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Disease on EC 2.2.1.2 - transaldolase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acatalasia
Relationship between posttranslational modification of transaldolase and catalase deficiency in UV-sensitive repair-deficient xeroderma pigmentosum fibroblasts and SV40-transformed human cells.
Alopecia
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Anemia
Clinical and molecular characteristics of two transaldolase-deficient patients.
Transaldolase deficiency in two new patients with a relative mild phenotype.
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
Anemia, Hemolytic
[A newly discovered metabolic diseases due to defects in the pentose pathway].
arylsulfatase (type i) deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
aspartate-ammonia ligase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Autoimmune Diseases
High Transaldolase 1 expression predicts poor survival of patients with upper tract urothelial carcinoma.
Breast Neoplasms
SLC1A5 co-expression with TALDO1 associates with endocrine therapy failure in estrogen receptor-positive breast cancer.
Carcinogenesis
Oxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolase.
Carcinoma
Genetic variation in Transaldolase 1 and risk of squamous cell carcinoma of the head and neck.
High Transaldolase 1 expression predicts poor survival of patients with upper tract urothelial carcinoma.
Carcinoma, Hepatocellular
Behavior of transaldolase (EC 2.2.1.2) and transketolase (EC 2.2.1.1) Activities in normal, neoplastic, differentiating, and regenerating liver.
Identification of transaldolase as a novel serum biomarker for hepatocellular carcinoma metastasis using xenografted mouse model and clinic samples.
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels.
Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency.
Ribose-5-Phosphate Isomerase A Overexpression Promotes Liver Cancer Development in Transgenic Zebrafish via Activation of ERK and ?-catenin Pathways.
Specific differences in gene expression profile revealed by cDNA microarray analysis of glutathione S-transferase placental form (GST-P) immunohistochemically positive rat liver foci and surrounding tissue.
Carcinoma, Squamous Cell
Genetic variation in Transaldolase 1 and risk of squamous cell carcinoma of the head and neck.
Cardiomyopathies
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.
catalase deficiency
Relationship between posttranslational modification of transaldolase and catalase deficiency in UV-sensitive repair-deficient xeroderma pigmentosum fibroblasts and SV40-transformed human cells.
Cataract
Changes in glutathione, glutathione-linked enzymes and hexose monophosphate shunt enzymes in senile cataract.
Congenital Disorders of Glycosylation
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
Cutis Laxa
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels.
Pulmonary Manifestations in a Patient with Transaldolase Deficiency.
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Cysts
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
Dehydration
Sweet siblings with different faces: the mechanisms of FBP and F6P aldolase, transaldolase, transketolase and phosphoketolase revisited in light of recent structural data.
Demyelinating Diseases
Cleavage of transaldolase by granzyme B causes the loss of enzymatic activity with retention of antigenicity for multiple sclerosis patients.
Diabetes Mellitus, Type 2
Additional Evidence That Transaldolase Exchange, Isotope Discrimination during the Triose-Isomerase Reaction or Both Occurs in Humans: Effects of Type 2 Diabetes.
Effects of transaldolase exchange on estimates of gluconeogenesis in type 2 diabetes.
Diabetic Nephropathies
Genetic variability in enzymes of metabolic pathways conferring protection against non-enzymatic glycation versus diabetes-related morbidity and mortality.
Role of thiamine status and genetic variability in transketolase and other pentose phosphate cycle enzymes in the progression of diabetic nephropathy.
Fatty Liver
Oxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolase.
Glioma
Inhibition of IRE1 modifies hypoxic regulation of G6PD, GPI, TKT, TALDO1, PGLS and RPIA genes expression in U87 glioma cells.
glutamate-5-semialdehyde dehydrogenase deficiency
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Glycogen Storage Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Glycogen Storage Disease Type I
[Transketolase and transaldolase in the liver in Gierke's disease.]
Heart Defects, Congenital
Pulmonary Manifestations in a Patient with Transaldolase Deficiency.
Hepatopulmonary Syndrome
Pulmonary Manifestations in a Patient with Transaldolase Deficiency.
Herpes Simplex
Human transaldolase and cross-reactive viral epitopes identified by autoantibodies of multiple sclerosis patients.
Hydrops Fetalis
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
Hyperglycinemia, Nonketotic
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Hyperthyroidism
[Increase of transaldolase in the hyperthyroid rat liver]
Hypogonadism
Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.
