Disease on EC 1.1.1.153 - sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming)

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DISEASE
TITLE OF PUBLICATION
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6,7-dihydropteridine reductase deficiency
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency.
Adenocarcinoma
Targeted Proteomics for Multiplexed Verification of Markers of Colorectal Tumorigenesis.
Adenoma
Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors.
Targeted Proteomics for Multiplexed Verification of Markers of Colorectal Tumorigenesis.
Adrenal Cortex Neoplasms
Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors.
Adrenocortical Carcinoma
Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors.
Adrenoleukodystrophy
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
Asthma
Aldose reductase inhibition suppresses airway inflammation.
Aldose reductase inhibition suppresses oxidative stress-induced inflammatory disorders.
Bradycardia
Sepiapterin reductase gene-disrupted mice suffer from hypertension with fluctuation and bradycardia.
Breast Neoplasms
Validation of DNA promoter hypermethylation biomarkers in breast cancer--a short report.
Carcinoma
Tetrahydrobiopterin biosynthetic activities in human macrophages, fibroblasts, THP-1, and T 24 cells. GTP-cyclohydrolase I is stimulated by interferon-gamma, and 6-pyruvoyl tetrahydropterin synthase and sepiapterin reductase are constitutively present.
Carcinoma, Hepatocellular
Gel-based proteomics of liver cancer progression in rat.
Regulation of AKR1B1 by thyroid hormone and its receptors.
Cardiomegaly
Identification of a novel aldose reductase-like gene upregulated in the failing heart of cardiomyopathic hamster.
Cardiovascular Diseases
Genetics of diabetes complications.
Cataract
Aldo-keto reductases in the eye.
Aldose reductase deficiency protects sugar-induced lens opacification in rats.
The enzymatic activities of GTP cyclohydrolase, sepiapterin reductase, dihydropteridine reductase and dihydrofolate reductase; and tetrahydrobiopterin content in mammalian ocular tissues and in human senile cataracts.
Cerebral Palsy
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Colonic Neoplasms
Proteasome inhibitors MG-132 and bortezomib induce AKR1C1, AKR1C3, AKR1B1, and AKR1B10 in human colon cancer cell lines SW-480 and HT-29.
Colorectal Neoplasms
[Downregulation of AKR1B10 gene expression in colorectal cancer]
Diabetes Complications
Aldo-Keto Reductase Family 1 B1 Inhibitors: Old Drugs with New Perspectives.
Aldose reductase C-106T polymorphism is associated with the risk of essential hypertension.
Aldose reductase deficiency protects sugar-induced lens opacification in rats.
Human and rodent aldo-keto reductases from the AKR1B subfamily and their specificity with retinaldehyde.
The aldo-keto reductases (AKRs): Overview.
The Human Aldose Reductase AKR1B1 Qualifies as the Primary Prostaglandin F Synthase in the Endometrium.
Diabetes Mellitus
C-106T polymorphism of AKR1B1 is associated with diabetic nephropathy and erythrocyte aldose reductase content in Japanese subjects with type 2 diabetes mellitus.
Diabetes Mellitus, Type 1
A systematic meta-analysis of genetic association studies for diabetic retinopathy.
Diabetes Mellitus, Type 2
C-106T polymorphism of AKR1B1 is associated with diabetic nephropathy and erythrocyte aldose reductase content in Japanese subjects with type 2 diabetes mellitus.
Diabetic Nephropathies
C-106T polymorphism of AKR1B1 is associated with diabetic nephropathy and erythrocyte aldose reductase content in Japanese subjects with type 2 diabetes mellitus.
Variants in the gene encoding aldose reductase (AKR1B1) and diabetic nephropathy in American Indians.
Diabetic Neuropathies
Chromosomal Aberrations and Exon 1 Mutation in the AKR1B1 Gene in Patients with Diabetic Neuropathy.
The association of aldose reductase gene (AKR1B1) polymorphisms with diabetic neuropathy in adolescents.
Diabetic Retinopathy
A systematic meta-analysis of genetic association studies for diabetic retinopathy.
Disorders of Excessive Somnolence
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.
Dystonia
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
Heterozygous mutation in 5'-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia.
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
Monoamine neurotransmitter deficiencies.
Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia.
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.
Endometrial Neoplasms
Decreased levels of AKR1B1 and AKR1B10 in cancerous endometrium compared to adjacent non-cancerous tissue.
Endometriosis
Expression of AKR1B1, AKR1C3 and other genes of prostaglandin F2? biosynthesis and action in ovarian endometriosis tissue and in model cell lines.
gtp cyclohydrolase i deficiency
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
Disorders of biopterin metabolism.
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Hypercalcemia
Disruption of aldose reductase gene (Akr1b1) causes defect in urinary concentrating ability and divalent cation homeostasis.
Hypertension
Aldose reductase C-106T polymorphism is associated with the risk of essential hypertension.
Endothelium-specific sepiapterin reductase deficiency in DOCA-salt hypertension.
Sepiapterin reductase gene-disrupted mice suffer from hypertension with fluctuation and bradycardia.
Hypothyroidism
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.
Infection
BVDV alters uterine prostaglandin production during pregnancy recognition in cows.
