Cited by 463Neurological diseases and metabolismIron Metabolism and DisordersTrace Elements in Health

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

Yoshida, Kunihiro, Furihata, Kenichi, Takeda, Shin'ichi, Nakamura, Akinori, Yamamoto, Kanji, Morita, Hiroshi, Hiyamuta, Shuichi, Ikeda, Shu-ichi, Shimizu, Norikazu, Yanagisawa, Nobuo·1995·Nature Genetics

DOI 10.1038/ng0395-267

Open this paper in CoChat — free account

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.

Integrity signals

Registry

Crossref · 10.1038/ng0395-267

Cites

48 of 48 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

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?

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
Retracted
The 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
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase
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
Absorption, transport, and hepatic metabolism of copper and zinc: special reference to metallothionein and ceruloplasmin.
Cousins, R. J. (1985) · Physiological Reviews · doi:10.1152/physrev.1985.65.2.238 · Cited by 1,331
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein
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

Show all 48 references

Sorted by citations

Items 201–300 of 456

Criteria for Early Identification of Aceruloplasminemia
Ogimoto, M., Anzai, K., Takenoshita, H., Kogawa, K., Akehi, Y., Yoshida, R., Nakano, M., Yoshida, K., & Ono, J. (2011) · Internal Medicine · doi:10.2169/internalmedicine.50.5108 · Cited by 48
Self-citation
Interactions of caeruloplasmin with other proteins participating in inflammation
Vasilyev, V. B. (2010) · Biochemical Society Transactions · doi:10.1042/bst0380947 · Cited by 47
Iron in neurodegenerative disorders: being in the wrong place at the wrong time?
Apostolakis, S., & Kypraiou, A.-M. (2017) · Reviews in the Neurosciences · doi:10.1515/revneuro-2017-0020 · Cited by 47
Expression of a membrane‐bound form of the ferroxidase ceruloplasmin by leptomeningeal cells
Mittal, B., Doroudchi, M. M., Jeong, S. Y., Patel, B. N., & David, S. (2003) · Glia · doi:10.1002/glia.10158 · Cited by 47
Copper Transport in Mammals
Linder, M. C., Lomeli, N. A., Donley, S. A., Mehrbod, F., Cerveza, P., Cotton, S., & Wooten, L. (1999) · Advances in experimental medicine and biology · doi:10.1007/978-1-4615-4859-1_1 · Cited by 47
The Effect of Ceruloplasmin on Iron Release from Placental (BeWo) Cells; Evidence for an Endogenous Cu Oxidase
Danzeisen, R., Ponnambalam, S., Lea, R. G., Page, K., Gambling, L., & McArdle, H. J. (2000) · Placenta · doi:10.1053/plac.2000.0582 · Cited by 47
An Update on Iron Metabolism: Summary of the Fifth International Conference on Disorders of Iron Metabolism
Bonkovsky, H. L., Ponka, P., Bacon, B. R., Drysdale, J., Grace, N., & Tavill, A. S. (1996) · Hepatology · doi:10.1002/hep.510240341 · Cited by 47
Non-HFE hemochromatosis: Pathophysiological and diagnostic aspects
Bardou‐Jacquet, E., Ali, Z. B., Beaumont-Epinette, M.-P., Loréal, O., Jouanolle, A., & Brissot, P. (2013) · Clinics and Research in Hepatology and Gastroenterology · doi:10.1016/j.clinre.2013.11.003 · Cited by 47
Copper Deficiency in Liver Diseases: A Case Series and Pathophysiological Considerations
Yu, L., Liou, I. W., Biggins, S. W., Yeh, M. M., Jalikis, F. G., Chan, L., & Burkhead, J. L. (2019) · Hepatology Communications · doi:10.1002/hep4.1393 · Cited by 46
A genetic view of iron homeostasis
Andrews, N. C. (2002) · Seminars in Hematology · doi:10.1053/shem.2002.35632 · Cited by 46
