[HTML][HTML] Clinical severity and thermodynamic effects of iron-responsive element mutations in hereditary hyperferritinemia-cataract syndrome
CR Allerson, M Cazzola, TA Rouault - Journal of Biological Chemistry, 1999 - ASBMB
Hereditary hyperferritinemia-cataract syndrome (HHCS) is a novel genetic disorder
characterized by elevated serum ferritin and early onset cataract formation. The excessive
ferritin production in HHCS patients arises from aberrant regulation of l-ferritin translation
caused by mutations within the iron-responsive element (IRE) of thel-ferritin transcript. IREs
serve as binding sites for iron regulatory proteins (IRPs), iron-sensing proteins that regulate
ferritin translation. Previous observations suggested that each unique HHCS mutation …
characterized by elevated serum ferritin and early onset cataract formation. The excessive
ferritin production in HHCS patients arises from aberrant regulation of l-ferritin translation
caused by mutations within the iron-responsive element (IRE) of thel-ferritin transcript. IREs
serve as binding sites for iron regulatory proteins (IRPs), iron-sensing proteins that regulate
ferritin translation. Previous observations suggested that each unique HHCS mutation …
