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TMPRSS6 as a Therapeutic Target for Disorders of Erythropoiesis and Iron Homeostasis.


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.

SUBMITTER: Ganz T 

PROVIDER: S-EPMC10070284 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature

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TMPRSS6 as a Therapeutic Target for Disorders of Erythropoiesis and Iron Homeostasis.

Ganz Tomas T   Nemeth Elizabeta E   Rivella Stefano S   Goldberg Paul P   Dibble Andrew R AR   McCaleb Michael L ML   Guo Shuling S   Monia Brett P BP   Barrett Terrance D TD  

Advances in therapy 20230123 4


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  ...[more]

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