Effects of copper and ceruloplasmin on iron transport in the Caco 2 cell intestinal model
Zerounian, N. R., & Linder, M. C. (2002) · The Journal of Nutritional Biochemistry · doi:10.1016/s0955-2863(01)00205-4 · Cited by 46
Genetic analysis of iron uptake in the yeast Saccharomyces cerevisiae
Dancis, A. (1998) · The Journal of Pediatrics · doi:10.1016/s0022-3476(98)70524-4 · Cited by 45
Microglia and astroglia prevent oxidative stress-induced neuronal cell death: Implications for aceruloplasminemia
Oshiro, S., Kawamura, K., Zhang, C., Sone, T., Morioka, M. S., Kobayashi, S., & Nakajima, K. (2008) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2007.12.002 · Cited by 44
Copper Metalloenzymes
Messerschmidt, A. (2010) · Elsevier eBooks · doi:10.1016/b978-008045382-8.00180-5 · Cited by 44
Dominant Mutants of Ceruloplasmin Impair the Copper Loading Machinery in Aceruloplasminemia
di Patti, M. C. B., Maio, N., Rizzo, G., Francesco, G. D., Persichini, T., Colasanti, M., Polticelli, F., & Musci, G. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m805688200 · Cited by 44
Dystonia and its disorders
Friedman, J., & Standaert, D. G. (2001) · Neurologic Clinics · doi:10.1016/s0733-8619(05)70040-2 · Cited by 44
Expression of ceruloplasmin in the retina: induction after optic nerve crush.
Levin, L. A., & Geszvain, K. (1998) · PubMed · Cited by 43
Copper-mediated LDL oxidation by homocysteine and related compounds depends largely on copper ligation
Nakano, E., Williamson, M. P., Williams, N. H., & Powers, H. J. (2003) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2003.10.005 · Cited by 42
Increased oxysterols associated with iron accumulation in the brains and visceral organs of acaeruloplasminaemia patients
Miyajima, H. (2001) · QJM · doi:10.1093/qjmed/94.8.417 · Cited by 42
Molecular pathogenesis and clinical consequences of iron overload in liver cirrhosis
Sikorska, K., Bernat, A., & Wróblewska, A. (2016) · Hepatobiliary & pancreatic diseases international · doi:10.1016/s1499-3872(16)60135-2 · Cited by 41
Genetic Background of Primary Iron Overload Syndromes in Japan
Hayashi, H., Wakusawa, S., Motonishi, S., Miyamoto, K., Okada, H., Inagaki, Y., & Ikeda, T. (2006) · Internal Medicine · doi:10.2169/internalmedicine.45.1876 · Cited by 40
Retinal Degeneration in Hereditary Ceruloplasmin Deficiency
Yamaguchi, K., Takahashi, S., Kawanami, T., Kato, T., & Sasaki, H. (1997) · Ophthalmologica · doi:10.1159/000027251 · Cited by 40
Familial dementia due to a frameshift mutation in the caeruloplasmin gene
Harris, Z. L., Migas, M. C., Hughes, A., Logan, J. I., & Gitlin, J. D. (1996) · QJM · doi:10.1093/qjmed/89.5.355 · Cited by 40
Analysis of the High-Affinity Iron Uptake System at the Chlamydomonas reinhardtii Plasma Membrane
Terzulli, A., & Kosman, D. J. (2010) · Eukaryotic Cell · doi:10.1128/ec.00310-09 · Cited by 39
Hereditary caeruloplasmin deficiency: clinicopathological study of a patient.
Kawanami, T., Kato, T., Daimon, M., Tominaga, M., Sasaki, H., Maeda, K., Arai, S., Shikama, Y., & Katagiri, T. (1996) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.61.5.506 · Cited by 38
Extensive brain pathology in a patient with aceruloplasminemia with a prolonged duration of illness
Kaneko, K., Hineno, A., Yoshida, K., Ohara, S., Morita, H., & Ikeda, S. (2011) · Human Pathology · doi:10.1016/j.humpath.2011.05.016 · Cited by 37
Self-citation
Inhibition of Endothelial Nitric-oxide Synthase by Ceruloplasmin