Hypophosphatasia
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Infections
Comparative proteome analysis of splenic lymphocytes in senescence-accelerated mice.
Efficacy of Bivalent Inactivated Vaccine Containing Insect Cell-Expressed Avian Influenza H5 and Egg-Based Newcastle Disease Virus (NDV) Against Dual Infection with Highly Pathogenic H5N1 and Velogenic NDV in Chickens.
Genetic organization of the psbAD region in phages infecting marine Synechococcus strains.
Organ-specific small non-coding RNA responses in domestic (Sudani) ducks experimentally infected with highly pathogenic avian influenza virus (H5N1).
The incidence and aetiology of respiratory tract infections in general practice--with emphasis on Mycoplasma pneumoniae.
Transgenic Chicks Expressing Interferon-Inducible Transmembrane Protein 1 (IFITM1) Restrict Highly Pathogenic H5N1 Influenza Viruses.
Infertility, Male
Oxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolase.
Influenza in Birds
Co-circulation of paramyxo- and influenza viruses in pigeons in Egypt.
Different counteracting host immune responses to clade 2.2.1.1 and 2.2.1.2 Egyptian H5N1 highly pathogenic avian influenza viruses in naïve and vaccinated chickens.
Efficacy of Bivalent Inactivated Vaccine Containing Insect Cell-Expressed Avian Influenza H5 and Egg-Based Newcastle Disease Virus (NDV) Against Dual Infection with Highly Pathogenic H5N1 and Velogenic NDV in Chickens.
Heterologous post-infection immunity against Egyptian avian influenza virus (AIV) H9N2 modulates the course of subsequent infection by highly pathogenic AIV H5N1, but vaccination immunity does not.
Pathogenicity of the Egyptian A/H5N1 avian influenza viruses in chickens.
Respiratory disease due to mixed viral infections in poultry flocks in Egypt between 2017 and 2018: Upsurge of highly pathogenic avian influenza virus subtype H5N8 since 2018.
Transgenic Chicks Expressing Interferon-Inducible Transmembrane Protein 1 (IFITM1) Restrict Highly Pathogenic H5N1 Influenza Viruses.
Influenza, Human
Emergence of a novel cluster of influenza A(H5N1) virus clade 2.2.1.2 with putative human health impact in Egypt, 2014/15.
Evaluation of Protective Efficacy of Influenza Virus Like Particles Prepared from H5N1 Virus of Clade 2.2.1.2 in Chickens.
Kidney Failure, Chronic
Nephrological abnormalities in patients with transaldolase deficiency.
Liver Cirrhosis
Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.
Liver Diseases
Nephrological abnormalities in patients with transaldolase deficiency.
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
Liver Failure
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.
Clinical and molecular characteristics of two transaldolase-deficient patients.
Clinical presentations of patients with polyol abnormalities.
Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.
Prevention of hepatocarcinogenesis and increased susceptibility to acetaminophen-induced liver failure in transaldolase-deficient mice by N-acetylcysteine.
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure.
Lupus Erythematosus, Systemic
Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.
Lysosomal Storage Diseases
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
Megalencephaly
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Meningitis
A lysine-cysteine redox switch with an NOS bridge regulates enzyme function.
Menkes Kinky Hair Syndrome
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Metabolic Diseases
Clinical and molecular characteristics of two transaldolase-deficient patients.
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
Metabolism, Inborn Errors
Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Multiple Sclerosis
CD8+ T cell-mediated HLA-A*0201-restricted cytotoxicity to transaldolase peptide 168-176 in patients with multiple sclerosis.
Cleavage of transaldolase by granzyme B causes the loss of enzymatic activity with retention of antigenicity for multiple sclerosis patients.
Comparative analysis of antibody and cell-mediated autoimmunity to transaldolase and myelin basic protein in patients with multiple sclerosis.
Evaluation of autoimmunity to transaldolase in multiple sclerosis.
Human transaldolase and cross-reactive viral epitopes identified by autoantibodies of multiple sclerosis patients.
Oligodendrocyte-specific expression and autoantigenicity of transaldolase in multiple sclerosis.
The three-dimensional structure of human transaldolase.
Neoplasm Metastasis
High Transaldolase 1 expression predicts poor survival of patients with upper tract urothelial carcinoma.
Identification of transaldolase as a novel serum biomarker for hepatocellular carcinoma metastasis using xenografted mouse model and clinic samples.
