Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria.
Mirmiran A, Schmitt C, Lefebvre T, Manceau H, Daher R, Oustric V, Poli A, Lacapère JJ, Moulouel B, Puy H, Karim Z, Peoc'h K, Lenglet H, Simonin S, Deybach JC, Nicolas G, Gouya L.
Mirmiran A, et al.
Am J Hum Genet. 2019 Feb 7;104(2):341-347. doi: 10.1016/j.ajhg.2018.12.021. Epub 2019 Jan 31.
Am J Hum Genet. 2019.
PMID: 30712775
Free PMC article.
FECH activity is responsible for the accumulation of protoporphyrin IX (PPIX). Without etiopathogenic treatment, EPP manifests as severe photosensitivity. 95% of affected individuals present a hypomorphic FECH allele trans to a loss-of-function (LOF) FECH mutation, …
FECH activity is responsible for the accumulation of protoporphyrin IX (PPIX). Without etiopathogenic treatment, EPP manifests as severe …