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

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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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: The Company of Biologists 2017-03-01
Series:Disease Models & Mechanisms
Subjects:
Liver dysfunction
Mouse model
Photosensitivity
Protoporphyrin IX (PPIX)
Rare disease
Splicing defect
Online Access:http://dmm.biologists.org/content/10/3/225

Internet

http://dmm.biologists.org/content/10/3/225

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