Literature DB >> 30381414

Loss-of-function ferroportin disease: novel mechanistic insights and unanswered questions.

L Tom Vlasveld1, Dorine W Swinkels2.   

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Year:  2018        PMID: 30381414      PMCID: PMC6278966          DOI: 10.3324/haematol.2018.203315

Source DB:  PubMed          Journal:  Haematologica        ISSN: 0390-6078            Impact factor:   9.941


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  20 in total

1.  Structure-function analysis of the human ferroportin iron exporter (SLC40A1): effect of hemochromatosis type 4 disease mutations and identification of critical residues.

Authors:  Gérald Le Gac; Chandran Ka; Rozenn Joubrel; Isabelle Gourlaouen; Pierre Lehn; Jean-Paul Mornon; Claude Férec; Isabelle Callebaut
Journal:  Hum Mutat       Date:  2013-09-10       Impact factor: 4.878

2.  A structural model of human ferroportin and of its iron binding site.

Authors:  Maria C Bonaccorsi di Patti; Fabio Polticelli; Giovanna Cece; Antimo Cutone; Franco Felici; Tiziana Persichini; Giovanni Musci
Journal:  FEBS J       Date:  2014-05-14       Impact factor: 5.542

3.  A novel mammalian iron-regulated protein involved in intracellular iron metabolism.

Authors:  S Abboud; D J Haile
Journal:  J Biol Chem       Date:  2000-06-30       Impact factor: 5.157

4.  Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin.

Authors:  Sharraya Aschemeyer; Bo Qiao; Deborah Stefanova; Erika V Valore; Albert C Sek; T Alex Ruwe; Kyle R Vieth; Grace Jung; Carla Casu; Stefano Rivella; Mika Jormakka; Bryan Mackenzie; Tomas Ganz; Elizabeta Nemeth
Journal:  Blood       Date:  2017-12-13       Impact factor: 22.113

5.  Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Authors:  Isabelle Callebaut; Rozenn Joubrel; Serge Pissard; Caroline Kannengiesser; Victoria Gérolami; Cécile Ged; Estelle Cadet; François Cartault; Chandran Ka; Isabelle Gourlaouen; Lénaick Gourhant; Claire Oudin; Michel Goossens; Bernard Grandchamp; Hubert De Verneuil; Jacques Rochette; Claude Férec; Gérald Le Gac
Journal:  Hum Mol Genet       Date:  2014-04-08       Impact factor: 6.150

6.  The iron exporter ferroportin/Slc40a1 is essential for iron homeostasis.

Authors:  Adriana Donovan; Christine A Lima; Jack L Pinkus; Geraldine S Pinkus; Leonard I Zon; Sylvie Robine; Nancy C Andrews
Journal:  Cell Metab       Date:  2005-03       Impact factor: 27.287

7.  A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.

Authors:  María-Isabel Moreno-Carralero; Juan-Antonio Muñoz-Muñoz; Nuria Cuadrado-Grande; Rafaela López-Rodríguez; María José Hernández-Alfaro; Alejandro del-Castillo-Rueda; Rafael Enríquez-de-Salamanca; Manuel Méndez; María-Josefa Morán-Jiménez
Journal:  Am J Hematol       Date:  2014-04-10       Impact factor: 10.047

Review 8.  Ironing out Ferroportin.

Authors:  Hal Drakesmith; Elizabeta Nemeth; Tomas Ganz
Journal:  Cell Metab       Date:  2015-10-01       Impact factor: 27.287

9.  Outward- and inward-facing structures of a putative bacterial transition-metal transporter with homology to ferroportin.

Authors:  Reiya Taniguchi; Hideaki E Kato; Josep Font; Chandrika N Deshpande; Miki Wada; Koichi Ito; Ryuichiro Ishitani; Mika Jormakka; Osamu Nureki
Journal:  Nat Commun       Date:  2015-10-13       Impact factor: 14.919

Review 10.  Ferroportin disease: pathogenesis, diagnosis and treatment.

Authors:  Antonello Pietrangelo
Journal:  Haematologica       Date:  2017-11-03       Impact factor: 9.941

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  1 in total

Review 1.  Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Authors:  L Tom Vlasveld; Roel Janssen; Edouard Bardou-Jacquet; Hanka Venselaar; Houda Hamdi-Roze; Hal Drakesmith; Dorine W Swinkels
Journal:  Pharmaceuticals (Basel)       Date:  2019-09-09
  1 in total

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