Bianchini, A., Musci, G., & Calabrese, L. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.29.20265 · Cited by 36
Effectiveness of oral iron chelator treatment with deferasirox in an aceruloplasminemia patient with a novel ceruloplasmin gene mutation
Suzuki, Y., Yoshida, K., Aburakawa, Y., Kuroda, K., Kimura, T., Terada, T., Kono, S., Miyajima, H., & Yahara, O. (2013) · Internal Medicine · doi:10.2169/internalmedicine.52.0102 · Cited by 35
Self-citation
Mottled Mice and Non-Mammalian Models of Menkes Disease
Lenartowicz, M., Krzeptowski, W., Lipiński, P., Grzmil, P., Starzyński, R. R., Pierzchała, O., & Møller, L. B. (2015) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2015.00072 · Cited by 35
Clinical aspects of hemochromatosis
Brissot, P., Guyader, D., Loréal, O., Lainé, F., Guillygomarc’h, A., Moirand, R., & Deugnier, Y. (2000) · Transfusion Science · doi:10.1016/s0955-3886(00)00088-6 · Cited by 35
Structure and expression of genes involved in transport and storage of iron in red-blooded and hemoglobin-less antarctic notothenioids
Scudiero, R., Trinchella, F., Riggio, M., & Parisi, E. (2007) · Gene · doi:10.1016/j.gene.2007.03.003 · Cited by 33
Iron and Copper Interact during Their Uptake and Deposition in the Brain and Other Organs of Developing Rats Exposed to Dietary Excess of the Two Metals
Crowe, A. P., & Morgan, E. H. (1996) · Journal of Nutrition · doi:10.1093/jn/126.1.183 · Cited by 33
Iron loading inhibits ferroportin1 expression in PC12 cells
Chen, Y., Qian, Z., Du, J., Duan, X., Chang, Y., Wang, Q. L., Wang, C., Ma, Y. M., Xu, Y., Li, L., et al. (2005) · Neurochemistry International · doi:10.1016/j.neuint.2005.06.004 · Cited by 33
Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3
Shimohata, T., Hara, K., Sanpei, K., Nunomura, J., Maeda, T., Kawachi, I., Kanazawa, M., Kasuga, K., Miyashita, A., Kuwano, R., et al. (2007) · Brain · doi:10.1093/brain/awm036 · Cited by 33
Premalignant lesions and hepatocellular carcinoma in a non-cirrhotic alcoholic patient with iron overload and normal transferrin saturation
Blanc, J. F., de Lédinghen, V., Trimoulet, P., Bail, B. L., Bernard, P., Saric, J., Balabaud, C. P., & Bioulac‐Sage, P. (1999) · Journal of Hepatology · doi:10.1016/s0168-8278(99)80080-4 · Cited by 33
Aceruloplasminemia in an asymptomatic patient with a new mutation. Diagnosis and family genetic analysis
Pérez-Aguilar, F., Burguera, J. A., Benlloch, S., Berenguer, M., & Rayón, J. M. (2005) · Journal of Hepatology · doi:10.1016/j.jhep.2005.02.013 · Cited by 32
Molecular Cloning of the Mouse Apolipoprotein D Gene and Its Upregulated Expression in Niemann-Pick Disease Type C Mouse Model
Yoshida, K., Cleaveland, E. S., Nagle, J. W., FRENCH, S., Yaswen, L. R., Ohshima, T., Brady, R. O., Pentchev, P. G., & Kulkarni, A. B. (1996) · DNA and Cell Biology · doi:10.1089/dna.1996.15.873 · Cited by 32
Self-citation
Studies of the ceruloplasmin-lactoferrin complex
Pulina, M. O., Zakharova, E. T., Av, S., Shavlovski, M. M., Bass, M. G., Solovyov, K. V., Kokryakov, V. N., & Vasilyev, V. B. (2002) · Biochemistry and Cell Biology · doi:10.1139/o01-206 · Cited by 32
Hereditary hemochromatosis: recent advances in molecular genetics and clinical management.
Camaschella, C., & Piperno, A. (1997) · PubMed · Cited by 32
Effect of lactoferrin on oxidative features of ceruloplasmin
Av, S., Ageeva, K. V., Pulina, M. O., Zakharova, E. T., & Vasilyev, V. B. (2009) · BioMetals · doi:10.1007/s10534-009-9209-4 · Cited by 31
Clinical, molecular, and PET study of a case of aceruloplasminaemia presenting with focal cranial dyskinesia
