Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

Loss-of-function mutations in genes for heme biosynthetic enzymes can give rise to congenital porphyrias, eight forms of which have been described. The genetic penetrance of the porphyrias is clinically variable, underscoring the role of additional causative, contributing, and modifier genes. We pre...

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Main Authors: Yien, Yvette Y. (Author), Ducamp, Sarah (Author), van der Vorm, Lisa N. (Author), Manceau, Hana (Author), Kannengiesser, Caroline (Author), Bergonia, Hector A. (Author), Kafina, Martin D. (Author), Karim, Zoubida (Author), Gouya, Laurent (Author), Puy, Hervé (Author), Phillips, John D. (Author), Nicolas, Gaël (Author), Paw, Barry H. (Author), Kardon, Julia R. (Contributor), Baker, Tania (Contributor)
Other Authors: Massachusetts Institute of Technology. Department of Biology (Contributor)
Format: Article
Language:English
Published: National Academy of Sciences (U.S.), 2018-04-24T13:07:05Z.
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