ArticleProceedings of the National Academy of Sciences of the United States of America1999
In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 52 citations in OpenAlex.
- Article
- Embryo and fetal gene editing: Technical challenges and progress toward clinical applications.Molecular therapy. Methods & clinical development · 2024Review
- Gene modification therapies for hereditary diseases in the fetus.Prenatal diagnosis · 2023Review
- Bipotent transitional liver progenitor cells contribute to liver regeneration.Nature genetics · 2023Article
- Implications of Polyploidy and Ploidy Alterations in Hepatocytes in Liver Injuries and Cancers.International journal of molecular sciences · 2022Review
- 2-Year-Old and 3-Year-Old Italian ALS Patients with NovelMetabolites · 2022Article
- Polyploid Hepatocytes Facilitate Adaptation and Regeneration to Chronic Liver Injury.The American journal of pathology · 2019Article
- Homologous recombination mediates stable Fah gene integration and phenotypic correction in tyrosinaemia mouse-model.World journal of hepatology · 2018Article
- Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1.The American journal of pathology · 2017Article
- A universal system to select gene-modified hepatocytes in vivo.Science translational medicine · 2016Article
- Disruption of fumarylacetoacetate hydrolase causes spontaneous cell death under short-day conditions in Arabidopsis.Plant physiology · 2013Article
- In vivo selection of transplanted hepatocytes by pharmacological inhibition of fumarylacetoacetate hydrolase in wild-type mice.Molecular therapy : the journal of the American Society of Gene Therapy · 2012Article
- Aneuploidy as a mechanism for stress-induced liver adaptation.The Journal of clinical investigation · 2012Article
- Ochronosis in a murine model of alkaptonuria is synonymous to that in the human condition.Osteoarthritis and cartilage · 2012Article
- Article
- The Caenorhabditis elegans K10C2.4 gene encodes a member of the fumarylacetoacetate hydrolase family: a Caenorhabditis elegans model of type I tyrosinemia.The Journal of biological chemistry · 2008Article
- Slow-onset inhibition of fumarylacetoacetate hydrolase by phosphinate mimics of the tetrahedral intermediate: kinetics, crystal structure and pharmacokinetics.The Biochemical journal · 2007Article
- Maleylacetoacetate isomerase (MAAI/GSTZ)-deficient mice reveal a glutathione-dependent nonenzymatic bypass in tyrosine catabolism.Molecular and cellular biology · 2002Article
- Liver repopulation for the treatment of metabolic diseases.Journal of inherited metabolic disease · 2001Review
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4 authors at 3 institutions in 1 country.
Funding
Abstract
Hereditary tyrosinemia type I and alkaptonuria are disorders of tyrosine catabolism caused by deficiency of fumarylacetoacetate hydrolase (FAH) and homogentisic acid dioxygenase (HGD), respectively. Tyrosinemia is a severe childhood disease that affects the liver and kidneys, but alkaptonuria is a more benign adult disorder in comparison. Because HGD is upstream of FAH in the tyrosine pathway, mice doubly mutant in both enzymes were found to be protected from the liver and renal damage of tyrosinemia as hypothesized. Mice mutant at the tyrosinemic locus but heterozygous for alkaptonuria spontaneously developed clonal nodules of functionally normal hepatocytes that were able to rescue the livers of some mice with this genotype. This phenotypic rescue was a result of an inactivating mutation of the wild-type homogentisic acid dioxygenase gene, thus presenting an example of an in vivo suppressor mutation in a mammalian model.
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