Haemers, I. (2004) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2003.017434 · Cited by 30
Aceruloplasminemia with Juvenile-onset Diabetes Mellitus Caused by Exon Skipping in the Ceruloplasmin Gene
HATANAKA, Y., Okano, T., Oda, K., Yamamoto, K., & Yoshida, K. (2003) · Internal Medicine · doi:10.2169/internalmedicine.42.599 · Cited by 30
Self-citation
Hemochromatosis after the gene discovery: revisiting the diagnostic strategy
Brissot, P., Moirand, R., Guyader, D., Loréal, O., Turlin, B., & Deugnier, Y. (1998) · Journal of Hepatology · doi:10.1016/s0168-8278(98)80369-3 · Cited by 30
Response of plasma copper, ceruloplasmin, iron and ions in carp, Cyprinus carpio to waterborne copper ion and nanoparticle exposure
Hedayati, A., Hoseini, S. M., & Hoseinifar, S. H. (2015) · Comparative Biochemistry and Physiology Part C Toxicology & Pharmacology · doi:10.1016/j.cbpc.2015.09.007 · Cited by 29
Biochemistry and Molecular Biology of Copper in Mammals
Linder, M. C. (2002) · Humana Press eBooks · doi:10.1007/978-1-59259-288-3_1 · Cited by 29
Hereditary hemochromatosis: progress and perspectives
Camaschella, C., Gobbi, M. D., & Roetto, A. (2000) · Reviews in Clinical and Experimental Hematology · doi:10.1046/j.1468-0734.2000.00022.x · Cited by 29
Hemochromatosis 1988: is one gene enough?
Pietrangelo, A. (1998) · Journal of Hepatology · doi:10.1016/s0168-8278(98)80074-3 · Cited by 29
Excess Copper Chelating Therapy for Wilson Disease Induces Anemia and Liver Dysfunction
Harada, M., Miyagawa, K., Honma, Y., Hiura, M., Shibata, M., Matsuhashi, T., Abe, S., Harada, R., & Tabaru, A. (2011) · Internal Medicine · doi:10.2169/internalmedicine.50.5209 · Cited by 28
Evidence for the molten globule state of human apo-ceruloplasmin
Filippis, V. D., Vassiliev, V. B., Beltramini, M., Fontana, A., Salvato, B., & Gaĭtskhoki, V. S. (1996) · Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology · doi:10.1016/s0167-4838(96)00139-2 · Cited by 28
A Novel Mutation of the Ceruloplasmin Gene in a Patient with Heteroallelic Ceruloplasmin Gene Mutation (HypoCPGM)
Daimon, M., Susa, S., Ohizumi, T., Moriai, S., Kawanami, T., Hirata, A., Yamaguchi, H., Ohnuma, H., Igarashi, M., & Kato, T. (2000) · The Tohoku Journal of Experimental Medicine · doi:10.1620/tjem.191.119 · Cited by 28
Effects of zinc deficiency on immune functions
Prasad, A. S. (2000) · The Journal of Trace Elements in Experimental Medicine · doi:10.1002/(sici)1520-670x(2000)13:1 · Cited by 87
Advances of the mechanism for copper tolerance in plants
Wang, Y., Chen, X., & Chen, J. (2024) · Plant Science · doi:10.1016/j.plantsci.2024.112299 · Cited by 27
Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings
Khalifa, M., & Naffaa, L. N. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.05.009 · Cited by 27
Role of soluble ceruloplasmin in iron uptake by midbrain and hippocampus neurons
Ke, Y., Ho, K., Jin-rong, D., Zhu, L., Xu, Y., Wang, Q., Wang, C. Y., Li, L., Ge, X., Chang, Y. Z., et al. (2006) · Journal of Cellular Biochemistry · doi:10.1002/jcb.20740 · Cited by 27
Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome
Krähenbühl, S., Kleinle, S., Henz, S., Leibundgut, K., Liechti, S., Zimmermann, A., & WIESMANN, U. N. (1999) · Journal of Hepatology · doi:10.1016/s0168-8278(99)80050-6 · Cited by 27
Stimulation of the Ferroxidase Activity of Ceruloplasmin during Iron Loading into Ferritin
Reilly, C. A., & Aust, S. D. (1997) · Archives of Biochemistry and Biophysics · doi:10.1006/abbi.1997.0351 · Cited by 27
