ArticleDisease models & mechanisms2017
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.
Article in Disease models & mechanisms, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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Who cites it
10 citing papers in PubMed, 11 citations in OpenAlex.
- Animal Models of Porphyria with Hepatic Involvement.Seminars in liver disease · 2025Review
- Challenges in the pathological diagnosis of erythropoietic protoporphyria: a case report.Frontiers in medicine · 2025Article
- PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.Human molecular genetics · 2024Article
- Considerations for Generating Humanized Mouse Models to Test Efficacy of Antisense Oligonucleotides.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain-a patient-reported outcome efficacy measure.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria.Nucleic acids research · 2020Article
- Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.Molecular genetics and metabolism · 2019Review
- Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases.F1000Research · 2019Article
- Porphyrin-Induced Protein Oxidation and Aggregation as a Mechanism of Porphyria-Associated Cell Injury.Cellular and molecular gastroenterology and hepatology · 2019Review
- The association between chemical-induced porphyria and hepatic cancer.Toxicology research · 2018Review
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Erythropoietic protoporphyria (EPP) is caused by deficiency of ferrochelatase (FECH), which incorporates iron into protoporphyrin IX (PPIX) to form heme. Excitation of accumulated PPIX by light generates oxygen radicals that evoke excessive pain and, after longer light exposure, cause ulcerations in exposed skin areas of individuals with EPP. Moreover, ∼5% of the patients develop a liver dysfunction as a result of PPIX accumulation. Most patients (∼97%) have a severe
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Registered trials
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.