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Disease on EC 2.7.6.2 - thiamine diphosphokinase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Anemia
Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C.2.7.6.1) deficiency.
Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency.
[Phosphoribosyl pyrophosphate and its metabolic enzymes in the erythrocytes in certain forms of anemia]
Anemia, Hemolytic
Additional data from two kindreds with genetically induced deficiencies of erythrocyte pyrimidine nucleotidase.
Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later.
Nonspherocytic haemolytic anaemia with increased red cell adenine nucleotides, glutathione and basophilic stippling and ribosephosphate pyrophosphokinase (RPK) deficiency: studies on two new kindreds.
Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C.2.7.6.1) deficiency.
Anemia, Megaloblastic
Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anaemia.
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness.
Avitaminosis
[Enzyme activity of thiamine diphosphate biosynthesis and degradation in the mouse liver in the dynamics of B1 avitaminosis development]
Brain Diseases
Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants.
Carcinoma
Thiamine metabolism in the liver of mice with Ehrlich ascites carcinoma.
Carcinoma, Hepatocellular
Increased 5-phospho-alpha-D-ribose-1-diphosphate synthetase (ribosephosphate pyrophosphokinase, EC 2.7.6.1) activity in rat hepatomas.
Cardiotoxicity
Examination of the effects of thiamine and thiamine pyrophosphate on Doxorubicin-induced experimental cardiotoxicity.
Deafness
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness.
Diabetes Mellitus
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness.
Leigh Disease
Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
Malaria
Sequence variation of the hydroxymethyldihydropterin pyrophosphokinase: dihydropteroate synthase gene in lines of the human malaria parasite, Plasmodium falciparum, with differing resistance to sulfadoxine.
The human malaria parasite Plasmodium falciparum expresses an atypical N-terminally extended pyrophosphokinase with specificity for thiamine.
Microcephaly
Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.
Movement Disorders
Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype.
Neoplasms
Thiamine metabolism in the liver of mice with Ehrlich ascites carcinoma.
[Extracting and study of biochemical properties of thiamine pyrophosphokinase from non-malignant and tumor tissue of myometrium].
Nervous System Diseases
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
Thiamine metabolism is critical for regulating correlated growth of dendrite arbors and neuronal somata.
Neurodegenerative Diseases
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder.
Pneumonia, Pneumocystis
Cloning of the Pneumocystis jirovecii trifunctional FAS gene and complementation of its DHPS activity in Escherichia coli.
Thiamine Deficiency
Brain thiamine, its phosphate esters, and its metabolizing enzymes in Alzheimer's disease.
thiamine diphosphokinase deficiency
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing.
Movement disorders associated with thiamine pyrophosphokinase deficiency: Intrafamilial variability in the phenotype.
Thiamine pyrophosphokinase deficiency causes a Leigh Disease like phenotype in a sibling pair: identification through whole exome sequencing and management strategies.
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder.
Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway.
Thiamine responsive anemia: report of a new case associated with a thiamine pyrophosphokinase deficiency.
[Clinical characteristics and genetic analysis of a Chinese pedigree affected with thiamine pyrophosphokinase deficiency].