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.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“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
Citations
Cites
1 retracted
Ceruloplasmin gene defect associated with epilepsy in EL mice
Garey, C. E., Schwarzman, A. L., Rise, M. L., & Seyfried, T. N. (1994) · Nature Genetics · doi:10.1038/ng0494-426 · Cited by 22
RetractedThe Metabolic Basis of Inherited Disease
(1990) · Annals of Internal Medicine · doi:10.7326/0003-4819-112-5-389_2 · Cited by 3,990
The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene
Bull, P. C., Thomas, G. R., Rommens, J. M., Forbes, J., & Cox, D. W. (1993) · Nature Genetics · doi:10.1038/ng1293-327 · Cited by 1,939
Vulpe, C. D., Levinson, B., Whitney, S., Packman, S., & Gitschier, J. M. (1993) · Nature Genetics · doi:10.1038/ng0193-7 · Cited by 1,412
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
Tanzi, R. E., Petrukhin, K. E., Чернов, И. П., Pellequer, J., Wasco, W., Ross, B., Romano, D., Parano, E., Pavone, P., Brzustowicz, L. M., et al. (1993) · Nature Genetics · doi:10.1038/ng1293-344 · Cited by 1,367
Cousins, R. J. (1985) · Physiological Reviews · doi:10.1152/physrev.1985.65.2.238 · Cited by 1,331
Chelly, J., Tümer, Z., Tønnesen, T., Petterson, A., Ishikawa-Brush, Y., Tommerup, N., Horn, N., & Monaco, A. P. (1993) · Nature Genetics · doi:10.1038/ng0193-14 · Cited by 718
Isolation of a partial candidate gene for Menkes disease by positional cloning
Mercer, J. F. B., Livingston, J., Hall, B., Paynter, J. A., Begy, C. R., Chandrasekharappa, S. C., Lockhart, P. J., Grimes, A., Bhave, M. R., Siemieniak, D. R., et al. (1993) · Nature Genetics · doi:10.1038/ng0193-20 · Cited by 693
The possible significance of the ferrous oxidase activity of ceruloplasmin in normal human serum.
Osaki, S., Johnson, D. A., & Frieden, E. (1966) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)96527-0 · Cited by 679
The FET3 gene of S. cerevisiae encodes a multicopper oxidase required for ferrous iron uptake.
Askwith, C., Eide, D., Van Ho, A., Bernard, P. S., Li, L., Davis-Kaplan, S., Sipe, D. M., & Kaplan, J. (1994) · Cell · doi:10.1016/0092-8674(94)90346-8 · Cited by 670
Cited by
Sorted by citations
Items 401–456 of 456
Genetic Disorders of Trace Element Metabolism
Anderson, G. J., & McLaren, G. D. (2000) · Humana Press eBooks · doi:10.1007/978-1-59259-040-7_12 · Cited by 1
[The molecular genetics of hematochromatosis].
