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Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia
Blood, 04/09/09
Silvestri L et al. - The activating cleavage was absent for the LDLRA mutants, and reduced for the CUB mutant. All three mutated proteins were still able to physically interact with hemojuvelin but only partially repressed hepcidin expression as compared to wild type matriptase-2. Results underline the importance of LDLRA and CUB domains of matriptase-2.
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