ArticleInternational journal of molecular sciences2021
Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I.
Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Optimising Formulations for Paediatric Patients with Inherited Metabolic Disorders: The Case Study of Levocarnitine.Pharmaceutical medicine · 2026Review
- Lactobacillus johnsonii-derived extracellular vesicles modulate gut microbiota metabolites and macrophage-related immune responses against Salmonella Typhimurium infection.Veterinary research · 2026Article
- Aminolevulinate inhibition of human coproporphyrinogen oxidase clarifies coproporphyrin III accumulation in porphyrias.Bioscience reports · 2026Article
- Prediction of Biomarkers for Hepatocellular Carcinoma Based on Proteomics and Phosphoproteomics.International journal of general medicine · 2026Article
- Improving the Pharmacological Properties of Ciclopirox for Its Use in Congenital Erythropoietic Porphyria.Journal of personalized medicine · 2021Article
- Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review.Frontiers in pediatrics · 2021Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Fumarylacetoacetate hydrolase (FAH) is the fifth enzyme in the tyrosine catabolism pathway. A deficiency in human FAH leads to hereditary tyrosinemia type I (HT1), an autosomal recessive disorder that results in the accumulation of toxic metabolites such as succinylacetone, maleylacetoacetate, and fumarylacetoacetate in the liver and kidney, among other tissues. The disease is severe and, when untreated, it can lead to death. A low tyrosine diet combined with the herbicidal nitisinone constitutes the only available therapy, but this treatment is not devoid of secondary effects and long-term complications. In this study, we targeted FAH for the first-time to discover new chemical modulators that act as pharmacological chaperones, directly associating with this enzyme. After screening several thousand compounds and subsequent chemical redesign, we found a set of reversible inhibitors that associate with FAH close to the active site and stabilize the (active) dimeric species, as demonstrated by NMR spectroscopy. Importantly, the inhibitors are also able to partially restore the normal phenotype in a newly developed cellular model of HT1.
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