ReviewJournal of inherited metabolic disease2002
Tyrosinaemia type I and apoptosis of hepatocytes and renal tubular cells.
Review in Journal of inherited metabolic disease, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 51 citations in OpenAlex.
- Activation of homology-directed DNA repair plays key role in CRISPR-mediated genome correction.Gene therapy · 2023Article
- In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions.Nature communications · 2022Article
- Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders.Bioengineering (Basel, Switzerland) · 2022Review
- Article
- The future of gene-targeted therapy for hereditary tyrosinemia type 1 as a lead indication among the inborn errors of metabolism.Expert opinion on orphan drugs · 2020Article
- The Unique Spectrum of Mutations in Patients with Hereditary Tyrosinemia Type 1 in Different Regions of the Russian Federation.JIMD reports · 2019Article
- Hepatocyte spheroids as an alternative to single cells for transplantation after ex vivo gene therapy in mice and pig models.Surgery · 2018Article
- Proteomic evidences for microcystin-RR-induced toxicological alterations in mice liver.Scientific reports · 2018Article
- Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Review
- Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1.Science translational medicine · 2016Article
- Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease.Stem cell research · 2014Article
- Renal involvement in mitochondrial cytopathies.Pediatric nephrology (Berlin, Germany) · 2012Review
- Non-viral causes of hepatocellular carcinoma.Journal of gastrointestinal cancer · 2011Review
- Renal mitochondrial cytopathies.International journal of nephrology · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary tyrosinaemia type I (HT 1) (McKusick 276700) is caused by a deficiency of fumarylacetoacetate hydrolase (FAH) activity, the last enzyme in the tyrosine catabolic pathway. Homozygous disruption of the gene encoding FAH in mice (Fah) causes neonatal lethality (i.e. lethal Albino deletion c14CoS mice), which limits the use of this animal as a model for HT I. We developed a new mouse model that carries two genetic defects, Fah and 4-hydroxyphenylpyruvate dioxygenase (Hpd). The double mutant Fah -/- Hpd -/- mice grew normally without evidence of liver and renal disease, showing a phenotype similar to Hpd -/- mice. Complete blockage of the tyrosine catabolic pathway at the, step of HPD prevents development of clinical phenotypes. Administration of homogentisate resulted in rapid apoptosis of hepatocytes and renal tubular epithelial cells, a central feature of visceral injury in patients with HT I. Simultaneously, renal tubular function was impaired, resulting in Fanconi syndrome. Apoptosis of hepatocyte and renal tubular cells is prevented by the caspase inhibitors YVAD or DEVD. However, these inhibitors do not prevent the release of cytochrome c or the development of renal tubular dysfunction. Apoptosis of hepatocytes and of renal tubular epithelial cells are characteristic features of this disease and the apoptotic signal in this disease seems to be initiated by fumarylacetoacetate.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.