Article
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.
Disease models & mechanisms - 1 Mar 2017
Barman-Aksözen Jasmin, C Wiek Paulina, Bansode Vijay B, Koentgen Frank, Trüb Judith, Pelczar Pawel, Cinelli Paolo, Schneider-Yin Xiaoye, Schümperli Daniel, Minder Elisabeth I
Abstract excerpt
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 exposed skin areas of individuals with EPP. Moreover, ∼5% of the patients develop a liver dysfunction as a result...
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