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Structural and functional analyses of human ferroportin and molecular mechanisms associated with hemochromatosis type 4. Analyses structurales et fonctionnelles de la ferroportine humaine et mécanismes moléculaires associés à l'hémochromatose de type 4

Archive ouverte | Le Tertre, Marlène | CCSD

Hemochromatosis type 4 (HC4) is considered as one of the most common forms of inherited iron overload after hemochromatosis type 1. It is associated with heterozygous mutations in the SLC40A1 gene which encodes the sole iron expor...

Missense RHD SNVs induce weakened D antigen expression by altering splicing and/or protein expression

Archive ouverte | Raud, Loann | CCSD

International audience. Background: Although D variant phenotype is known to be due to genetic defects, including rare missense single nucleotide variants (SNVs), within the RHD gene, few studies have addressed the ...

Insights into the Role of the Discontinuous TM7 Helix of Human Ferroportin through the Prism of the Asp325 Residue

Archive ouverte | Le Tertre, Marlène | CCSD

International audience. The negatively charged Asp325 residue has proved to be essential for iron export by human (HsFPN1) and primate Philippine tarsier (TsFpn) ferroportin, but its exact role during the iron trans...

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