Dihydropteridine reductase deficiency - Wikipedia
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase,...
... sepiapterin reductase (SR), carbinolamine-4a-dehydratase (PCD), or dihydropteridine reductase (DHPR) genes. The spectrum of ... and dihydropteridine reductase.. Beat Thöny, Nenad Blau. Human Mutation 2006 September. Tetrahydrobiopterin (BH(4)) ... Lack of sepiapterin reductase activity, an autosomal recessive variant of BH(4) deficiency presenting without HPA, was ... Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, ...
MedlinePlus: Genes: Q
Thieme E-Journals - Journal of Pediatric Biochemistry / Abstract
... dihydropteridine reductase; (3) GTP cyclohydrolase I; (4) sepiapterin reductase; and (5) pterin-4α-carbinolamine dehydratase. ... 9 Ponzone A, Spada M, Ferraris S, Dianzani I, de Sanctis L. Dihydropteridine reductase deficiency in man: from biology to ... 17 Porta F, Mussa A, Concolino D, Spada M, Ponzone A. Dopamine agonists in dihydropteridine reductase deficiency. Mol Genet ... tetrahydrobiopterin - hyperphenylalaninemia - dihydropteridine reductase - GTP cyclohydrolase I - homovanillic acid - pterin-4 ...
Single-cell transcriptomic analysis of Alzheimer's disease | Nature
metabolic pathway pertinent to the brain - Ontology Report - Rat Genome Database
quinoid dihydropteridine reductase. ISO. RGD. PMID:19342614. RGD:4139904. NCBI chr14:65,670,251...65,683,853 Ensembl chr14: ... quinoid dihydropteridine reductase. ISO. RGD. PMID:19342614. RGD:4139904. NCBI chr14:65,670,251...65,683,853 Ensembl chr14: ... quinoid dihydropteridine reductase. ISO. RGD. PMID:19342614. RGD:4139904. NCBI chr14:65,670,251...65,683,853 Ensembl chr14: ... aldo-keto reductase family 1 member B10. IDA. ISO. RGD. PMID:20709016 PMID:16970545. RGD:6903952, RGD:6903957. NCBI chr 4: ...
BH4 Deficiency (Tetrahydrobiopterin Deficiency): Background, Pathophysiology, Epidemiology
... sepiapterin reductase (SPR), carbinolamine-4a-dehydratase (PCBD), or dihydropteridine reductase (QHPR). [26, 27] ... sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat. 2006 Sep. 27(9):870-8. [QxMD ... sepiapterin reductase (SR), dihydropteridine reductase (DHPR), and pterin-4alpha-carbinolamine dehydratase (PCD). [25] ... Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer. J Inherit ...
KoreaMed
WikiGenes - Neurologic Manifestations
Trexall, Otrexup (methotrexate) dosing, indications, interactions, adverse effects, and more
Feedback on Soma Side Effects and Usage, page 17 - AskDocWeb.com
Phenylketonuria (PKU) - Pediatrics - Merck Manuals Professional Edition
DR Wilfred L. F. Armarego - Researchers - ANU
a) Studies of dihydropteridine reductase (DHPR) from human and other sources. The human enzyme is involved in a malignant form ... Miss A. Ohnishi 1984-1986 (Studies of the Structure of the Active Site of Dihydropteridine Reductase from Homan Brain) ... Zhang 1994-1995 (In vitro Site-Directed Mutagenesis of Human Dihydropteridine Reductase and Enzyme Kinetics of the Expressed ... G. Vesudevan 1985-1988 (Studies on Dihydropteridine Reductase). Mrs Behjat. Kosar-Hashemi 1988-1993 (Studies on Glyceryl-Ether ...
Optometry - Research Outputs
- Aston Research Explorer
RCSB PDB - MES Ligand Summary Page
Dihydropteridine reductase. MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVENEEASA.... unknown. Argininosuccinate lyase. ... Dihydrofolate reductase. MSKPNVAIIVAALKPALGIGYKGKMPWRLRKEIRYFKDVTTRTTKPNTRN.... unknown. Copper-containing nitrite reductase. ... Dissimilatory copper-containing nitrite reductase. MNALRPTLLAAALAFTMAAGTAWAQDADKLPHTKVTLVAPPQVHPHEQAT.... unknown. 33 kDa ... Free methionine-R-sulfoxide reductase. MNKTEFYADLNRDFNALMAGETSFLATLANTSALLYERLTDINWAGFYLL.... unknown. Ornithine cyclodeaminase ...
Spectrum of common and rare small molecule inborn errors of metabolism diagnosed in a tertiary care centre.
Screening Procedures: Variations in Diagnostic Criteria & Followup | NICHD - Eunice Kennedy Shriver National Institute of Child...
... but other causes may include a deficiency of dihydropteridine reductase (DHPR) or reduced production of biopterin (BH 4). ...
HALLMARK MTORC1 SIGNALING
GSE17721 CTRL VS POLYIC 4H BMDC UP
Celia Fern��ndez. Curriculum. Universidad de Navarra
Nitrite reductases. Medical search
Reductase InhibitorsRibonucleoside Diphosphate ReductaseDihydropteridine ReductaseCytochromes c2OxygenQuinone Reductases ... Nitrate reductase (NADH) Nitrate reductase (NADPH) Nitrate reductase (NAD(P)H) Nitrate reductase (quinone) Nitrite reductase ... Nitrite reductase may also refer to: Nitrite reductase (NO-forming) Nitrite reductase (NAD(P)H) Cytochrome c nitrite reductase ... Nitrite reductase (NO-forming). ... reductase, methyl viologen-nitrite reductase, nitrite reductase (cytochrome, and NO-forming ...
Specific PHGKB|Rare Diseases PHGKB|PHGKB
SZGR2
Understanding Phenylketonuria (PKU): Causes, Symptoms, and Management
Olink Target 96 Mouse Exploratory Panel（小鼠探索）
SZGR2
Similarities of Characterized Proteins
DHPR_HUMAN / P09417 Dihydropteridine reductase; HDHPR; Quinoid dihydropteridine reductase; Short chain dehydrogenase/reductase ... DHPR_DICDI / Q86A17 Dihydropteridine reductase; Quinoid dihydropteridine reductase; EC 1.5.1.34 from Dictyostelium discoideum ( ... Q8MJ30 6,7-dihydropteridine reductase (EC 1.5.1.34) from Sus scrofa. 243 amino acids: PaperBLAST, CDD 94% identical to query, ... Q8WTJ2 6,7-dihydropteridine reductase (EC 1.5.1.34) from Physarum polycephalum. 231 amino acids: PaperBLAST, CDD 43% identical ...
Disorders of Amino Acid Metabolism, Organic Acidaemias and Urea Cycle Disorders | Oncohema Key
Dihydropteridine reductase deficiency (DHPR deficiency). 717 (22-3207). L-dopa/carbidopa, 5-hydroxytryptophan, folinic acid. ... A repeat blood sample to recheck phenylalanine and tyrosine measurements, together with blood for dihydropteridine reductase ... dihydropteridine reductase and pterin-4-α-carbinolamine [32] (Fig. 17.8). ...
ExplorEnz: EC 1.14.16.4
7-dihydropteridine reductase, before it slowly rearranges into the more stable but inactive compound 7,8-dihydropteridine.. ... The 6,7-dihydropteridine must be enzymically reduced back to tetrahydropteridine, by EC 1.5.1.34, 6, ... The 4a-hydroxytetrahydropteridine formed can dehydrate to 6,7-dihydropteridine, both spontaneously and by the action of EC 4.2. ...