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system
Hsi, G., Cullen, L. M., MacIntyre, G., Chen, M. M., Glerum, D. M., & Cox, D. W. (2008) · Human Mutation · doi:10.1002/humu.20674 · Cited by 26
Expression of recombinant human ceruloplasmin – an absolute requirement for splicing signals in the expression cassette
Rafiq, M., Suen, C. K. M., Choudhury, N., Joannou, C. L., White, K., & Evans, R. W. (1997) · FEBS Letters · doi:10.1016/s0014-5793(97)00325-6 · Cited by 26
Defective electron transfer in complexes I and IV in patients with aceruloplasminemia
Kohno, S., Miyajima, H., Takahashi, Y., Suzuki, H., & Hishida, A. (2000) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(00)00452-4 · Cited by 25
Comparative Analysis of Tocopherol Biosynthesis Genes and Its Transcriptional Regulation in Soybean Seeds
Vinutha, T., Bansal, N., Kumari, K., Rama Prashat, G., Sreevathsa, R., Krishnan, V., Kumari, S., Dahuja, A., LAL, S. K., Sachdev, A., et al. (2017) · Journal of Agricultural and Food Chemistry · doi:10.1021/acs.jafc.7b03448 · Cited by 24
Novel mutation in the ceruloplasmin gene causing a cognitive and movement disorder with diabetes mellitus
Shang, H., Jiang, X., Burgunder, J., Chen, Q., & Zhou, D. (2006) · Movement Disorders · doi:10.1002/mds.21121 · Cited by 24
Serum ceruloplasmin and ferroxidase activity are decreased in HFE C282Y homozygote male iron-overloaded patients
Lainé, F., Ropert, M., Lan, C. L., Loréal, O., Bellissant, É., Jard, C., Pouchard, M., Treut, A. L., & Brissot, P. (2002) · Journal of Hepatology · doi:10.1016/s0168-8278(01)00254-9 · Cited by 24
Iron overload disorders
Turlin, B., & Deugnier, Y. (2002) · Clinics in Liver Disease · doi:10.1016/s1089-3261(02)00004-1 · Cited by 24
Iron, HFE , and Hemochromatosis Update
Cuthbert, J. A. (1997) · Journal of Investigative Medicine · doi:10.1177/108155899704500907 · Cited by 24
Increased vulnerability to rotenone-induced neurotoxicity in ceruloplasmin-deficient mice
Kaneko, K., Hineno, A., Yoshida, K., & Ikeda, S. (2008) · Neuroscience Letters · doi:10.1016/j.neulet.2008.08.089 · Cited by 23
Self-citation
Copper chelation and interleukin-6 proinflammatory cytokine effects on expression of different proteins involved in iron metabolism in HepG2 cell line
Bella, L. M. D., Alampi, R., Biundo, F., Toscano, G., & Felice, M. R. (2017) · BMC Biochemistry · doi:10.1186/s12858-017-0076-2 · Cited by 23
Juvenile Hemochromatosis in the Southeastern United States: A Report of Seven Cases in Two Kinships
Barton, J. C., Rao, S. V., Pereira, N. M., Gelbart, T., Beutler, E., Rivers, C. A., & Acton, R. T. (2002) · Blood Cells Molecules and Diseases · doi:10.1006/bcmd.2002.0545 · Cited by 23
Evidence for a Protein–Protein Complex during Iron Loading into Ferritin by Ceruloplasmin
Reilly, C. A., Sørlie, M., & Aust, S. D. (1998) · Archives of Biochemistry and Biophysics · doi:10.1006/abbi.1998.0672 · Cited by 23
Chloride Control of the Mechanism of Human Serum Ceruloplasmin (Cp) Catalysis
Tian, S., Jones, S. M., Jose, A., & Solomon, E. I. (2019) · Journal of the American Chemical Society · doi:10.1021/jacs.9b03661 · Cited by 22
Ferroportin1 in the brain
Qian, Z., Li, W., & Guo, Q. (2023) · Ageing Research Reviews · doi:10.1016/j.arr.2023.101961 · Cited by 22
Ceruloplasmin is Involved in the Nigral Iron Accumulation of 6-OHDA-Lesioned Rats
Wang, J., Bi, M., & Xie, J. (2015) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-015-0161-2 · Cited by 22
Islet changes in hereditary ceruloplasmin deficiency