Rosmorduc, O., Hermelin, B., & Poupon, R. Y. (2002) · PubMed · Cited by 1
Metabolic disorders and storage diseases
Kuntz, E., & Kuntz, H.-D. (2002) · Springer eBooks · doi:10.1007/978-3-662-04680-7_31 · Cited by 1
Lindley, P. F. (2004) · Wiley eBooks · doi:10.1002/0470028637.met200 · Cited by 1
Mechanisms of Copper Deficiency in the Zebrafish Embryo
Madsen, E. C. (2010) · PubMed Central · doi:10.7936/k79c6vdt
Miscellaneous Iron-Related Disorders
Beaumont, C. (2011) · Humana Press eBooks · doi:10.1007/978-1-60327-485-2_21
Le microcitosi nel bambino: classificazione e approccio diagnostico
Sciotto, A., Furia, V., & Munda, S. (2001) · Medico e Bambino
Iron overload (with attention to genetic testing and diagnosis/management of HFE wild type patients)
Siddaiah, N. B., & Kowdley, K. V. (2006) · Current Treatment Options in Gastroenterology · doi:10.1007/s11938-006-0001-z
Ceruloplasmin and Catalase Activites in Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma
Mumcuoğlu, T., Demirdöğen, B. C., Ceylan, O. M., Işıkoğlu, S., & Erel, Ö. (2013) · Turkiye Klinikleri Journal of Medical Sciences · doi:10.5336/medsci.2012-33097
Aceroluplasminemia, una nueva enfermedad por acumulación de hierro
Pérez-Aguilar, F. (2002) · Gastroenterología y Hepatología · doi:10.1016/s0210-5705(02)70247-1
Regulation of hepcidin and hemojuvelin expression and their role in iron homeostasis
Salama, M. (2010) · UCL Discovery (University College London)
IRON OVERLOAD: CAUSES, CONSEQUENCES, AND CONTROL
Bentley, D. P. (2014) · DOAJ (DOAJ: Directory of Open Access Journals)
D ISORDERS OF I RON M ETABOLISM
Ancy, N., & Ndrews, C. A. (1999)
IRON METABOLISM: Clinical Implications
Sheth, S., & Brittenham, G. M. (2000)
Carcinome hépatocellulaire et maladie ferroportine
Chaze, I., & BLANC, P. (2010) · OpenGrey (Institut de l'Information Scientifique et Technique)
Hemocromatosis hereditaria. Actualización
García, G. B., Arberas, M. V. E., Espiñeira, J. U., Prieto, T. P., & Errasti, C. A. (2002) · Gaceta Médica de Bilbao · doi:10.1016/s0304-4858(02)74396-5
Thuret, I., Fossat, C., & Perrimond, H. (2006) · EMC - Pédiatrie - Maladies infectieuses · doi:10.1016/s1637-5017(06)74490-8
Human ceruloplasmin and neurotransmitters: complex stabilization and crystallization
Moutinho, D. (2013) · Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)
Other Adult-Onset Movement Disorders with a Genetic Basis
Sutton, J. P. (2003) · Elsevier eBooks · doi:10.1016/b978-012566652-7/50046-0
Vanderci Borges and Roberta Arb Saba
Borges, V., & Saba, R. A. (2014)
Okkeri, J. (2004) · Työväentutkimus Vuosikirja
Surcharges en fer génétiques : atypies de l’acéruloplasminémie héréditaire
Loréal, O. (2019) · Bulletin de l Académie Nationale de Médecine · doi:10.1016/j.banm.2019.05.013
Voynova, I. V., Kostevich, V. A., Elizarova, A. Y., Karpenko, M. N., & Av, S. (2020) · Medical academic journal · doi:10.17816/maj19088
The role of biometals in the neuropathology of Parkinson’s disease
Genoud, S. (2020) · The Sydney eScholarship Repository (The University of Sydney)
Петрович, К. А., Gubina, A. E., Aleksandrovna, K. A., & Orlova, E. V. (2021) · SCIENTIFIC MEDICAL BULLETIN OF UGRA · doi:10.25017/2306-1367-2021-29-3-30-35
Eden, M. E. V., & Aust, S. D. (2002) · Wiley eBooks · doi:10.1002/0471203076.emm0217
