Disease on EC 2.7.1.113 - deoxyguanosine kinase
Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
Adenocarcinoma of Lung
Mitochondrial Deoxyguanosine Kinase Regulates NAD+ Biogenesis Independent of Mitochondria Complex I Activity.
Adenocarcinoma of Lung
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.
Brain Diseases
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.
deoxyguanosine kinase deficiency
Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.
deoxyguanosine kinase deficiency
Acute liver failure due to DGUOK deficiency-is liver transplantation justified?
deoxyguanosine kinase deficiency
Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.
deoxyguanosine kinase deficiency
Coordinated pyruvate kinase activity is crucial for metabolic adaptation and cell survival during mitochondrial dysfunction.
deoxyguanosine kinase deficiency
Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.
deoxyguanosine kinase deficiency
Deoxyguanosine kinase deficiency: a report of four patients.
deoxyguanosine kinase deficiency
Depletion of mitochondrial DNA by down-regulation of deoxyguanosine kinase expression in non-proliferating HeLa cells.
deoxyguanosine kinase deficiency
Hyperinsulinaemic hypoglycaemia in deoxyguanosine kinase deficiency.
deoxyguanosine kinase deficiency
In vitro supplementation with dAMP/dGMP leads to partial restoration of mtDNA levels in mitochondrial depletion syndromes.
deoxyguanosine kinase deficiency
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single-center experience and a review of the literature.
deoxyguanosine kinase deficiency
Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency.
deoxyguanosine kinase deficiency
Neonatal liver failure due to deoxyguanosine kinase deficiency.
deoxyguanosine kinase deficiency
Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?
deoxyguanosine kinase 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.
deoxyguanosine kinase deficiency
Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.
deoxyguanosine kinase deficiency
Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension.
deoxyguanosine kinase deficiency
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series.
deoxyguanosine kinase deficiency
Severe mtDNA depletion and dependency on catabolic lipid metabolism in DGUOK knockout mice.
deoxyguanosine kinase deficiency
Targeted Next-Generation Sequencing in Diagnostic Approach to Monogenic Cholestatic Liver Disorders-Single-Center Experience.
deoxyguanosine kinase deficiency
The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.
deoxyguanosine kinase deficiency
The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats.
deoxyguanosine kinase deficiency
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
Real-time quantitative PCR assays for deoxycytidine kinase, deoxyguanosine kinase and 5'-nucleotidase mRNA measurement in cell lines and in patients with leukemia.
Hemochromatosis
The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.
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.
Hypertension, Portal
Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension.
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.
Iron Overload
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.
Leukemia
Real-time quantitative PCR assays for deoxycytidine kinase, deoxyguanosine kinase and 5'-nucleotidase mRNA measurement in cell lines and in patients with leukemia.
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.
Leukemia, Lymphocytic, Chronic, B-Cell
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.
Leukemia, Lymphocytic, Chronic, B-Cell
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.
Liver Diseases
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.
Liver Failure
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
Liver Failure
Acute liver failure due to DGUOK deficiency-is liver transplantation justified?
Liver Failure
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Liver Failure
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Liver Failure
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
Liver Failure
Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
Liver Failure
Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?
Liver Failure
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.
Liver Failure
Recurrent Recessive Mutation in DGUOK Causes Idiopathic Non-Cirrhotic Portal Hypertension.
Liver Failure
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?
Liver Failure, Acute
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.
Lung Neoplasms
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.
Mitochondrial Diseases
Pediatric liver transplantation from a living donor in mitochondrial disease: Good outcomes in DGUOK deficiency?
Mitochondrial Diseases
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.
Mitochondrial Diseases
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".
Mitochondrial Myopathies
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
Mitochondrial Myopathies
Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy.
Mitochondrial Myopathies
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
Mitochondrial Myopathies
Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.
Mitochondrial Myopathies
Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
Muscle Hypotonia
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
Muscle Hypotonia
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Muscle Hypotonia
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
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.
Muscular Diseases
Depletion of the other genome-mitochondrial DNA depletion syndromes in humans.
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.
Neoplasms
Enhanced cytotoxicity of nucleoside analogs by overexpression of mitochondrial deoxyguanosine kinase in cancer cell lines.
Neoplasms
Purification of deoxycytidine kinases from two P815 murine neoplasms and their separation from deoxyguanosine kinase.
Neoplasms
The mitochondrial deoxyguanosine kinase is required for cancer cell stemness in lung adenocarcinoma.
Neurologic Manifestations
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.
Ophthalmoplegia, Chronic Progressive External
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions.
Ophthalmoplegia, Chronic Progressive External
DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
Ophthalmoplegia, Chronic Progressive External
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging.
Ophthalmoplegia, Chronic Progressive External
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.
Parkinsonian Disorders
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.
html completed