Neoplasms
Behavior of transaldolase (EC 2.2.1.2) and transketolase (EC 2.2.1.1) Activities in normal, neoplastic, differentiating, and regenerating liver.
Breast Cancer-Derived Microvesicles Are the Source of Functional Metabolic Enzymes as Potential Targets for Cancer Therapy.
High Transaldolase 1 expression predicts poor survival of patients with upper tract urothelial carcinoma.
Identification of known and novel genes in activated monocytes from patients with rheumatoid arthritis.
Oxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolase.
Synthetic lethality between HER2 and transaldolase in intrinsically resistant HER2-positive breast cancers.
Neuroinflammatory Diseases
Increased Levels of Extracellular Microvesicle Markers and Decreased Levels of Endocytic/Exocytic Proteins in the Alzheimer's Disease Brain.
Pancytopenia
Pulmonary Manifestations in a Patient with Transaldolase Deficiency.
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
Parkinson Disease
Network Analysis Identifies Disease-Specific Pathways for Parkinson's Disease.
Peroxisomal Disorders
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
Proteinuria
Nephrological abnormalities in patients with transaldolase deficiency.
pyruvate carboxylase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Pyruvate Carboxylase Deficiency Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
pyruvate dehydrogenase (nadp+) deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Pyruvate Dehydrogenase Complex Deficiency Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Respiratory Tract Infections
The incidence and aetiology of respiratory tract infections in general practice--with emphasis on Mycoplasma pneumoniae.
ribose-5-phosphate isomerase deficiency
Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism.
Scoliosis
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Skin Neoplasms
Relationship between posttranslational modification of transaldolase and catalase deficiency in UV-sensitive repair-deficient xeroderma pigmentosum fibroblasts and SV40-transformed human cells.
Smith-Lemli-Opitz Syndrome
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
Spinal Cord Injuries
Identification of potential oxidative stress biomarkers for spinal cord injury in erythrocytes using mass spectrometry.
Starvation
Behavior of transaldolase (EC 2.2.1.2) and transketolase (EC 2.2.1.1) Activities in normal, neoplastic, differentiating, and regenerating liver.
Effect of tumor necrosis factor on enzymes of gluconeogenesis in the rat.
Nucleotide degradation and ribose salvage in yeast.
Syndactyly
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
Thrombocytopenia
Clinical and molecular characteristics of two transaldolase-deficient patients.
Phosphoprotein DIGE profiles reflect blast differentiation, cytogenetic risk stratification, FLT3/NPM1 mutations and therapy response in acute myeloid leukaemia.
Transaldolase deficiency in two new patients with a relative mild phenotype.
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
transaldolase deficiency
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.
Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism.
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency.
Clinical and molecular characteristics of two transaldolase-deficient patients.
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients.
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine.
Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.
Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels.
Nephrological abnormalities in patients with transaldolase deficiency.
Novel Association of Early Onset Hepatocellular Carcinoma with Transaldolase Deficiency.
Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.
Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency.
Pulmonary Manifestations in a Patient with Transaldolase Deficiency.
Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis.
Study of transaldolase deficiency in urine samples by capillary LC-MS/MS.
Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.
The pathogenesis of transaldolase deficiency.
Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.
Transaldolase deficiency in a two-year-old boy with cirrhosis.
Transaldolase deficiency in two new patients with a relative mild phenotype.
Transaldolase deficiency influences the pentose phosphate pathway, mitochondrial homoeostasis and apoptosis signal processing.
Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.
Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.
Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.
Transaldolase: from biochemistry to human disease.
Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Urinary excretion of pentose phosphate pathway-associated polyols in early postnatal life.
[A newly discovered metabolic diseases due to defects in the pentose pathway].
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process].
transketolase deficiency
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Uterine Hemorrhage
[Medical termination of pregnancy at 9-14 weeks gestation. Prospective study of 105 cases in Saint-Laurent-du-Maroni (French Guyana)]
Virus Diseases
PA Mutations Inherited during Viral Evolution Act Cooperatively To Increase Replication of Contemporary H5N1 Influenza Virus with an Expanded Host Range.
Xeroderma Pigmentosum
Relationship between posttranslational modification of transaldolase and catalase deficiency in UV-sensitive repair-deficient xeroderma pigmentosum fibroblasts and SV40-transformed human cells.
Zellweger Syndrome
[Prenatal symptoms and diagnosis of inherited metabolic diseases].