Copper and iron disorders of the brain

Hepcidin Regulates Cellular Iron Efflux by Binding to Ferroportin and Inducing Its Internalization

Nemeth, E., Tuttle, M. S., Powelson, J., Vaughn, M. B., Donovan, A., Ward, D. M., Ganz, T., & Kaplan, J. (2004) · Science · doi:10.1126/science.1104742 · Cited by 4,803 · see citing works

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 · see citing works

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 · see citing works

Balancing Acts

Hentze, M. W., Muckenthaler, M. U., & Andrews, N. C. (2004) · Cell · doi:10.1016/s0092-8674(04)00343-5 · Cited by 1,736 · see citing works

Undetectable Intracellular Free Copper: The Requirement of a Copper Chaperone for Superoxide Dismutase

Rae, T., Schmidt, P. J., Pufahl, R. A., Culotta, V., & O’Halloran, T. V. (1999) · Science · doi:10.1126/science.284.5415.805 · Cited by 1,628 · see citing works

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 · see citing works

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 · see citing works

The cellular prion protein binds copper in vivo

Brown, D. R., Qin, K., Herms, J., Madlung, A., Manson, J., Strome, R., Fraser, P., Kruck, T., von Bohlen, A., Schulz-Schaeffer, W., et al. (1997) · Nature · doi:10.1038/37783 · Cited by 1,300 · see citing works

Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse

Vulpe, C. D., Kuo, Y.-M., Murphy, T. L., Cowley, L., Askwith, C., Libina, N., Gitschier, J., & Anderson, G. J. (1999) · Nature Genetics · doi:10.1038/5979 · Cited by 1,084 · see citing works

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

Dürr, A., Cossee, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., Mandel, J.-L., Brice, A., & Koenig, M. (1996) · New England Journal of Medicine · doi:10.1056/nejm199610173351601 · Cited by 1,071 · see citing works

The role of iron regulatory proteins in mammalian iron homeostasis and disease

Rouault, T. A. (2006) · Nature Chemical Biology · doi:10.1038/nchembio807 · Cited by 1,055 · see citing works

Imaging iron stores in the brain using magnetic resonance imaging

Haacke, E. M., Cheng, N. Y. C., House, M. J., Liu, Q., Neelavalli, J., Ogg, R. J., Khan, A., Ayaz, M., Kirsch, W., & Obenaus, A. (2005) · Magnetic Resonance Imaging · doi:10.1016/j.mri.2004.10.001 · Cited by 995 · see citing works

Activation of synaptic NMDA receptors induces membrane insertion of new AMPA receptors and LTP in cultured hippocampal neurons.

Lu, W.-Y., Man, H.-Y., Ju, W., Trimble, W., Macdonald, J., & Wang, Y.-T. (2001) · Neuron · doi:10.1016/s0896-6273(01)00194-5 · Cited by 978 · see citing works

Long-lasting neural and behavioral effects of iron deficiency in infancy

Lozoff, B., Beard, J., Connor, J., Felt, B., Georgieff, M., & Schallert, T. (2006) · Nutrition Reviews · doi:10.1301/nr.2006.may.s34-s43 · Cited by 975 · see citing works

C ERULOPLASMIN M ETABOLISM AND F UNCTION

Hellman, N. E., & Gitlin, J. D. (2002) · Annual Review of Nutrition · doi:10.1146/annurev.nutr.22.012502.114457 · Cited by 930 · see citing works

Regulation of Mitochondrial Iron Accumulation by Yfh1p, a Putative Homolog of Frataxin

Babcock, M., de Silva, D., Oaks, R., Davis-Kaplan, S., Jiralerspong, S., Montermini, L., Pandolfo, M., & Kaplan, J. (1997) · Science · doi:10.1126/science.276.5319.1709 · Cited by 921 · see citing works

The Role of Copper in Neurodegenerative Disease

Waggoner, D., Bartnikas, T. B., & Gitlin, J. D. (1999) · Neurobiology of Disease · doi:10.1006/nbdi.1999.0250 · Cited by 858 · see citing works

Metallochaperones, an Intracellular Shuttle Service for Metal Ions

O'Halloran, T. V., & Culotta, V. C. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.r000006200 · Cited by 806 · see citing works

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

Zhou, B., Westaway, S. K., Levinson, B., Johnson, M., Gitschier, J. M., & Hayflick, S. J. (2001) · Nature Genetics · doi:10.1038/ng572 · Cited by 756 · see citing works

Regulation of Iron Metabolism by Hepcidin

Nemeth, E., & Ganz, T. (2006) · Annual Review of Nutrition · doi:10.1146/annurev.nutr.26.061505.111303 · Cited by 756 · see citing works

Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits

Puccio, H., Simon, D., Cossée, M., Criqui-Filipe, P., Tiziano, F., Melki, J., Hindelang, C., Matyas, R., Rustin, P., & Koenig, M. (2001) · Nature Genetics · doi:10.1038/84818 · Cited by 738 · see citing works

A Delicate Balance: Homeostatic Control of Copper Uptake and Distribution

Peña, M. M. O., Lee, J., & Thiele, D. J. (1999) · Journal of Nutrition · doi:10.1093/jn/129.7.1251 · Cited by 733 · see citing works

Metals and neuroscience

Bush, A. (2000) · Current Opinion in Chemical Biology · doi:10.1016/s1367-5931(99)00073-3 · Cited by 731 · see citing works

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 · see citing works

Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome

Hayflick, S. J., Westaway, S. K., Levinson, B., Zhou, B., Johnson, M., Ching, K. H. L., & Gitschier, J. M. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa020817 · Cited by 713 · see citing works

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 · see citing works

B lymphocytes and neuroinvasion

Brown, P. (1997) · Nature · doi:10.1038/37733 · Cited by 658 · see citing works

Iron Homeostasis

Andrews, N. C., & Schmidt, P. J. (2006) · Annual Review of Physiology · doi:10.1146/annurev.physiol.69.031905.164337 · Cited by 640 · see citing works

Ligand‐regulated transport of the Menkes copper P‐type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking.

Petris, M. J., Mercer, J. F. B., Culvenor, J. G., Lockhart, P. J., Gleeson, P. A., & Camakaris, J. (1996) · The EMBO Journal · doi:10.1002/j.1460-2075.1996.tb00997.x · Cited by 637 · see citing works

Mitoferrin is essential for erythroid iron assimilation

Shaw, G. C., Cope, J. J., Li, L., Corson, K., Hersey, C., Ackermann, G. E., Gwynn, B., Lambert, A. J., Wingert, R. A., Traver, D., et al. (2006) · Nature · doi:10.1038/nature04512 · Cited by 624 · see citing works

The Yin and Yang of NMDA receptor signalling

Hardingham, G. E., & Bading, H. (2003) · Trends in Neurosciences · doi:10.1016/s0166-2236(02)00040-1 · Cited by 619 · see citing works

Targeted gene disruption reveals an essential role for ceruloplasmin in cellular iron efflux

Harris, Z. L., Durley, A. P., Man, T. K., & Gitlin, J. D. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.19.10812 · Cited by 568 · see citing works

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.

Harris, Z. L., Takahashi, Y., Miyajima, H., Serizawa, M., MacGillivray, R. T., & Gitlin, J. D. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.7.2539 · Cited by 558 · see citing works

Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

Curtis, A. R. J., Fey, C., Morris, C. M., Bindoff, L. A., Ince, P. G., Chinnery, P. F., Coulthard, A., Jackson, M. J., Jackson, A. P., McHale, D. P., et al. (2001) · Nature Genetics · doi:10.1038/ng571 · Cited by 537 · see citing works

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Morgan, N. V., Westaway, S. K., Morton, J. E. V., Gregory, A., Gissen, P., Sonek, S., Cangül, H., Coryell, J. C., Canham, N. L. E., Nardocci, N., et al. (2006) · Nature Genetics · doi:10.1038/ng1826 · Cited by 532 · see citing works

Isolation and Characterization of a Human Liver cDNA as a Candidate Gene for Wilson Disease

Yamaguchi, Y., Heiny, M. E., & Gitlin, J. D. (1993) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1993.2471 · Cited by 518 · see citing works

Targeted deletion of the gene encoding iron regulatory protein-2 causes misregulation of iron metabolism and neurodegenerative disease in mice

LaVaute, T., Smith, S., Cooperman, S., Iwai, K., Land, W., Meyron-Holtz, E., Drake, S. K., Miller, G., Abu-Asab, M., Tsokos, M., et al. (2001) · Nature Genetics · doi:10.1038/84859 · Cited by 509 · see citing works

Activation of superoxide dismutases: Putting the metal to the pedal

Culotta, V., Yang, M., & O’Halloran, T. V. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.05.003 · Cited by 509 · see citing works

NEW INSIGHTS INTO ERYTHROPOIESIS: The Roles of Folate, Vitamin B 12 , and Iron

Koury, M. J., & Ponka, P. (2004) · Annual Review of Nutrition · doi:10.1146/annurev.nutr.24.012003.132306 · Cited by 494 · see citing works

Biosynthesis of heme in mammals

Ajioka, R. S., Phillips, J. D., & Kushner, J. P. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.05.005 · Cited by 493 · see citing works