Александровна, И. Н., Ragozina, O. V., Eskindyrova, Z. B., Gainutdinova, Y. O., & Shevnin, I. A. (2021) · SCIENTIFIC MEDICAL BULLETIN OF UGRA · doi:10.25017/2306-1367-2021-29-3-19-27
Shevnin, I. A., Ragozina, O. V., Ilyushenko, N. A., & Рагозин, О. Н. (2021) · SCIENTIFIC MEDICAL BULLETIN OF UGRA · doi:10.25017/2306-1367-2021-29-3-36-43
Shalamova, E. Y., & Рагозин, О. Н. (2021) · SCIENTIFIC MEDICAL BULLETIN OF UGRA · doi:10.25017/2306-1367-2021-29-3-53-61
Islamova, D. I., Yulusheva, D. A., Shaikhutdinova, E. S., Gubina, A. E., Zuevskaya, T. V., & Sadrieva, E. V. (2021) · SCIENTIFIC MEDICAL BULLETIN OF UGRA · doi:10.25017/2306-1367-2021-29-3-28-29
Shalamova, E. Y., & Рагозин, О. Н. (2021) · SCIENTIFIC MEDICAL BULLETIN OF UGRA · doi:10.25017/2306-1367-2021-29-3-44-52
Pietrangelo, A. (2007) · Wiley eBooks · doi:10.1002/9780470691861.ch16b
Wilson disease: practical applications of molecular approaches
Cox, D. W. (2007) · Springer eBooks · doi:10.1007/978-1-4020-6393-0_8
Ekmekçioğlu, C. (2006) · Springer eBooks · doi:10.1007/3-211-35107-8_1
Witköwski, R., Prokop, O., Ullrich, E., & Thiel, G. (2003) · Springer eBooks · doi:10.1007/978-3-642-55694-4_5
Metabolic disorders and storage diseases
(2006) · Springer eBooks · doi:10.1007/3-540-28977-1_31
Lackner, C., & Knisely, A. S. (2020) · Pathologie · doi:10.1007/978-3-642-04557-8_4
Borges, V., & Saba, R. A. (2014) · Springer eBooks · doi:10.1007/978-1-4471-6455-5_9
Lindley, P. F. (2004) · Wiley eBooks · doi:10.1002/9781119951438.eibc0627
Hosoi, Y., & Miyajima, H. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813955-4.00049-0
Eden, M. E. V., & Aust, S. D. (2002) · Wiley eBooks · doi:10.1002/0471203076.emm0573
Crichton, R. R., & Ward, R. J. (2013) · Wiley eBooks · doi:10.1002/9781118553480.ch13
Thuret, I., Fossat, C., & Perrimond, H. (2006) · EMC - Pediatría · doi:10.1016/s1245-1789(06)45254-9
Determination of Ceruloplasmin Ferroxidase Activity, Iron & Transferrin in Patients with Brain Tumor
Hasan, H. R., & Rozoqi, S. S. (2023) · AMERICAN JOURNAL OF NEUROLOGY RESEARCH · doi:10.52106/2837-7761.1008
THE ROLE OF CERULOPLASMIN IN COLITIS
Bakhautdin, B. (2010) · EngagedScholarship @ Cleveland State University (Cleveland State University)
Unexplained Coexisting Injury of the Liver, Pancreas, and Brain
Wang, R., Chen, J., & Li, X. (2026) · Gastroenterology · doi:10.1053/j.gastro.2025.12.031
History of iron overload disorders
Barton, J. C., Edwards, C. Q., Phatak, P. D., Britton, R. S., & Bacon, B. R. (2010) · Cambridge University Press eBooks · doi:10.1017/cbo9780511777035.003
Surcharges en fer rares d’origine génétique : caractérisation clinique, fonctionnelle, et biologique
Bardou‐Jacquet, E. (2013) · theses.fr (ABES) · doi:10.70675/99eb557fz5edcz4fdezbd26z84ca08eab5aa
Djebrani‐Oussedik, N. (2018) · theses.fr (ABES) · doi:10.70675/d9b346b4z5fffz44dczb940z00adef6986f1
Bories, G. F. P. (2011) · theses.fr (ABES) · doi:10.70675/81757398zf42fz45dcz8424z3f14e050bfb4
Iron metabolism and genetic modifiers in thalassemia and sickle cell anemia
Alıyeva, G., Levin, C., Shirinova, A., Peretz, S., Livshits, L., & Koren, A. (2026) · Academia Medicine and Health · doi:10.20935/acadmedhealth8247
Genetic and neuropathological study of primary and secondary dystonic syndromes
Paudel, R. (2015) · UCL Discovery (University College London)
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
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review