Structural and Functional Consequences of Mutations in 6-Pyruvoyltetrahydropterin Synthase Causing Hyperphenylalaninemia in Humans

Structural and Functional Consequences of Mutations in 6-Pyruvoyltetrahydropterin Synthase Causing Hyperphenylalaninemia in Humans

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http://www.wikidata.org/entity/Q56700952
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemiaSerine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase IIDwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterinIdentification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian familiesChromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthaseAutomated inference of molecular mechanisms of disease from amino acid substitutions.Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.The proteasome: a macromolecular assembly designed to confine proteolysis to a nanocompartment.Elucidating common structural features of human pathogenic variations using large-scale atomic-resolution protein networksDisease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency.Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations.Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.
P2860

Structural and Functional Consequences of Mutations in 6-Pyruvoyltetrahydropterin Synthase Causing Hyperphenylalaninemia in Humans

Item
http://www.wikidata.org/entity/Q56700952
description
article publié dans la revue scientifique Journal of Biological Chemistry
@fr
im Dezember 1995 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published in Journal of Biological Chemistry
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в грудні 1995
@uk
name
Structural and Functional Cons ...... yperphenylalaninemia in Humans
@en
Structural and Functional Cons ...... yperphenylalaninemia in Humans
@nl
type
label
Structural and Functional Cons ...... yperphenylalaninemia in Humans
@en
Structural and Functional Cons ...... yperphenylalaninemia in Humans
@nl
prefLabel
Structural and Functional Cons ...... yperphenylalaninemia in Humans
@en
Structural and Functional Cons ...... yperphenylalaninemia in Humans
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P356
P1433
P1476
Structural and Functional Cons ...... yperphenylalaninemia in Humans
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577