Associated Papers
The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease).
Uguen K et al.
Human Mutation, 2023
A disease-causing mutation K240E disrupts ferroportin trafficking by SUMO (ferroportin SUMOylation).
Bayele HK et al.
Biochemistry and Biophysics Reports, 2021
Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.
Vlasveld LT et al.
Pharmaceuticals (basel, Switzerland), 2019
Ferroportin disease: pathogenesis, diagnosis and treatment.
Pietrangelo A
Haematologica, 2017
Deciphering the molecular basis of ferroportin resistance to hepcidin: Structure/function analysis of rare SLC40A1 missense mutations found in suspected hemochromatosis type 4 patients.
Le Tertre M et al.
Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2017
Ferroportin diseases: functional studies, a link between genetic and clinical phenotype.
Détivaud L et al.
Human Mutation, 2013
Reduced sensitivity of the ferroportin Q248H mutant to physiological concentrations of hepcidin.
Nekhai S et al.
Haematologica, 2013
Hepcidin-induced endocytosis of ferroportin is dependent on ferroportin ubiquitination.
Qiao B et al.
Cell Metabolism, 2012
Two novel mutations in the SLC40A1 and HFE genes implicated in iron overload in a Spanish man.
Del-Castillo-Rueda A et al.
European Journal of Haematology, 2011
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