Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice

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...

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Detalles Bibliográficos
Autores principales: Jasmin Barman-Aksözen, Paulina C´wiek, Vijay B. Bansode, Frank Koentgen, Judith Trüb, Pawel Pelczar, Paolo Cinelli, Xiaoye Schneider-Yin, Daniel Schümperli, Elisabeth I. Minder
Formato: Artigo
Lenguaje:Inglês
Publicado: The Company of Biologists 2017-03-01
Colección:Disease Models & Mechanisms
Materias:
Liver dysfunction
Mouse model
Photosensitivity
Protoporphyrin IX (PPIX)
Rare disease
Splicing defect
Acceso en línea:http://dmm.biologists.org/content/10/3/225
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