Essential role for mammalian copper transporter Ctr1 in copper homeostasis and embryonic development

Lee, J., Prohaska, J. R., & Thiele, D. J. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.111058698 · Cited by 467 · see citing works

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

Yoshida, K., Furihata, K., Takeda, S., Nakamura, A., Yamamoto, K., Morita, H., Hiyamuta, S., Ikeda, S.-I., Shimizu, N., & Yanagisawa, N. (1995) · Nature Genetics · doi:10.1038/ng0395-267 · Cited by 463 · see citing works

Trace amounts of copper in water induce β-amyloid plaques and learning deficits in a rabbit model of Alzheimer's disease

Sparks, D. L., & Schreurs, B. G. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1832769100 · Cited by 455 · see citing works

Iron–sulphur cluster biogenesis and mitochondrial iron homeostasis

Rouault, T. A., & Tong, W.-H. (2005) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1620 · Cited by 432 · see citing works

The crucial role of metal ions in neurodegeneration: the basis for a promising therapeutic strategy

Gaeta, A., & Hider, R. C. (2005) · British Journal of Pharmacology · doi:10.1038/sj.bjp.0706416 · Cited by 411 · see citing works

The copper transporter CTR1 provides an essential function in mammalian embryonic development

Kuo, Y., Zhou, B., Cosco, D., & Gitschier, J. M. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.111057298 · Cited by 395 · see citing works

Ceruloplasmin regulates iron levels in the CNS and prevents free radical injury

Patel, B. N., Dunn, R. J., Jeong, S. Y., Zhu, Q., Julien, J.-P., & David, S. (2002) · The Journal of Neuroscience · doi:10.1523/jneurosci.22-15-06578.2002 · Cited by 379 · see citing works

Glycosylphosphatidylinositol-anchored ceruloplasmin is required for iron efflux from cells in the central nervous system

Jeong, S. Y., & David, S. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m301988200 · Cited by 377 · see citing works

Copper chaperone for superoxide dismutase is essential to activate mammalian Cu/Zn superoxide dismutase

Wong, P. C., Waggoner, D., Subramaniam, J. R., Tessarollo, L., Bartnikas, T. B., Culotta, V., Price, D. L., Rothstein, J. D., & Gitlin, J. D. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.040461197 · Cited by 365 · see citing works

Iron-Sulfur Protein Biogenesis in Eukaryotes: Components and Mechanisms

Lill, R., & Mühlenhoff, U. (2006) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.22.010305.104538 · Cited by 365 · see citing works

Wilson disease

Gitlin, J. D. (2003) · Gastroenterology · doi:10.1053/j.gastro.2003.05.010 · Cited by 344 · see citing works

Reduced Fertility in Female Mice Lacking Copper-Zinc Superoxide Dismutase

Ho, Y.-S., Gargano, M. D., Cao, J., Bronson, R. T., Heimler, I., & Hutz, R. J. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.13.7765 · Cited by 333 · see citing works

Neurodegeneration with brain iron accumulation

Hayflick, S. J., Kurian, M. A., & Hogarth, P. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00019-1 · Cited by 323 · see citing works

Cues that hippocampal place cells encode: Dynamic and hierarchical representation of local and distal stimuli

Shapiro, M. L., Tanila, H., & Eichenbaum, H. (1997) · Hippocampus · doi:10.1002/(sici)1098-1063(1997)7:6 · Cited by 323 · see citing works

Copper deficiency myelopathy produces a clinical picture like subacute combined degeneration

Kumar, N., Gross, J. B., & Ahlskog, J. E. (2004) · Neurology · doi:10.1212/01.wnl.0000132644.52613.fa · Cited by 323 · see citing works

Ctr1 drives intestinal copper absorption and is essential for growth, iron metabolism, and neonatal cardiac function

Nose, Y., Kim, B., & Thiele, D. J. (2006) · Cell Metabolism · doi:10.1016/j.cmet.2006.08.009 · Cited by 321 · see citing works

Lysyl Oxidase Is Required for Vascular and Diaphragmatic Development in Mice

Hornstra, I. K., Birge, S., STARCHER, B. C., Bailey, A. J., Mecham, R. P., & Shapiro, S. D. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m210144200 · Cited by 309 · see citing works

Nerve endings from rat brain tissue release copper upon depolarization. A possible role in regulating neuronal excitability.