Intellectual Disability
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
Leukemia, Myeloid, Acute
Expression of the Aldo-Ketoreductases AKR1B1 and AKR1B10 in Human Cancers.
Liver Diseases, Alcoholic
Major differences exist in the function and tissue-specific expression of human aflatoxin B1 aldehyde reductase and the principal human aldo-keto reductase AKR1 family members.
Liver Neoplasms
Gel-based proteomics of liver cancer progression in rat.
Regulation of AKR1B1 by thyroid hormone and its receptors.
Lung Neoplasms
Aldo-Keto Reductase Family 1 B1 Inhibitors: Old Drugs with New Perspectives.
methylmalonyl-coa epimerase deficiency
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials.
Movement Disorders
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.
Very early pattern of movement disorders in sepiapterin reductase deficiency.
Multiple Myeloma
Expression of the Aldo-Ketoreductases AKR1B1 and AKR1B10 in Human Cancers.
Muscle Hypotonia
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.
Neoplasm Metastasis
Aldose reductase inhibition suppresses oxidative stress-induced inflammatory disorders.
Neoplasms
Aldo-Keto Reductase Family 1 B1 Inhibitors: Old Drugs with New Perspectives.
Aldose reductase inhibition suppresses airway inflammation.
Aldose reductase inhibition suppresses oxidative stress-induced inflammatory disorders.
Antioxidant effects of N-acetylserotonin: possible mechanisms and clinical implications.
Decreased expression of cyclic adenosine monophosphate-regulated aldose reductase (AKR1B1) is associated with malignancy in human sporadic adrenocortical tumors.
Epigenetics override pro-inflammatory PTGS transcriptomic signature towards selective hyperactivation of PGE2 in colorectal cancer.
Expression of the Aldo-Ketoreductases AKR1B1 and AKR1B10 in Human Cancers.
Expression of the prostaglandin F synthase AKR1B1 and the prostaglandin transporter SLCO2A1 in human fetal membranes in relation to spontaneous term and preterm labor.
Genes for prostaglandin synthesis, transport and inactivation are differentially expressed in human uterine tissues, and the prostaglandin F synthase AKR1B1 is induced in myometrial cells by inflammatory cytokines.
Human and rodent aldo-keto reductases from the AKR1B subfamily and their specificity with retinaldehyde.
Identification of candidate predictive markers of anticancer drug sensitivity using a panel of human cancer cell lines.
Novel Interaction of Ornithine Decarboxylase with Sepiapterin Reductase Regulates Neuroblastoma Cell Proliferation.
Quantitative analysis of the human AKR family members in cancer cell lines using the mTRAQ/MRM approach.
The aldo-keto reductases (AKRs): Overview.
[Downregulation of AKR1B10 gene expression in colorectal cancer]
[Expression of genes involved in retinoic acid biosynthesis in human gastric cancer].
Neuroblastoma
Effect of lipopolysaccharide on the gene expression of the enzymes involved in tetrahydrobiopterin de novo biosynthesis in murine neuroblastoma cell line N1E-115.
Effect of sulfasalazine on human neuroblastoma: analysis of sepiapterin reductase (SPR) as a new therapeutic target.
Novel Interaction of Ornithine Decarboxylase with Sepiapterin Reductase Regulates Neuroblastoma Cell Proliferation.
Obstetric Labor, Premature
Expression of the prostaglandin F synthase AKR1B1 and the prostaglandin transporter SLCO2A1 in human fetal membranes in relation to spontaneous term and preterm labor.
Pain
The Human Aldose Reductase AKR1B1 Qualifies as the Primary Prostaglandin F Synthase in the Endometrium.
Parkinson Disease
Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease.
Sepiapterin reductase expression is increased in Parkinson's disease brain tissue.
The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations.
Parkinsonian Disorders
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
Phenylketonurias
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
Partial biopterin deficiency disturbs postnatal development of the dopaminergic system in the brain.
Tetrahydrobiopterin: biochemistry and pathophysiology.
Renal Insufficiency, Chronic
Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 and PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes.
Sarcoma
[Characteristics of sepiapterin reductase from Tawa and Yoshida sarcomas (author's transl)]
sepiapterin reductase (l-erythro-7,8-dihydrobiopterin forming) deficiency
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia.
Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency.
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.
Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency.
Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.
Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency.
Endothelium-specific sepiapterin reductase deficiency in DOCA-salt hypertension.
Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.
Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.
Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.
Sepiapterin reductase deficiency: Report of 5 new cases.
Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features.
Sleep and rhythm consequences of a genetically induced loss of serotonin.
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
Tetrahydrobiopterin is synthesized from 6-pyruvoyl-tetrahydropterin by the human aldo-keto reductase AKR1 family members.
The silkworm mutant lemon (lemon lethal) is a potential insect model for human sepiapterin reductase deficiency.
Two Greek siblings with sepiapterin reductase deficiency.
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
Very early pattern of movement disorders in sepiapterin reductase deficiency.
What Is Not in the Name? Dopa-Responsive Dystonia May Respond to More Than L-Dopa.
Uterine Diseases
Enzymes of the AKR1B and AKR1C Subfamilies and Uterine Diseases.
Uveitis
Aldose reductase inhibition suppresses oxidative stress-induced inflammatory disorders.