Article
In vivo adenine base editing reverts C282Y and improves iron metabolism in hemochromatosis mice.
Nature communications - 5 Sept 2022
Rovai Alice, Chung BoMee, Hu Qingluan, Hook Sebastian, Yuan Qinggong, Kempf Tibor, Schmidt Florian, Grimm Dirk, Talbot Steven R, Steinbrück Lars, Götting Jasper, Bohne Jens, Krooss Simon A, Ott Michael
Abstract excerpt
Hemochromatosis is one of the most common inherited metabolic diseases among white populations and predominantly originates from a homozygous C282Y mutation in the HFE gene. The G > A transition at position c.845 of the gene causes misfolding of the HFE protein, ultimately resulting in its absence at the cell membrane. Consequently, the lack of interaction with the transferrin receptors 1 and 2 leads to systemic...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.