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

• Main Authors: Jasmin Barman-Aksözen (Author), Paulina C´wiek (Author), Vijay B. Bansode (Author), Frank Koentgen (Author), Judith Trüb (Author), Pawel Pelczar (Author), Paolo Cinelli (Author), Xiaoye Schneider-Yin (Author), Daniel Schümperli (Author), Elisabeth I. Minder (Author)
• Format: Book
• Published: The Company of Biologists, 2017-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...