Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism
about
Identification of the gene encoding alkylglycerol monooxygenase defines a third class of tetrahydrobiopterin-dependent enzymesTetrahydrobiopterin biosynthesis, regeneration and functionsHyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH).Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthasePhenylketonuria: translating research into novel therapiesThree-dimensional structure of the bifunctional protein PCD/DCoH, a cytoplasmic enzyme interacting with transcription factor HNF1Characterization of the wild-type form of 4a-carbinolamine dehydratase and two naturally occurring mutants associated with hyperphenylalaninemiaDimerization co-factor of hepatocyte nuclear factor 1/pterin-4alpha-carbinolamine dehydratase is necessary for pigmentation in Xenopus and overexpressed in primary human melanoma lesionsEpstein-barr virus-induced changes in B-lymphocyte gene expression.Interactions with the bifunctional interface of the transcriptional coactivator DCoH1 are kinetically regulated.Overexpression of pterin-4a-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 in human colon cancer.Identification of hepatic nuclear factor 1 binding sites in the 5' flanking region of the human phenylalanine hydroxylase gene: implication of a dual function of phenylalanine hydroxylase stimulator in the phenylalanine hydroxylation system.Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.Structure and function of the aromatic amino acid hydroxylases.Differential expression of chicken dimerization cofactor of hepatocyte nuclear factor-1 (DcoH) and its novel counterpart, DcoHalpha.High-resolution structures of the bifunctional enzyme and transcriptional coactivator DCoH and its complex with a product analogue4a-hydroxytetrahydrobiopterin => q-dihydrobiopterin + H2O
P2860
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P2860
Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism
description
1993 nî lūn-bûn
@nan
1993 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
Mutation in the 4a-carbinolami ...... defective cofactor metabolism
@ast
Mutation in the 4a-carbinolami ...... defective cofactor metabolism
@en
Mutation in the 4a-carbinolami ...... defective cofactor metabolism
@nl
type
label
Mutation in the 4a-carbinolami ...... defective cofactor metabolism
@ast
Mutation in the 4a-carbinolami ...... defective cofactor metabolism
@en
Mutation in the 4a-carbinolami ...... defective cofactor metabolism
@nl
prefLabel
Mutation in the 4a-carbinolami ...... defective cofactor metabolism
@ast
Mutation in the 4a-carbinolami ...... defective cofactor metabolism
@en
Mutation in the 4a-carbinolami ...... defective cofactor metabolism
@nl
P2093
P2860
P1476
Mutation in the 4a-carbinolami ...... defective cofactor metabolism
@en
P2093
P2860
P304
P407
P577
1993-09-01T00:00:00Z