Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: a mechanism underlying phenylketonuria.

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

The trial behind it

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Who cites it

12 citing papers in PubMed, 36 citations in OpenAlex.

1. Mapping the Severity of Phenylalanine Hydroxylase Deficiency.Journal of inherited metabolic disease · 2026
   Review
2. Genetic diagnosis and molecular characterization of three novel variations in the phenylalanine hydroxylase gene from Chinese patients with phenylketonuria.EXCLI journal · 2026
   Article
3. Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.Journal of inherited metabolic disease · 2012
   Article
4. Chaperone-like therapy with tetrahydrobiopterin in clinical trials for phenylketonuria: is genotype a predictor of response?JIMD reports · 2012
   Article
5. Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.American journal of human genetics · 2007
   Article
6. Human hereditary glutathione synthetase deficiency: kinetic properties of mutant enzymes.The Biochemical journal · 2004
   Article
7. After the genome--the phenome?Journal of inherited metabolic disease · 2004
   Review
8. Missense mutations in the N-terminal domain of human phenylalanine hydroxylase interfere with binding of regulatory phenylalanine.American journal of human genetics · 2001
   Article
9. The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders.Journal of inherited metabolic disease · 2001
   Review
10. Development of a skin-based metabolic sink for phenylalanine by overexpression of phenylalanine hydroxylase and GTP cyclohydrolase in primary human keratinocytes.Gene therapy · 2000
    Article
11. Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.Journal of inherited metabolic disease · 2000
    Review
12. Protein misfolding disorders: pathogenesis and intervention.Journal of inherited metabolic disease
    Review

Corrections and comments

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Authors and funding

5 authors at 2 institutions in 1 country.

Funding

No grant is acknowledged in the PubMed record.

Abstract

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