Dominant Mutants of Ceruloplasmin Impair the Copper Loading Machinery in Aceruloplasminemia
pmid: 19095659
handle: 11590/120202 , 11590/142414 , 11590/118398 , 11573/70107 , 11695/14784 , 11695/6848
pmid: 19095659
handle: 11590/120202 , 11590/142414 , 11590/118398 , 11573/70107 , 11695/14784 , 11695/6848
Dominant Mutants of Ceruloplasmin Impair the Copper Loading Machinery in Aceruloplasminemia
The multicopper oxidase ceruloplasmin plays a key role in iron homeostasis, and its ferroxidase activity is required to stabilize cell surface ferroportin, the only known mammalian iron exporter. Missense mutations causing the rare autosomal neurodegenerative disease aceruloplasminemia were investigated by testing their ability to prevent ferroportin degradation in rat glioma C6 cells silenced for endogenous ceruloplasmin. Most of the mutants did not complement (i.e. did not stabilize ferroportin) because of the irreversible loss of copper binding ability. Mutant R701W, which was found in a heterozygous very young patient with severe neurological problems, was unable to complement per se but did so in the presence of copper-glutathione or when the yeast copper ATPase Ccc2p was co-expressed, indicating that the protein was structurally able to bind copper but that metal loading involving the mammalian copper ATPase ATP7B was impaired. Notably, R701W exerted a dominant negative effect on wild type, and it induced the subcellular relocalization of ATP7B. Our results constitute the first evidence of "functional silencing" of ATP7B as a novel molecular defect in aceruloplasminemia. The possibility to reverse the deleterious effects of some aceruloplasminemia mutations may disclose new possible therapeutic strategies.
- Sapienza University of Rome Italy
- University of Molise Italy
- National Institute for Nuclear Physics Italy
- Roma Tre University Italy
Saccharomyces cerevisiae Proteins, Iron, Mutation, Missense, Gene Expression, Biochemistry, Copper Transport Proteins, Cell Line, Tumor, Animals, Homeostasis, Humans, Gene Silencing, Molecular Biology, Cation Transport Proteins, Metal Metabolism, Inborn Errors, Adenosine Triphosphatases, Ceruloplasmin, Cell Biology, Rats, Amino Acid Substitution, Copper-Transporting ATPases, ceruloplasmin; iron; aceruloplasminemia, Heredodegenerative Disorders, Nervous System, Copper, Protein Binding
Saccharomyces cerevisiae Proteins, Iron, Mutation, Missense, Gene Expression, Biochemistry, Copper Transport Proteins, Cell Line, Tumor, Animals, Homeostasis, Humans, Gene Silencing, Molecular Biology, Cation Transport Proteins, Metal Metabolism, Inborn Errors, Adenosine Triphosphatases, Ceruloplasmin, Cell Biology, Rats, Amino Acid Substitution, Copper-Transporting ATPases, ceruloplasmin; iron; aceruloplasminemia, Heredodegenerative Disorders, Nervous System, Copper, Protein Binding
14 Research products, page 1 of 2
- 2017IsRelatedTo
- 2018IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2009IsAmongTopNSimilarDocuments
- 2017IsRelatedTo
- 2018IsRelatedTo
- 2017IsRelatedTo
chevron_left - 1
- 2
chevron_right
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).38 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
