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Disease on EC 2.7.1.113 - deoxyguanosine kinase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Adenocarcinoma of Lung
Mitochondrial Deoxyguanosine Kinase Regulates NAD+ Biogenesis Independent of Mitochondria Complex I Activity.
The mitochondrial deoxyguanosine kinase is required for cancer cell stemness in lung adenocarcinoma.
Anemia, Hemolytic, Autoimmune
Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.
Brain Diseases
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
Carcinoma
Suppression of deoxyguanosine cytotoxicity and deoxyguanosine kinase activity in mouse FM3A mammary carcinoma cell: mutants defective in hypoxanthine phosphoribosyl-transferase.
Cardiomyopathies
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Cholestasis
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Cystic Fibrosis
Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.
deoxyguanosine kinase deficiency
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.
Acute liver failure due to DGUOK deficiency-is liver transplantation justified?
Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.
Coordinated pyruvate kinase activity is crucial for metabolic adaptation and cell survival during mitochondrial dysfunction.
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
Deoxyguanosine kinase deficiency: a report of four patients.
Depletion of mitochondrial DNA by down-regulation of deoxyguanosine kinase expression in non-proliferating HeLa cells.
Hyperinsulinaemic hypoglycaemia in deoxyguanosine kinase deficiency.
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single-center experience and a review of the literature.
Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency.
Neonatal liver failure due to deoxyguanosine kinase deficiency.
Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.
Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension.
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
Severe DGUOK Deficiency in Austria: A Six-Patient Series.
Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice.
Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience.
The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.
The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.
Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine.
Diffuse Cerebral Sclerosis of Schilder
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood.
Epilepsy
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Gaucher Disease
Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.
Glycogen Storage Disease
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
Hearing Loss, Sensorineural
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Hematologic Neoplasms
Nucleoside Analog Activity in Malignant Melanoma Cell Lines.
Real-time quantitative PCR assays for deoxycytidine kinase, deoxyguanosine kinase and 5'-nucleotidase mRNA measurement in cell lines and in patients with leukemia.
Hemochromatosis
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.
Hepatitis
Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis.
Hepatitis B
Antiviral guanosine analogs as substrates for deoxyguanosine kinase: implications for chemotherapy.
HIV Infections
Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension.
Hyperaldosteronism
Genetic characterization of a mouse line with primary aldosteronism.
Hypertension, Portal
Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension.
Hypoglycemia
Deoxyguanosine kinase deficiency: a report of four patients.
Infections
Enhancement of deoxyguanosine kinase activity in human lung fibroblast cells infected with human cytomegalovirus.
Iron Overload
A Combined Model of Human iPSC-Derived Liver Organoids and Hepatocytes Reveals Ferroptosis in DGUOK Mutant mtDNA Depletion Syndrome.
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
Leukemia
Comparison of cytotoxicity of 2-chloro- 2'-arabino-fluoro-2'-deoxyadenosine (clofarabine) with cladribine in mononuclear cells from patients with acute myeloid and chronic lymphocytic leukemia.
Real-time quantitative PCR assays for deoxycytidine kinase, deoxyguanosine kinase and 5'-nucleotidase mRNA measurement in cell lines and in patients with leukemia.
Resistance to mitochondrial- and Fas-mediated apoptosis in human leukemic cells with acquired resistance to 9-beta-D-arabinofuranosylguanosine.
Leukemia, Lymphocytic, Chronic, B-Cell
Deoxynucleoside anabolic enzyme levels in acute myelocytic leukemia and chronic lymphocytic leukemia cells.
Expression of the human concentrative nucleotide transporter 1 (hCNT1) gene correlates with clinical response in patients affected by Waldenström's Macroglobulinemia (WM) and small lymphocytic lymphoma (SLL) undergoing a combination treatment with 2-chloro-2'-deoxyadenosine (2-CdA) and Rituximab.
The pattern of deoxycytidine- and deoxyguanosine kinase activity in relation to messenger RNA expression in blood cells from untreated patients with B-cell chronic lymphocytic leukemia.
Leukemia, Myeloid, Acute
Deoxynucleoside anabolic enzyme levels in acute myelocytic leukemia and chronic lymphocytic leukemia cells.
Liver Diseases
Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options.
Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome.
Liver Failure
A Combined Model of Human iPSC-Derived Liver Organoids and Hepatocytes Reveals Ferroptosis in DGUOK Mutant mtDNA Depletion Syndrome.
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
Acute liver failure due to DGUOK deficiency-is liver transplantation justified?
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
Deoxyguanosine kinase deficiency: a report of four patients.
Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
Neonatal liver failure due to deoxyguanosine kinase deficiency.
Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension.
The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.
Liver Failure, Acute
Acute liver failure due to DGUOK deficiency-is liver transplantation justified?
Neonatal liver failure due to deoxyguanosine kinase deficiency.
Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure.
Lung Neoplasms
Mitochondrial Deoxyguanosine Kinase Regulates NAD+ Biogenesis Independent of Mitochondria Complex I Activity.
The mitochondrial deoxyguanosine kinase is required for cancer cell stemness in lung adenocarcinoma.
Mitochondrial Diseases
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?
Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.
Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.
Mitochondrial Myopathies
Comment on "CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions".
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy.
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.
Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
Muscle Hypotonia
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
Deoxyguanosine kinase deficiency: a report of four patients.
Muscular Atrophy, Spinal
New Mutations in TK2 Gene Associated With Mitochondrial DNA Depletion.
Muscular Diseases
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
New Mutations in TK2 Gene Associated With Mitochondrial DNA Depletion.
Neoplasm Metastasis
The mitochondrial deoxyguanosine kinase is required for cancer cell stemness in lung adenocarcinoma.
Neoplasms
DGUOK-AS1 promotes cell proliferation in cervical cancer via acting as a ceRNA of miR-653-5p.
Enhanced cytotoxicity of nucleoside analogs by overexpression of mitochondrial deoxyguanosine kinase in cancer cell lines.
Purification of deoxycytidine kinases from two P815 murine neoplasms and their separation from deoxyguanosine kinase.
The mitochondrial deoxyguanosine kinase is required for cancer cell stemness in lung adenocarcinoma.
Neurologic Manifestations
Deoxyguanosine kinase deficiency: a report of four patients.
Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?
Ophthalmoplegia, Chronic Progressive External
Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders.
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging.
Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
Parkinsonian Disorders
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
purine-nucleoside phosphorylase deficiency
The metabolism of deoxyguanosine and guanosine in human B and T lymphoblasts. A role for deoxyguanosine kinase activity in the selective T-cell defect associated with purine nucleoside phosphorylase deficiency.
pyrimidine-nucleoside phosphorylase deficiency
The metabolism of deoxyguanosine and guanosine in human B and T lymphoblasts. A role for deoxyguanosine kinase activity in the selective T-cell defect associated with purine nucleoside phosphorylase deficiency.
Seizures
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.
thymidine kinase deficiency
Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
Tyrosinemias
The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.
unspecific monooxygenase deficiency
Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience.
Virus Diseases
Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure.
Waldenstrom Macroglobulinemia
Expression of the human concentrative nucleotide transporter 1 (hCNT1) gene correlates with clinical response in patients affected by Waldenström's Macroglobulinemia (WM) and small lymphocytic lymphoma (SLL) undergoing a combination treatment with 2-chloro-2'-deoxyadenosine (2-CdA) and Rituximab.