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Inhibition of ABCG2 prevents phototoxicity in a mouse model of erythropoietic protoporphyria.
Nat Commun
December 2024
Center for Pharmacogenetics, Department of Pharmaceutical Sciences, School of Pharmacy, University of Pittsburgh, Pittsburgh, PA, USA.
Erythropoietic protoporphyria (EPP) is a genetic disease characterized by protoporphyrin IX-mediated painful phototoxicity. Currently, options for the management of EPP-associated phototoxicity are limited and no oral medication is available. Here, we investigated a novel therapy against EPP-associated phototoxicity by targeting the ATP-binding cassette subfamily G member 2 (ABCG2), the efflux transporter of protoporphyrin IX.
View Article and Find Full Text PDFNeedle-like red cell inclusions in congenital erythropoietic porphyria.
Br J Haematol
November 2024
Hematology Department, Hospital Universitario La Paz, Madrid, Spain.
CRISPR/Cas9-Mediated Knockout Zebrafish: Unraveling the Pathogenesis of Erythropoietic Protoporphyria and Facilitating Drug Screening.
Int J Mol Sci
October 2024
Department of Marine Life Sciences & Center for Genomic Selection in Korean Aquaculture, Jeju National University, Jeju 63243, Republic of Korea.
Erythropoietic protoporphyria (EPP1) results in painful photosensitivity and severe liver damage in humans due to the accumulation of fluorescent protoporphyrin IX (PPIX). While zebrafish () models for porphyria exist, the utility of ferrochelatase () knockout zebrafish, which exhibit EPP, for therapeutic screening and biological studies remains unexplored. This study investigated the use of clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9-mediated -knockout zebrafish larvae as a model of EPP1 for drug screening.
View Article and Find Full Text PDFThe impact of minimal sunlight exposure on bone health: insights from a cohort study in erythropoietic protoporphyria.
J Clin Endocrinol Metab
October 2024
Porphyria Center Rotterdam, Center for Lysosomal and Metabolic Disease, Department of Internal Medicine, Erasmus MC, Erasmus University Medical Center, Rotterdam, the Netherland.
Article Synopsis
- Erythropoietic protoporphyria (EPP) is an inherited metabolic disease that leads to painful reactions to sunlight and increased risk of osteoporosis due to low bone mineral density (BMD) and vitamin D deficiency.
- A study on EPP patients revealed that a significant majority had low BMD, with 39.5% classified as osteopenic and 15.3% as osteoporotic, alongside a high incidence of related fractures.
- The findings highlight the importance of maintaining adequate vitamin D levels for improving BMD, while treatments like afamelanotide did not show effectiveness.
Severe Acute Porphyria Exacerbation Post Intravenous Iron Infusion: A Case Report.
Cureus
September 2024
Department of Internal Medicine, Northampton General Hospital NHS Trust, Northampton, GBR.
Article Synopsis
- A 28-year-old man with erythropoietic porphyria experienced a severe worsening of symptoms after receiving an intravenous iron infusion, leading to a painful rash, nausea, and abnormal lab results.
- Multidisciplinary care from dermatology, gastrointestinal, and hematology specialists was crucial for his recovery, which included strict light avoidance and other symptom management strategies.
- The case highlights the need for awareness of triggers, timely diagnosis, ongoing follow-up, and the potential importance of genetic counseling in managing EPP.
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