Kardos, J., Kovács, I., Hajós, F., Kálmán, M., & Simonyi, M. (1989) · Neuroscience Letters · doi:10.1016/0304-3940(89)90565-x · Cited by 298 · see citing works

Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration

Miyajima, H., Nishimura, Y., Mimguchi, K., Sakamoto, M., Shimizu, T., & Honda, N. (1987) · Neurology · doi:10.1212/wnl.37.5.761 · Cited by 295 · see citing works

NMDA Receptor Activation Mediates Copper Homeostasis in Hippocampal Neurons

Schlief, M. L., Craig, A. M., & Gitlin, J. D. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.3699-04.2005 · Cited by 291 · see citing works

NMDA Receptor-Nitric Oxide Transmission Mediates Neuronal Iron Homeostasis via the GTPase Dexras1

Cheah, J. H., Kim, S. F., Hester, L. D., Clancy, K. W., Patterson, S. E., Papadopoulos, V., & Snyder, S. H. (2006) · Neuron · doi:10.1016/j.neuron.2006.07.011 · Cited by 285 · see citing works

Cellular iron metabolism

Ponka, P. (1999) · Kidney International · doi:10.1046/j.1523-1755.1999.055suppl.69002.x · Cited by 273 · see citing works

Transport of Iron in the Blood‐Brain‐Cerebrospinal Fluid System

Bradbury, M. W. B. (1997) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.1997.69020443.x · Cited by 270 · see citing works

Tissue distribution and clearance kinetics of non-transferrin-bound iron in the hypotransferrinemic mouse: a rodent model for hemochromatosis

Craven, C. M., Alexander, J., Eldridge, M., Kushner, J. P., Bernstein, S., & Kaplan, J. (1987) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.84.10.3457 · Cited by 259 · see citing works

Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis

Harris, Z. L., Klomp, L. W. J., & Gitlin, J. (1998) · American Journal of Clinical Nutrition · doi:10.1093/ajcn/67.5.972s · Cited by 253 · see citing works

Copper homeostasis in eukaryotes: Teetering on a tightrope

Balamurugan, K., & Schaffner, W. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.05.001 · Cited by 249 · see citing works

The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis

Hamza, I., Faisst, A. M., Prohaska, J. R., Chen, J., Gruß, P., & Gitlin, J. D. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.111058498 · Cited by 246 · see citing works

Hereditary ceruloplasmin deficiency with hemosiderosis: A clinicopathological study of a japanese family

Morita, H., Ikeda, S., Yamamoto, K., Morita, S., Yoshida, K., Nomoto, S., Kato, M., & Yanagisawa, N. (1995) · Annals of Neurology · doi:10.1002/ana.410370515 · Cited by 245 · see citing works

The Metabolism of Neuronal Iron and Its Pathogenic Role in Neurological Disease: Review

Moos, T., & Morgan, E. H. (2004) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1306.002 · Cited by 234 · see citing works

The Human Cytochrome c Oxidase Assembly Factors SCO1 and SCO2 Have Regulatory Roles in the Maintenance of Cellular Copper Homeostasis

Leary, S. C., Cobine, P. A., Kaufman, B. A., Guercin, G.-H., Mattman, A., Palaty, J., Lockitch, G., Winge, D. R., Rustin, P., Horváth, R., et al. (2007) · Cell Metabolism · doi:10.1016/j.cmet.2006.12.001 · Cited by 225 · see citing works

Function and Regulation of the Mammalian Copper-transporting ATPases: Insights from Biochemical and Cell Biological Approaches

Lutsenko, S., & Petris, M. J. (2003) · The Journal of Membrane Biology · doi:10.1007/s00232-002-1040-6 · Cited by 221 · see citing works

Copper Transport Protein (Ctr1) Levels in Mice Are Tissue Specific and Dependent on Copper Status

Kuo, Y., Gybina, A. A., Pyatskowit, J. W., Gitschier, J. M., & Prohaska, J. R. (2006) · Journal of Nutrition · doi:10.1093/jn/136.1.21 · Cited by 218 · see citing works

Expression of the iron transporter ferroportin in synaptic vesicles and the blood-brain barrier

Wu, L. J.-C., Leenders, A. G. M., Cooperman, S., Meyron-Holtz, E., Smith, S., Land, W., Tsai, R. Y. L., Berger, U. V., Sheng, Z.-H., & Rouault, T. A. (2004) · Brain Research · doi:10.1016/j.brainres.2003.10.066 · Cited by 210 · see citing works

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation

Chinnery, P. F., Crompton, D. E., Birchall, D., Jackson, M. J., Coulthard, A., Lombes, A., Quinn, N., Wills, A., Fletcher, N., Mottershead, J. P., et al. (2006) · Brain · doi:10.1093/brain/awl319 · Cited by 205 · see citing works

Essential role for Atox1 in the copper-mediated intracellular trafficking of the Menkes ATPase

Hamza, I., Prohaska, J., & Gitlin, J. D. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0336230100 · Cited by 203 · see citing works

Alternative RNA Splicing Generates a Glycosylphosphatidylinositol-anchored Form of Ceruloplasmin in Mammalian Brain

Patel, B. N., Dunn, R. J., & David, S. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.6.4305 · Cited by 202 · see citing works

Ceruloplasmin gene expression in the murine central nervous system.

