Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

Maintenance of the correct redox status of iron is functionally important for critical biological processes. Multicopper ferroxidases play an important role in oxidizing ferrous iron, released from the cells, into ferric iron, which is subsequently distributed by transferrin. Two well-characterized...

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Bibliographic Details
Main Authors: Prashant Sharma, Marie Reichert, Yan Lu, Thomas C Markello, David R Adams, Peter J Steinbach, Brie K Fuqua, Xenia Parisi, Stephen G Kaler, Christopher D Vulpe, Gregory J Anderson, William A Gahl, May Christine V Malicdan
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2019-05-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1008143

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https://doi.org/10.1371/journal.pgen.1008143

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