Phenylalanine Hydroxylase
"Phenylalanine Hydroxylase" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An enzyme of the oxidoreductase class that catalyzes the formation of L-TYROSINE, dihydrobiopterin, and water from L-PHENYLALANINE, tetrahydrobiopterin, and oxygen. Deficiency of this enzyme may cause PHENYLKETONURIAS and PHENYLKETONURIA, MATERNAL. EC 1.14.16.1.
| Descriptor ID |
D010651
|
| MeSH Number(s) |
D08.811.682.690.708.601
|
| Concept/Terms |
Phenylalanine Hydroxylase- Phenylalanine Hydroxylase
- Hydroxylase, Phenylalanine
- Phenylalanine 4-Hydroxylase
- 4-Hydroxylase, Phenylalanine
- Phenylalanine 4 Hydroxylase
- Phenylalanine 4-Monooxygenase
- 4-Monooxygenase, Phenylalanine
- Phenylalanine 4 Monooxygenase
|
Below are MeSH descriptors whose meaning is more general than "Phenylalanine Hydroxylase".
Below are MeSH descriptors whose meaning is more specific than "Phenylalanine Hydroxylase".
This graph shows the total number of publications written about "Phenylalanine Hydroxylase" by people in this website by year, and whether "Phenylalanine Hydroxylase" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 2 | 0 | 2 |
| 1996 | 1 | 0 | 1 |
| 1998 | 0 | 1 | 1 |
| 2000 | 1 | 0 | 1 |
| 2002 | 0 | 1 | 1 |
| 2005 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Phenylalanine Hydroxylase" by people in Profiles.
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A noncoding RNA modulator potentiates phenylalanine metabolism in mice. Science. 2021 08 06; 373(6555):662-673.
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Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene. Hum Mutat. 2018 11; 39(11):1569-1580.
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Low therapeutic threshold for hepatocyte replacement in murine phenylketonuria. Mol Ther. 2005 Aug; 12(2):337-44.
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Partial rescue of insulin receptor-deficient mice by transgenic complementation with an activated insulin receptor in the liver. Gene. 2002 Oct 16; 299(1-2):219-25.
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Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations. Am J Hum Genet. 2000 Jun; 66(6):1882-99.
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[Comparison of genotype and intellectual phenotype in untreated phenylketonuric children]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998 Oct 10; 15(5):297-9.
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[Analysis of the A/C polymorphic site within the phenylalanine hydroxylase gene]. Yi Chuan Xue Bao. 1996; 23(3):169-73.
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Phenylalanine hydroxylase activity in preterm infants: is tyrosine a conditionally essential amino acid? Am J Clin Nutr. 1995 Jun; 61(6):1218-23.
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[Analysis of short tandem repeats polymorphism in the phenylalanine hydroxylase gene and its application to prenatal gene diagnosis of phenylketonuria]. Zhonghua Yi Xue Za Zhi. 1995 Jan; 75(1):22-4, 61.
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Gene therapy for phenylketonuria: phenotypic correction in a genetically deficient mouse model by adenovirus-mediated hepatic gene transfer. Gene Ther. 1994 Jul; 1(4):247-54.