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Real-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria.
J Dermatol
January 2025
Mitsubishi Tanabe Pharma America, Inc., Jersey City, New Jersey, USA.
Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders. There are limited data regarding how these disorders are managed in real-world settings. The aim of this study was to document the characteristics and treatment patterns among patients diagnosed with EPP or XLP in general real-world settings in the United States.
View Article and Find Full Text PDFCorrection: Erythropoietic protoporphyria: case reports for clinical and therapeutic hints.
Ital J Pediatr
December 2024
Department of Medicine, Surgery, and Health Sciences, University of Trieste, Trieste, Italy.
Discovery of MT-7117 (Dersimelagon Phosphoric Acid): A Novel, Potent, Selective, and Nonpeptidic Orally Available Melanocortin 1 Receptor Agonist.
J Med Chem
December 2024
Research Division, Mitsubishi Tanabe Pharma Corporation, 1000 Kamoshida-cho, Aoba-ku, Yokohama 227-0033, Japan.
Activation of the melanocortin 1 receptor (MC1R) mediates melanogenesis in melanocytes, anti-inflammatory effects in inflammatory cells, and antifibrotic effects in fibroblasts. Thus, MC1R agonists are expected to be beneficial for treating skin, autoimmune, inflammatory, and fibrotic diseases. Afamelanotide, an α-melanocyte-stimulating hormone (α-MSH) analogue MC1R agonist, is used clinically for treating erythropoietic protoporphyria (EPP) as a subcutaneous implant formulation.
View Article and Find Full Text PDFInhibition 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 PDFThe role of ABCG2 in health and disease: Linking cancer therapy resistance and other disorders.
Life Sci
January 2025
Tanta University, Faculty of Pharmacy, Department of Biochemistry, Tanta Postal Code: 31527, Egypt. Electronic address:
All biological systems have adenosine triphosphate (ATP) binding cassette (ABC) transporters, one of the significant protein superfamilies involved in transport across membranes. ABC transporters have been implicated in the etiology of diseases like metabolic disorders, cancer, and Alzheimer's disease. ATP-binding cassette superfamily G member 2 (ABCG2), one of the ABC transporters, is necessary for the ATP-dependent efflux of several endogenous and exogenous substances.
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