Klomp, L. W. J., Farhangrazi, Z. S., Dugan, L. L., & Gitlin, J. D. (1996) · Journal of Clinical Investigation · doi:10.1172/jci118768 · Cited by 194 · see citing works

Evidence for release of copper in the brain: Depolarization‐induced release of newly taken‐up 67copper

Hartter, D. E., & Barnea, A. (1988) · Synapse · doi:10.1002/syn.890020408 · Cited by 185 · see citing works

Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity

Schlief, M. L., West, T., Craig, A. M., Holtzman, D. M., & Gitlin, J. D. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0605390103 · Cited by 184 · see citing works

Hepatic Copper Metabolism: Insights From Genetic Disease

Tao, T. Y., & Gitlin, J. D. (2003) · Hepatology · doi:10.1053/jhep.2003.50281 · Cited by 183 · see citing works

Neurological and neuropsychiatric spectrum of Wilson's disease: a prospective study of 45 cases

Oder, W., Grimm, G., Kollegger, H., et al. (1991) · Journal of Neurology · doi:10.1007/bf00319740 · Cited by 181 · see citing works

Effect of copper deficiency on prenatal development and pregnancy outcome

Keen, C. L., Uriu‐Hare, J. Y., Hawk, S. N., Jankowski, M., Daston, G. P., Kwik-Uribe, C. L., & Rucker, R. B. (1998) · American Journal of Clinical Nutrition · doi:10.1093/ajcn/67.5.1003s · Cited by 164 · see citing works

Metals in our minds: therapeutic implications for neurodegenerative disorders

Doraiswamy, P. M., & Finefrock, A. E. (2004) · The Lancet Neurology · doi:10.1016/s1474-4422(04)00809-9 · Cited by 161 · see citing works

Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia

Klomp, L. W. J. (1996) · Human Molecular Genetics · doi:10.1093/hmg/5.12.1989 · Cited by 161 · see citing works

Intracellular Ferritin Accumulation in Neural and Extraneural Tissue Characterizes a Neurodegenerative Disease Associated with a Mutation in theFerritin Light PolypeptideGene

Vidal, R., Ghetti, B. F., Takao, M., Brefel‐Courbon, C., Uro‐Coste, E., Glazier, B. S., Siani, V., Benson, M. D., Calvas, P., Miravalle, L., et al. (2004) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/63.4.363 · Cited by 161 · see citing works

Age-Related Changes in Iron Homeostasis and Cell Death in the Cerebellum of Ceruloplasmin-Deficient Mice

Jeong, S. Y., & David, S. (2006) · Journal of Neuroscience · doi:10.1523/jneurosci.2922-06.2006 · Cited by 148 · see citing works

Hereditary Ferritinopathy: A Novel Mutation, Its Cellular Pathology, and Pathogenetic Insights

Mancuso, M., Davidzon, G., Kurlan, R., Tawil, R., Bonilla, E., Mauro, S. D., & Powers, J. M. (2005) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/64.4.280 · Cited by 146 · see citing works

Clinical manifestations and treatment of Menkes disease and its variants

Kodama, H., Murata, Y., & Kobayashi, M. (1999) · Pediatrics International · doi:10.1046/j.1442-200x.1999.01095.x · Cited by 141 · see citing works

Copper Homeostasis in the CNS: A Novel Link Between the NMDA Receptor and Copper Homeostasis in the Hippocampus

Schlief, M. L., & Gitlin, J. D. (2006) · Molecular Neurobiology · doi:10.1385/mn:33:2:81 · Cited by 140 · see citing works

Aceruloplasminemia

Gitlin, J. D. (1998) · Pediatric Research · doi:10.1203/00006450-199809000-00001 · Cited by 140 · see citing works

Pathophysiology and Clinical Features of Wilson Disease

Ferenci, P. (2004) · Metabolic Brain Disease · doi:10.1023/b:mebr.0000043973.10494.85 · Cited by 137 · see citing works

A murine model of Menkes disease reveals a physiological function of metallothionein

Kelly, E. J., & Palmiter, R. D. (1996) · Nature Genetics · doi:10.1038/ng0696-219 · Cited by 137 · see citing works

Wilson disease in 1998: genetic, diagnostic and therapeutic aspects

Gollan, J. L., & Gollan, T. J. (1998) · Journal of Hepatology · doi:10.1016/s0168-8278(98)80373-5 · Cited by 137 · see citing works

