GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.
about
Purification and cloning of the GTP cyclohydrolase I feedback regulatory protein, GFRPPurification of GTP cyclohydrolase I from human liver and production of specific monoclonal antibodiesCrystal structure of the stimulatory complex of GTP cyclohydrolase I and its feedback regulatory protein GFRP.Three-dimensional structure of 6-pyruvoyl tetrahydropterin synthase, an enzyme involved in tetrahydrobiopterin biosynthesis7-substituted pterins in humans with suspected pterin-4a-carbinolamine dehydratase deficiency. Mechanism of formation via non-enzymatic transformation from 6-substituted pterinsImmunological evidence for the requirement of sepiapterin reductase for tetrahydrobiopterin biosynthesis in brainStructural basis of biopterin-induced inhibition of GTP cyclohydrolase I by GFRP, its feedback regulatory proteinRegulation of GTP cyclohydrolase I and dihydropteridine reductase in rat pheochromocytoma PC 12 cellsBiosynthesis of tetrahydrobiopterin. Purification and characterization of 6-pyruvoyl-tetrahydropterin synthase from human liverPRPS1 mutations: four distinct syndromes and potential treatment.The N-terminal peptide of mammalian GTP cyclohydrolase I is an autoinhibitory control element and contributes to binding the allosteric regulatory protein GFRP.Pterin chemistry and its relationship to the molybdenum cofactor.Mutation spectrum of six genes in Chinese phenylketonuria patients obtained through next-generation sequencing.The role of neopterin as a monitor of cellular immune activation in transplantation, inflammatory, infectious, and malignant diseases.LC-MS/MS Analysis of Cerebrospinal Fluid Metabolites in the Pterin Biosynthetic Pathway.Conversion of 6-substituted tetrahydropterins to 7-isomers via phenylalanine hydroxylase-generated intermediates.α-Synuclein and mitochondrial bioenergetics regulate tetrahydrobiopterin levels in a human dopaminergic model of Parkinson disease.Phenylketonuria: 50 years since Følling's discovery and still expanding our clinical and biochemical knowledge.Identification of abundant mRNAs from the third stage larvae of the parasitic nematode, ostertagia ostertagi.Tetrahydrobiopterin biosynthesis. Studies with specifically labeled (2H)NAD(P)H and 2H2O and of the enzymes involved.Attempt at treatment with tetrahydrobiopterin in combined deficiency of xanthine oxidase and sulphite oxidase.Rat striatal synaptosomes as a model system for studying the inhibition of dihydropteridine reductase activity.High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia.Aromatic L-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a second family.
P2860
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P2860
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.
description
1984 nî lūn-bûn
@nan
1984年の論文
@ja
1984年論文
@yue
1984年論文
@zh-hant
1984年論文
@zh-hk
1984年論文
@zh-mo
1984年論文
@zh-tw
1984年论文
@wuu
1984年论文
@zh
1984年论文
@zh-cn
name
GTP cyclohydrolase I deficienc ...... encies and muscular hypotonia.
@en
GTP cyclohydrolase I deficienc ...... encies and muscular hypotonia.
@nl
type
label
GTP cyclohydrolase I deficienc ...... encies and muscular hypotonia.
@en
GTP cyclohydrolase I deficienc ...... encies and muscular hypotonia.
@nl
prefLabel
GTP cyclohydrolase I deficienc ...... encies and muscular hypotonia.
@en
GTP cyclohydrolase I deficienc ...... encies and muscular hypotonia.
@nl
P2093
P356
P1476
GTP cyclohydrolase I deficienc ...... iencies and muscular hypotonia
@en
P2093
A Niederwieser
J Cardesa-Garcia
P2888
P304
P356
10.1007/BF00572762
P50
P577
1984-02-01T00:00:00Z