Hepatic Iron Overload Associated With a Decreased Serum Ceruloplasmin Level in a Novel Clinical Type of Aceruloplasminemia

Hellman, 2002, Ceruloplasmin metabolism and function, Annu Rev Nutr, 22, 439, 10.1146/annurev.nutr.22.012502.114457 Gitlin, 2003, Wilson disease, Gastroenterology, 125, 1868, 10.1053/j.gastro.2003.05.010 Patel, 2000, Alternative RNA splicing generates a glycosylphosphatidylinositol-anchored form of ceruloplasmin in mammalian brain, J Biol Chem, 275, 4305, 10.1074/jbc.275.6.4305 Jeong, 2003, Glycosylphosphatidylinositol-anchored ceruloplasmin is required for iron efflux from cells in the central nervous system, J Biol Chem, 278, 27144, 10.1074/jbc.M301988200 Kono, 2005, Brain iron disorders, 880 Miyajima, 1987, Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration, Neurology, 37, 761, 10.1212/WNL.37.5.761 Miyajima, 2003, Aceruloplasminemia, an iron metabolic disorder, Neuropathology, 23, 345, 10.1046/j.1440-1789.2003.00521.x Nittis, 2002, The copper-iron connection, Semin Hematol, 39, 282, 10.1053/shem.2002.35633 Miyajima, 1999, Estimation of the gene frequency of aceruloplasminemia in Japan, Neurology, 53, 617, 10.1212/WNL.53.3.617 Daimon, 2000, A novel mutation of the ceruloplasmin gene in a patient with heteroallelic ceruloplasmin gene mutation (HypoCPGM), Tohoku J Exp Med, 191, 119, 10.1620/tjem.191.119 Jouanolle, 1997, A candidate gene for hemochromatosis, Hum Genet, 100, 544, 10.1007/s004390050549 Askwith, 1998, Site-directed mutagenesis of the yeast multicopper oxidase Fet3p, J Biol Chem, 273, 22415, 10.1074/jbc.273.35.22415 Sato, 1991, Mechanisms of copper incorporation during the biosynthesis of human ceruloplasmin, J Biol Chem, 266, 5128, 10.1016/S0021-9258(19)67764-1 Hellman, 2002, Biochemical analysis of a missense mutation in aceruloplasminemia, J Biol Chem, 277, 1375, 10.1074/jbc.M109123200 Hellman, 2002, Mechanisms of copper incorporation into human ceruloplasmin, J Biol Chem, 277, 46632, 10.1074/jbc.M206246200 Klomp, 1996, Expression of the ceruloplasmin gene in the human retina and brain, Hum Mol Genet, 5, 1989, 10.1093/hmg/5.12.1989 Cairo, 2001, Reduced serum ceruloplasmin levels in hereditary haemochromatosis, Br J Haematol, 114, 226, 10.1046/j.1365-2141.2001.02917.x Laine, 2002, Serum ceruloplasmin and ferroxidase activity are decreased in HFE C282Y homozygote male iron-overloaded patients, J Hepatol, 36, 60, 10.1016/S0168-8278(01)00254-9 Daimon, 1995, A nonsense mutation of the ceruloplasmin gene in hereditary ceruloplasmin deficiency with diabetes mellitus, Biochem Biophys Res Commun, 217, 89, 10.1006/bbrc.1995.2749 Miyajima, 2001, Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation, Neurology, 57, 2205, 10.1212/WNL.57.12.2205 Kuhn, 2005, Extrapyramidal and cerebellar movement disorder in association with heterozygous ceruloplasmin gene mutation, J Neurol, 252, 111, 10.1007/s00415-005-0608-3 Gitlin, 1960, Turnover of the copper and protein moieties of ceruloplasmin, Nature, 185, 693, 10.1038/185693a0 Matsuda, 1974, Determination of apoceruloplasmin by radioimmunoassay in nutritional copper deficiency, Menkes’ kinky hair syndrome, Wilson’s disease, and umbilical cord blood, Pediatr Res, 8, 821, 10.1203/00006450-197410000-00001