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

Membrane-bound serine protease matriptase-2 (Tmprss6) is an essential regulator of iron homeostasis

(2008) A. R. Folgueras et al.   BLOOD

Immunoassay for human serum hepcidin

(2008) T. Ganz et al.   BLOOD

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

(2008) F. Guillem et al.   BLOOD

The Serine Protease Matriptase-2 (TMPRSS6) Inhibits Hepcidin Activation by Cleaving Membrane Hemojuvelin

(2008) Laura Silvestri et al.   Cell Metabolism

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron

(2008) M. A. Melis et al.   HAEMATOLOGICA

Hemojuvelin N-terminal mutants reach the plasma membrane but do not activate the hepcidin response

(2008) A. Pagani et al.   HAEMATOLOGICA

Upstream stimulatory factor 2 is implicated in the progression of biliary atresia by regulation of hepcidin expression

(2008) Ying-Hsien Huang et al.   JOURNAL OF PEDIATRIC SURGERY

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

(2008) Karin E Finberg et al.   NATURE GENETICS

The Serine Protease TMPRSS6 Is Required to Sense Iron Deficiency

(2008) X. Du et al.   SCIENCE

The type II transmembrane serine protease Matriptase-2 - identification, structural features, enzymology, expression pattern and potential roles

(2007) Andrew et al.   Frontiers in Bioscience-Landmark