1. TMPRSS6 as a Therapeutic Target for Disorders of Erythropoiesis and Iron Homeostasis.
- Author
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Ganz, Tomas, Nemeth, Elizabeta, Rivella, Stefano, Goldberg, Paul, Dibble, Andrew, McCaleb, Michael, Guo, Shuling, Monia, Brett, and Barrett, Terrance
- Subjects
Hemochromatosis ,Ineffective erythropoiesis ,Iron overload ,Iron restriction ,Thalassemia ,Mice ,Animals ,Humans ,Erythropoiesis ,Anemia ,Iron-Deficiency ,Iron ,Liver ,Homeostasis ,Membrane Proteins ,Serine Endopeptidases - Abstract
TMPRSS6 is a serine protease highly expressed in the liver. Its role in iron regulation was first reported in 2008 when mutations in TMPRSS6 were shown to be the cause of iron-refractory iron deficiency anemia (IRIDA) in humans and in mouse models. TMPRSS6 functions as a negative regulator of the expression of the systemic iron-regulatory hormone hepcidin. Over the last decade and a half, growing understanding of TMPRSS6 biology and mechanism of action has enabled development of new therapeutic approaches for patients with diseases of erythropoiesis and iron homeostasis.ClinicalTrials.gov identifier NCT03165864.
- Published
- 2023