Deletion of peptide amidation enzymatic activity leads to edema and embryonic lethality in the mouse

Czyzyk, T. A., Ning, Y., Hsu, M., Peng, B. W., Mains, R. E., Eipper, B. A., & Pintar, J. E. (2005) · Developmental Biology · doi:10.1016/j.ydbio.2005.09.001 · Cited by 134 · see citing works

Metabolic and Molecular Bases of Menkes Disease and Occipital Horn Syndrome

Kaler, S. G. (1998) · Pediatric and Developmental Pathology · doi:10.1007/s100249900011 · Cited by 131 · see citing works

Hereditary caeruloplasmin deficiency, dementia and diabetes mellitus

LOGAN, J. I., HARVEYSON, K. B., WISDOM, G. B., HUGHES, A. E., & ARCHBOLD, G. P. R. (1994) · QJM · doi:10.1093/oxfordjournals.qjmed.a068881 · Cited by 130 · see citing works

Similar Splice-Site Mutations of the ATP7A Gene Lead to Different Phenotypes: Classical Menkes Disease or Occipital Horn Syndrome

Møller, L. B., Tümer, Z., Lund, C., et al. (2000) · The American Journal of Human Genetics · doi:10.1086/302857 · Cited by 129 · see citing works

ORTHOTOPIC LIVER TRANSPLANTATION FOR WILSON???S DISEASE

Emre, S., Atillasoy, E. O., Özdemir, S., et al. (2001) · Transplantation · doi:10.1097/00007890-200110150-00008 · Cited by 128 · see citing works

Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.

Christodoulou, J., Danks, D. M., Sarkar, B., et al. (1998) · PubMed · Cited by 126 · see citing works

Atp7a determines a hierarchy of copper metabolism essential for notochord development

Mendelsohn, B. A., Yin, C., Johnson, S. L., Wilm, T. P., Solnica‐Krezel, L., & Gitlin, J. D. (2006) · Cell Metabolism · doi:10.1016/j.cmet.2006.05.001 · Cited by 125 · see citing works

Differential modulation by zinc and copper of amino acid receptors from rat olfactory bulb neurons

Trombley, P. Q., & Shepherd, G. M. (1996) · Journal of Neurophysiology · doi:10.1152/jn.1996.76.4.2536 · Cited by 125 · see citing works

Neurodegenerative disease and iron storage in the brain

Thomas, M., & Jankovic, J. J. (2004) · Current Opinion in Neurology · doi:10.1097/01.wco.0000137534.61244.d1 · Cited by 117 · see citing works

Mitochondrial Localization of Human PANK2 and Hypotheses of Secondary Iron Accumulation in Pantothenate Kinase‐Associated Neurodegeneration

Johnson, M., Kuo, Y. M., Westaway, S. K., Parker, S. M., Ching, K. H. L., Gitschier, J. M., & Hayflick, S. J. (2004) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1306.023 · Cited by 112 · see citing works

ORTHOTOPIC LIVER TRANSPLANTATION FOR WILSON'S DISEASE

Dubois, R. S., Rodgerson, D. O., Martineau, G. L., et al. (1971) · The Lancet · doi:10.1016/s0140-6736(71)91121-4 · Cited by 111 · see citing works

Copper Modulation of NMDA Responses in Mouse and Rat Cultured Hippocampal Neurons

Vlachová, V., Zemkova, H. W., & Vyklický, L. (1996) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.1996.tb01189.x · Cited by 106 · see citing works

Hereditary Causes of Disturbed Iron Homeostasis in the Central Nervous System

Ponka, P. (2004) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1306.022 · Cited by 99 · see citing works

Hereditary hemochromatosis

Pietrangelo, A. (2006) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2006.05.013 · Cited by 99 · see citing works

Neuroferritinopathy: Missense mutation in FTL causing early-onset bilateral pallidal involvement

Maciel, P., Cruz, V. T., Constante, M., Iniesta, I., Costa, M. C., Gallati, S., Sousa, N., Sequeiros, J., Coutinho, P., & Santos, M. M. (2005) · Neurology · doi:10.1212/01.wnl.0000178224.81169.c2 · Cited by 96 · see citing works

The effects of copper ions on glutamate receptors in cultured rat cortical neurons

Weiser, T. W., & Wienrich, M. (1996) · Brain Research · doi:10.1016/s0006-8993(96)01009-8 · Cited by 94 · see citing works

Brain capillary endothelial cells mediate iron transport into the brain by segregating iron from transferrin without the involvement of divalent metal transporter 1

Moos, T., Skjørringe, T., Gosk, S., & Morgan, E. H. (2006) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2006.04023.x · Cited by 91 · see citing works

Menkes syndrome and animal models

Mercer, J. F. B. (1998) · American Journal of Clinical Nutrition · doi:10.1093/ajcn/67.5.1022s · Cited by 88 · see citing works

REVIEW ARTICLE Neurodegeneration with brain iron accumulation

Gregory, A., & Hayflick, S. J. (2006) · Folia Neuropathologica · Cited by 88 · see citing works

IV. Wilson’s disease and Menkes disease

Schaefer, M. C., & Gitlin, J. D. (1999) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.1999.276.2.g311 · Cited by 85 · see citing works

Iron overload due to mutations in ferroportin.

