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Article

Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia.

Blood - 28 May 2009

Silvestri Laura, Guillem Flavia, Pagani Alessia, Nai Antonella, Oudin Claire, Silva Muriel, Toutain Fabienne, Kannengiesser Caroline, Beaumont Carole, Camaschella Clara, Grandchamp Bernard

Abstract excerpt

Matriptase-2 is a transmembrane serine protease that negatively regulates hepcidin expression by cleaving membrane-bound hemojuvelin. Matriptase-2 has a complex ectodomain, including a C-terminal serine protease domain and its activation requires an autocatalytic cleavage. Matriptase-2 mutations have been reported in several patients with iron-refractory iron deficiency anemia. Here we describe a patient with 2...

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Source

Identifiers

PMID: 19357398
DOI: 10.1182/blood-2008-12-195594

Genes

TMPRSS6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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