The DOI matches its Crossref record; 48 of the 48 references it cites were found in a registry or an index.
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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Cites
1 retracted
Ceruloplasmin gene defect associated with epilepsy in EL mice
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RetractedThe Metabolic Basis of Inherited Disease
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The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
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Isolation of a partial candidate gene for Menkes disease by positional cloning
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The FET3 gene of S. cerevisiae encodes a multicopper oxidase required for ferrous iron uptake.
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Andrews, N. C. (1999) · New England Journal of Medicine · doi:10.1056/nejm199912233412607 · Cited by 2,130
Iron, brain ageing and neurodegenerative disorders
Zecca, L., Youdim, M. B. H., Riederer, P., Connor, J. R., & Crichton, R. R. (2004) · Nature Reviews Neuroscience · doi:10.1038/nrn1537 · Cited by 1,801
Copper biochemistry and molecular biology
Linder, M. C., & Hazegh-Azam, M. (1996) · American Journal of Clinical Nutrition · doi:10.1093/ajcn/63.5.797 · Cited by 1,443
Nicolas, G., Bennoun, M., Devaux, I., Beaumont, C., Grandchamp, B., Kahn, A., & Vaulont, S. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.151179498 · Cited by 1,233
Papanikolaou, G., & Pantopoulos, K. (2005) · Toxicology and Applied Pharmacology · doi:10.1016/j.taap.2004.06.021 · Cited by 1,070
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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