Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome

Arosio P(2009)Ferritins: a family of molecules for iron storage, antioxidation and more Biochim Biophys Acta 1790 589-599

Ingrassia R(2004)Balancing acts: molecular control of mammalian iron metabolism Cell 117 285-297

Cavadini P(1995)A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract Br J Haematol 90 931-934

Hentze MW(1995)Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract Nat Genet 11 444-446

Muckenthaler MU(1995)Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the “Verona mutation”) Blood 86 4050-4053

Andrews NC(1995)Bilateral cataract and high serum ferritin: a new dominant genetic disorder? J Med Genet 32 778-779

Girelli D(1977)DNA sequencing with chain-terminating inhibitors Proc Natl Acad Sci U S A 74 5463-5467

Olivieri O(1993)Recombinant iron-regulatory factor functions as an iron-responsive-element-binding protein, a translational repressor and an aconitase. A functional assay for translational repression and direct demonstration of the iron switch Eur J Biochem 218 657-667

De Franceschi L(2006)Iron regulation and the cell cycle: identification of an iron-responsive element in the 3′-untranslated region of human cell division cycle 14A mRNA by a refined microarray-based screening strategy J Biol Chem 281 22865-22874

Corrocher R(2003)Scanning mutations of the 5′UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutations Br J Haematol 121 173-179

Arosio P(2009)Ferritins: a family of molecules for iron storage, antioxidation and more Biochim Biophys Acta 1790 589-599

Ingrassia R(2004)Balancing acts: molecular control of mammalian iron metabolism Cell 117 285-297

Cavadini P(1995)A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract Br J Haematol 90 931-934

Hentze MW(1995)Mutation in the iron responsive element of the L ferritin mRNA in a family with dominant hyperferritinaemia and cataract Nat Genet 11 444-446

Muckenthaler MU(1995)Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the “Verona mutation”) Blood 86 4050-4053

Andrews NC(1995)Bilateral cataract and high serum ferritin: a new dominant genetic disorder? J Med Genet 32 778-779

Girelli D(1977)DNA sequencing with chain-terminating inhibitors Proc Natl Acad Sci U S A 74 5463-5467

Olivieri O(1993)Recombinant iron-regulatory factor functions as an iron-responsive-element-binding protein, a translational repressor and an aconitase. A functional assay for translational repression and direct demonstration of the iron switch Eur J Biochem 218 657-667

De Franceschi L(2006)Iron regulation and the cell cycle: identification of an iron-responsive element in the 3′-untranslated region of human cell division cycle 14A mRNA by a refined microarray-based screening strategy J Biol Chem 281 22865-22874

Corrocher R(2003)Scanning mutations of the 5′UTR regulatory sequence of L-ferritin by denaturing high-performance liquid chromatography: identification of new mutations Br J Haematol 121 173-179