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Splicing analysis of SLC40A1 missense variations and contribution to hemochromatosis type 4 phenotypes.
Le Tertre M, Ka C, Raud L, Berlivet I, Gourlaouen I, Richard G, Uguen K, Chen JM, Férec C, Fichou Y, Le Gac G. Le Tertre M, et al. Blood Cells Mol Dis. 2021 Mar;87:102527. doi: 10.1016/j.bcmd.2020.102527. Epub 2020 Dec 8. Blood Cells Mol Dis. 2021. PMID: 33341511
The selected variants were investigated by different in silico prediction tools and prioritized for midigene splicing assays. Of the 15 variations tested in vitro, only two were associated with splicing changes. ...
The selected variants were investigated by different in silico prediction tools and prioritized for midigene splicing assays. Of the …
Rare causes of hereditary iron overload.
Ponka P. Ponka P. Semin Hematol. 2002 Oct;39(4):249-62. doi: 10.1053/shem.2002.35638. Semin Hematol. 2002. PMID: 12382200 Review.
The cardinal feature of this extrapyramidal disease is pathologic iron accumulation in the globus pallidus. The defect in PANK2 is predicted to cause the accumulation of cysteine, which binds iron and causes oxidative stress in the iron-rich globus pallidus....
The cardinal feature of this extrapyramidal disease is pathologic iron accumulation in the globus pallidus. The defect in PANK2 is predic …
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.
Majore S, Bonaccorsi di Patti MC, Valiante M, Polticelli F, Cortese A, Di Bartolomeo S, De Bernardo C, De Muro M, Faienza F, Radio FC, Grammatico P, Musci G. Majore S, et al. Biochim Biophys Acta Mol Basis Dis. 2018 Feb;1864(2):464-470. doi: 10.1016/j.bbadis.2017.11.006. Epub 2017 Nov 14. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29154924 Free article.
Replacement of G204 with arginine appears to cause a more complex defect with impact both on iron export function and hepcidin sensitivity. This finding confirms the difficulty of predicting the effect of a mutation on the molecular properties of Fpn in order to provide an …
Replacement of G204 with arginine appears to cause a more complex defect with impact both on iron export function and hepcidin sensitivity. …
Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.
Le Gac G, Ka C, Joubrel R, Gourlaouen I, Lehn P, Mornon JP, Férec C, Callebaut I. Le Gac G, et al. Hum Mutat. 2013 Oct;34(10):1371-80. doi: 10.1002/humu.22369. Epub 2013 Sep 10. Hum Mutat. 2013. PMID: 23784628
In the present study, we have developed an approach based on comparative modeling, which has led to the construction of a model of the three-dimensional (3D) structure of ferroportin by homology to the crystal structure of a Major Facilitator Superfamily member (EmrD). This model …
In the present study, we have developed an approach based on comparative modeling, which has led to the construction of a model of the three …