Domenico, I. D., Ward, D. M., Musci, G., & Kaplan, J. (2006) · PubMed · Cited by 84 · see citing works

Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation

Levi, S., Cozzi, A., & Arosio, P. (2005) · Best Practice & Research Clinical Haematology · doi:10.1016/j.beha.2004.08.021 · Cited by 84 · see citing works

Iron Dysregulation and Neurodegeneration: The Molecular Connection

Lee, D. W. (2006) · Molecular Interventions · doi:10.1124/mi.6.2.6 · Cited by 80 · see citing works

Molecular and pathological basis of aceruloplasminemia

Kono, S., & Miyajima, H. (2006) · Biological Research · doi:10.4067/s0716-97602006000100003 · Cited by 79 · see citing works

Copper Chaperones for Cytochrome c Oxidase and Human Disease

Hamza, I., & Gitlin, J. D. (2002) · Journal of Bioenergetics and Biomembranes · doi:10.1023/a:1021254104012 · Cited by 77 · see citing works

Early copper therapy in classic Menkes disease patients with a novel splicing mutation

Kaler, S. G., Buist, N. R. M., Holmes, C. S., et al. (1995) · Annals of Neurology · doi:10.1002/ana.410380613 · Cited by 76 · see citing works

The copper-iron connection: Hereditary aceruloplasminemia

Nittis, T., & Gitlin, J. D. (2002) · Seminars in Hematology · doi:10.1053/shem.2002.35633 · Cited by 73 · see citing works

Friedreich ataxia?update on pathogenesis and possible therapies

Voncken, M., Ioannou, P. A., & Delatycki, M. B. (2004) · Neurogenetics · doi:10.1007/s10048-003-0170-z · Cited by 70 · see citing works

Iron overload and antioxidative role of perivascular astrocytes in aceruloplasminemia

Oide, T., Yoshida, K., Kaneko, K., Ohta, M., & Arima, K. (2006) · Neuropathology and Applied Neurobiology · doi:10.1111/j.1365-2990.2006.00710.x · Cited by 69 · see citing works

Histochemical detection of zinc and copper in various neurons of the central nervous system

Kozma, M., Szerdahelyi, P., & Kása, P. (1981) · Acta Histochemica · doi:10.1016/s0065-1281(81)80003-7 · Cited by 63 · see citing works

Astrocytic Deformity and Globular Structures Are Characteristic of the Brains of Patients with Aceruloplasminemia

Kaneko, K., Yoshida, K., Arima, K., Ohara, S., Miyajima, H., Kato, T., Ohta, M., & Ikeda, S.-I. (2002) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/61.12.1069 · Cited by 62 · see citing works

Disorder of copper transport

Culotta, V. C. (2001) · Medical Entomology and Zoology · Cited by 57 · see citing works

Hereditary Hemochromatosis

Pietrangelo, A. (2006) · Annual Review of Nutrition · doi:10.1146/annurev.nutr.26.061505.111226 · Cited by 56 · see citing works

The Developmentally Regulated Expression of Menkes Protein ATP7A Suggests a Role in Axon Extension and Synaptogenesis

Meskini, R. E., Cline, L. B., Eipper, B. A., et al. (2005) · Developmental Neuroscience · doi:10.1159/000086713 · Cited by 54 · see citing works

Studies on the Nature and Excretion of Biliary Copper in Man

Gollan, J. L., & Deller, D. J. (1973) · Clinical Science · doi:10.1042/cs0440009 · Cited by 52 · see citing works

The Timing of Perinatal Copper Deficiency in Mice Influences Offspring Survival

Prohaska, J. R., & Brokate, B. (2002) · Journal of Nutrition · doi:10.1093/jn/131.10.3142 · Cited by 49 · see citing works

The Neuropsychiatry of Wilson's Disease: A Review

Dening, T. (1991) · The International Journal of Psychiatry in Medicine · doi:10.2190/bafk-d0a7-q1c4-v667 · Cited by 47 · see citing works

Liver transplantation in neurologic Wilson’s disease

Schumacher, G., Platz, K. P., Mueller, A. R., et al. (2001) · Transplantation Proceedings · doi:10.1016/s0041-1345(00)02578-1 · Cited by 47 · see citing works

A genetic view of iron homeostasis

Andrews, N. C. (2002) · Seminars in Hematology · doi:10.1053/shem.2002.35632 · Cited by 46 · see citing works

Localization of copper to afferent terminals in rat locus ceruleus, in contrast to mitochondrial copper in cerebellum.