Kato, T., Daimon, M., Kawanami, T., Ikezawa, Y., Sasaki, H., & Maeda, K. (1997) · Human Pathology · doi:10.1016/s0046-8177(97)90041-1 · Cited by 22
Iron Loading into Ferritin by an Intracellular Ferroxidase
Reilly, C. A., & Aust, S. D. (1998) · Archives of Biochemistry and Biophysics · doi:10.1006/abbi.1998.0891 · Cited by 22
Iron Pathophysiology in Neurodegeneration with Brain Iron Accumulation
Levi, S., Cozzi, A., & Santambrogio, P. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-981-13-9589-5_9 · Cited by 21
Cloning and expression analysis of the sheep ceruloplasmin cDNA
Lockhart, P. J., & Mercer, J. F. B. (1999) · Gene · doi:10.1016/s0378-1119(99)00276-0 · Cited by 21
Increased very long-chain fatty acids in erythrocyte membranes of patients with aceruloplasminemia
Miyajima, H., Adachi, J., Tatsuno, Y., Takahashi, Y., Fujimoto, M., Kaneko, E., & Gitlin, J. D. (1998) · Neurology · doi:10.1212/wnl.50.1.130 · Cited by 21
Late Onset Diabetes Mellitus in Patients with Hereditary Aceruloplasminemia.
Miyajima, H., Takahashi, Y., Shimizu, H., Sakai, N., Kamata, T., & Kaneko, E. (1996) · Internal Medicine · doi:10.2169/internalmedicine.35.641 · Cited by 21
Données récentes sur le métabolisme du fer : un état de transition
Cadet, E., Gadenne, M., Capron, D., & Rochette, J. (2004) · La Revue de Médecine Interne · doi:10.1016/j.revmed.2004.09.024 · Cited by 20
HFE gene mutations and iron metabolism in Wilson's disease
Erhardt, A., Hoffmann, A. O., Hefter, H., & Häussinger, D. (2002) · Liver International · doi:10.1034/j.1600-0676.2002.01732.x · Cited by 20
Genetic Disorders Affecting Proteins of Iron and Copper Metabolism: Clinical Implications.
Miyajima, H. (2002) · Internal Medicine · doi:10.2169/internalmedicine.41.762 · Cited by 20
Diseases of iron metabolism
Hagar, W., Theil, E. C., & Vichinsky, E. P. (2002) · Pediatric Clinics of North America · doi:10.1016/s0031-3955(02)00028-7 · Cited by 19
Functional link between ferroxidase activity of ceruloplasmin and protective effect of apo-lactoferrin: studying rats kept on a silver chloride diet
Kostevich, V. A., Av, S., Kozlov, S. O., Vlasenko, A. Y., Kolmakov, N. N., Zakharova, E. T., & Vasilyev, V. B. (2016) · BioMetals · doi:10.1007/s10534-016-9944-2 · Cited by 19
Massive hepatic haemosiderosis in Wilson's disease
Luca, P., Demelia, L., Lecca, S., Ambu, R., & Faa, G. (2000) · Histopathology · doi:10.1046/j.1365-2559.2000.00985-2.x · Cited by 19
Clinical relevance of heterozygosis for aceruloplasminemia
Borges, M. D., de Albuquerque, D. M., Lanaro, C., Costa, F. F., & Fertrin, K. Y. (2019) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32723 · Cited by 17
Intracranial iron distribution and quantification in aceruloplasminemia: A case study
Zhou, L., Chen, Y., Li, Y., Gharabaghi, S., Chen, Y., Sethi, S. K., Wu, Y., & Haacke, E. M. (2020) · Magnetic Resonance Imaging · doi:10.1016/j.mri.2020.02.016 · Cited by 17
Biochemical Features of Ceruloplasmin Gene Mutations Linked to Aceruloplasminemia
Kono, S., Suzuki, H., Oda, T., Miyajima, H., Takahashi, Y., Shirakawa, K., Ishikawa, K., & Kitagawa, M. (2006) · NeuroMolecular Medicine · doi:10.1385/nmm:8:3:361 · Cited by 17
Lexikon der Syndrome und Fehlbildungen
Witköwski, R., Prokop, O., & Ullrich, E. (1999) · Springer eBooks · doi:10.1007/978-3-642-98007-7_6 · Cited by 17
Hereditary Hemochromatosis
Ferrara, F., Corradini, E., & Pietrangelo, A. (2007) · Humana Press eBooks · doi:10.1007/978-1-59259-963-9_54 · Cited by 17
Cognitive impairment in “Other” movement disorders: Hidden defects and valuable clues
