Article
Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria.
Nucleic acids research - 21 May 2020
Halloy François, Iyer Pavithra S, Ćwiek Paulina, Ghidini Alice, Barman-Aksözen Jasmin, Wildner-Verhey van Wijk Nicole, Theocharides Alexandre P A, Minder Elisabeth I, Schneider-Yin Xiaoye, Schümperli Daniel, Hall Jonathan
Abstract excerpt
Erythropoietic protoporphyria (EPP) is a rare genetic disease in which patients experience acute phototoxic reactions after sunlight exposure. It is caused by a deficiency in ferrochelatase (FECH) in the heme biosynthesis pathway. Most patients exhibit a loss-of-function mutation in trans to an allele bearing a SNP that favors aberrant splicing of transcripts. One viable strategy for EPP is to deploy...
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