Sato, M., Ohtomo, K., Daimon, T., et al. (1994) · Journal of Histochemistry & Cytochemistry · doi:10.1177/42.12.7983358 · Cited by 42 · see citing works

Reevaluation of the importance of polymorphic HLA class II alleles and amino acids in the susceptibility of individuals of different populations to type I diabetes

Zamani, M., & Cassiman, J. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980305)76:2 · Cited by 39 · see citing works

Menkes' kinky hair disease: morphological and immunohistochemical comparisonof two autopsied patients

Okeda, R., Gei, S., Chen, I., et al. (1991) · Acta Neuropathologica · doi:10.1007/bf00293467 · Cited by 35 · see citing works

Neuropathology of Menkes' Disease

Barnard, R., Best, P. V., & Erdohazi, M. (1978) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.1978.tb15277.x · Cited by 35 · see citing works

Relapsing hypocupraemic myelopathy requiring high-dose oral copper replacement

Prodan, C. I. (2006) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.2006.096883 · Cited by 32 · see citing works

Early Magnetic Resonance Imaging Findings in Menkes' Disease

Leventer, R. J., Kornberg, A. J., Phelan, E., et al. (1997) · Journal of Child Neurology · doi:10.1177/088307389701200314 · Cited by 27 · see citing works

Early neuroradiologic evidence of degeneration in Menkes' disease

Geller, T. J., Pan, Y., & Martin, D. S. (1997) · Pediatric Neurology · doi:10.1016/s0887-8994(97)00092-1 · Cited by 21 · see citing works

The role of iron in brain ageing and neurodegenerative disorders

Ward, R. J., Zucca, F. A., Duyn, J. H., Crichton, R. R., & Zecca, L. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70117-6 · Cited by 1,819 · see citing works

Mammalian iron metabolism and its control by iron regulatory proteins

Anderson, C. P., Shen, M., Eisenstein, R. S., & Leibold, E. A. (2012) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2012.05.010 · Cited by 493 · see citing works

Minding metals: Tailoring multifunctional chelating agents for neurodegenerative disease

Perez, L. R., & Franz, K. J. (2010) · Dalton Trans. · doi:10.1039/b919237a · Cited by 156 · see citing works

Ceruloplasmin oxidation, a feature of Parkinson's disease CSF, inhibits ferroxidase activity and promotes cellular iron retention

Olivieri, S., Conti, A., Iannaccone, S., Cannistraci, C. V., Campanella, A., Barbariga, M., Codazzi, F., Pelizzoni, I., Magnani, G., Pesca, M., et al. (2011) · The Journal of Neuroscience · doi:10.1523/jneurosci.3768-11.2011 · Cited by 125 · see citing works

Iron prochelator BSIH protects retinal pigment epithelial cells against cell death induced by hydrogen peroxide

Charkoudian, L. K., Dentchev, T., Lukinova, N., Wolkow, N., Dunaief, J. L., & Franz, K. J. (2008) · Journal of Inorganic Biochemistry · doi:10.1016/j.jinorgbio.2008.08.001 · Cited by 49 · see citing works

[Copper metabolism and genetic disorders].

Shimizu, N. (2016) · PubMed

Menkes' syndrome: An updated review

Hart, D. B. (1983) · Journal of the American Academy of Dermatology · doi:10.1016/s0190-9622(83)70121-0 · Cited by 29 · see citing works

Menkes's Syndrome

Maddox, J. L., Odom, R. B., & Goette, D. K. (1984) · Pediatric Dermatology · doi:10.1111/j.1525-1470.1984.tb01135.x · Cited by 3 · see citing works

Menkes' Disease: Perspective and Update on a Fatal Copper Disorder

Harris, E. D. (2009) · Nutrition Reviews · doi:10.1111/j.1753-4887.1993.tb03111.x · Cited by 15 · see citing works

Movement Disorder with Abnormal Copper Metabolism. A Case Report and Review of the Literature.

Araki, K., TACHIBANA, I., Ueda, Y., et al. (1991) · Japanese Journal of Medicine · doi:10.2169/internalmedicine1962.30.383 · Cited by 2 · see citing works