Walterfang, M., & van de Warrenburg, B. P. C. (2014) · Movement Disorders · doi:10.1002/mds.25849 · Cited by 16
Aceruloplasminemia with Abnormal Compound Heterozygous Mutations Developed Neurological Dysfunction during Phlebotomy Therapy
WATANABE, M., Ohyama, K., Suzuki, M., Nosaki, Y., Hara, T., Iwai, K., Kono, S., Miyajima, H., & Mokuno, K. (2018) · Internal Medicine · doi:10.2169/internalmedicine.9855-17 · Cited by 16
Ceruloplasmin deletion in myelinating glial cells induces myelin disruption and oxidative stress in the central and peripheral nervous systems
González, D. A. S., Cheli, V. T., Rosenblum, S. L., Denaroso, G., & Paez, P. M. (2021) · Redox Biology · doi:10.1016/j.redox.2021.102118 · Cited by 16
Ceruloplasmin and atrial fibrillation: evidence of causality from a population‐based Mendelian randomization study
Eryd, S. A., Sjögren, M., Smith, J. G., Nilsson, P. M., Melander, O., Hedblad, B., & Engström, G. (2013) · Journal of Internal Medicine · doi:10.1111/joim.12144 · Cited by 16
Movement disorder due to aceruloplasminemia and incorrect diagnosis of hereditary hemochromatosis
Fasano, A. A., Bentivoglio, A. R., & Colosimo, C. (2007) · Journal of Neurology · doi:10.1007/s00415-006-0289-6 · Cited by 16
Dietary Iron Status Has Little Effect on Expression of Ceruloplasmin but Alters That of Ferritin in Rats
Tran, T. B., Ashraf, M., Jones, L., Westbrook, T., Hazegh-Azam, M., & Linder, M. C. (2002) · Journal of Nutrition · doi:10.1093/jn/132.3.351 · Cited by 16
Copper in mammals: mechanisms of homeostasis and pathophysiology
Cater, M. A., & Mercer, J. F. B. (2005) · Topics in current genetics · doi:10.1007/4735_101 · Cited by 15
Genomic and structural investigation on dolphin morbillivirus (DMV) in Mediterranean fin whales (Balaenoptera physalus)
Beffagna, G., Centelleghe, C., Franzo, G., Guardo, G. D., & Mazzariol, S. (2017) · Scientific Reports · doi:10.1038/srep41554 · Cited by 15
The effect of copper deficiency on the formation of hemosiderin in sprague-dawley rats
Welch, K. D., Hall, J. O., Davis, T. Z., & Aust, S. D. (2007) · BioMetals · doi:10.1007/s10534-006-9046-7 · Cited by 15
Coexistence of Copper in the Iron-Rich Particles of Aceruloplasminemia Brain
Yoshida, K., Hayashi, H., Wakusawa, S., Shigemasa, R., Koide, R., Ishikawa, T., Tatsumi, Y., Kato, K., Ohara, S., & Ikeda, S. (2016) · Biological Trace Element Research · doi:10.1007/s12011-016-0744-x · Cited by 14
Self-citation
Ceruloplasmin expression and its role in iron transport in C6 cells
Chang, Y. Z., Qian, Z., Du, J. R., Zhu, L., Xu, Y., Li, L., Wang, C., Wang, Q., Ge, X. H., Ho, K. P., et al. (2007) · Neurochemistry International · doi:10.1016/j.neuint.2007.01.004 · Cited by 14
Copper- and Iron-rich Matrices in Hepatocellular Lipofuscin Particles of a Young Male Patient: Diagnostic Ultrastructures for Wilson Disease
Motonishi, S., Hayashi, H., Fujita, Y., Okada, H., Kusakabe, A., Ito, M., Miyamoto, K., & Ueno, T. (2006) · Ultrastructural Pathology · doi:10.1080/01913120600854327 · Cited by 14

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)
ORCID: Yoshida, Kunihiro
Furihata, Kenichi
Takeda, Shin'ichi
Nakamura, Akinori
Morita, Hiroshi
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 1995-03
Volume: 9
Issue: 3
Pages: 267-272
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng0395-267
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

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Citations

Cites

Cited by

Related

Metadata

Record

About these checks