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A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans
Abstract
We identified a mutation in the ceruloplasmin (Cp) gene in a Japanese family with aceruloplasminemia, some of whose members showed extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. A post-mortem study of the proband revealed excessive iron deposition mainly in the brain, liver and pancreas. The G to A transition at the splice acceptor site introduces a premature termination codon at the amino acid position 991 by defective splicing, thereby truncating the carboxyl terminus of Cp in affected individuals. We conclude that the mutation in the Cp gene is associated with systemic hemosiderosis in humans.
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“The importance of these oxidases for successful iron export into the circulation has been demonstrated with gene-ablation murine models as well as identification of patients deficient in CP and HEPH, presenting with iron-deficient anemia (Yoshida et al., 1995; Hahn et al., 2004).”
From The Role of Iron Regulation in Immunometabolism and Immune-Related Disease (2019) · cites this paper as Yoshida et al., 1995
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Metadata
- Authors
- Yoshida, K., Furihata, K., Takeda, S., Nakamura, A., Yamamoto, K., Morita, H., Hiyamuta, S., Ikeda, S.-I., Shimizu, N., & Yanagisawa, N.
- Affiliations
- Shinshu University (JP)
- National Center of Neurology and Psychiatry (JP)
- Idemitsu Kosan (Japan) (JP)
- Toho University (JP)
- Venue
- Nature Genetics
- Published
- 1995-03
- Volume
- 9
- Issue
- 3
- Pages
- 267-272
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2029443758
- Cited by
- 463
- References
- 48
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 5 · 2023: 3 · 2022: 4 · 2021: 16 · 2020: 8 · 2019: 17 · 2018: 10 · 2017: 11 · 2016: 12 · 2015: 8 · 2014: 17 · 2013: 11 · 2012: 9
- FWCI
- 15.77
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Health Sciences › Nursing › Nutrition and Dietetics › Trace Elements in Health
- Keywords
- ceruloplasmin, aceruloplasminemia, genetic mutations, splice site mutation, premature stop codon, iron accumulation, extrapyramidal disorders, cerebellar ataxia, diabetes mellitus
- MeSH terms
- Amino Acid Sequence, Base Sequence, Ceruloplasmin, DNA Mutational Analysis, Female, Genotype, Hemosiderosis, Humans, Liver, Male, Molecular Sequence Data, Mutation, Pedigree, RNA, Polymerase Chain Reaction, Alternative Splicing, DNA Primers, DNA, Complementary
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