluripotency via metabolic control.
In vivo MR studies of glycine and glutathione metabolism in a rat mammary tumor.
SHMT2 drives glioma cell survival in ischaemia but imposes a dependence on glycine clearance.
Neural Tube Defects
Formate and its role in amino acid metabolism.
Mutations in genes encoding the glycine cleavage system predispose to neural tube defects in mice and humans.
Neurologic Manifestations
Cysteamine inhibition of [15N]-glycine turnover in cystinosis and of glycine cleavage system in vitro.
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor.
Obesity
Obesity increases hepatic glycine dehydrogenase and aminomethyltransferase expression while dietary glycine supplementation reduces white adipose tissue in Zucker diabetic fatty rats.
Propionic Acidemia
Glycine cleavage system in ketotic hyperglycinemia: a reduction of H-protein activity.
The impaired expression of glycine decarboxylase in patients with hyperglycinemias.
Scrapie
2-Aminoacrylate Stress Induces a Context-Dependent Glycine Requirement in ridA Strains of Salmonella enterica.
Seizures
Dextromethorphan in nonketotic hyperglycinaemia: metabolic variation confounds the dose-response relationship.
Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report.
Spasm
Use of Perampanel and a Ketogenic Diet in Nonketotic Hyperglycinemia: A Case Report.
Tuberculosis
X-ray structure determination of the glycine cleavage system protein H of Mycobacterium tuberculosis using an inverse Compton synchrotron X-ray source.