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...

Full description

Bibliographic Details
Main Authors: Yien, Yvette Y., Ducamp, Sarah, van der Vorm, Lisa N., Manceau, Hana, Kannengiesser, Caroline, Bergonia, Hector A., Kafina, Martin D., Karim, Zoubida, Gouya, Laurent, Puy, Hervé, Phillips, John D., Nicolas, Gaël, Paw, Barry H., Kardon, Julia R., Baker, Tania
Other Authors: Massachusetts Institute of Technology. Department of Biology
Format: Article
Published: National Academy of Sciences (U.S.) 2018
Online Access:http://hdl.handle.net/1721.1/114910
https://orcid.org/0000-0002-6621-4461

Internet

http://hdl.handle.net/1721.1/114910
https://orcid.org/0000-0002-6621-4461

Similar Items