메뉴 건너뛰기




Volumn 8, Issue DEC, 2015, Pages

Mottled mice and non-mammalian models of menkes disease

Author keywords

ATP7A; Copper metabolism; Menkes disease; Mottled mice

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ALPHA INTERMEDIN; ASPARTIC ACID; CERULOPLASMIN; CHOLECYSTOKININ; COPPER; GLUTAMIC ACID; MENKES PROTEIN; NEUROPEPTIDE Y;

EID: 84957805357     PISSN: 16625099     EISSN: None     Source Type: Journal    
DOI: 10.3389/fnmol.2015.00072     Document Type: Review
Times cited : (23)

References (164)
  • 1
    • 0038249175 scopus 로고    scopus 로고
    • DMT1, a physiologically relevant apical Cu+ transporter of intestinal cells
    • Arredondo, M., Munoz, P., Mura, C. V., and Nunez, M. T. (2003). DMT1, a physiologically relevant apical Cu+ transporter of intestinal cells. Am. J. Physiol. CellPhysiol. 284,C1525-C1530. doi: 10.1152/ajpcell.00480.2002
    • (2003) Am. J. Physiol. Cellphysiol , vol.284 , pp. C1525-C1530
    • Arredondo, M.1    Munoz, P.2    Mura, C.V.3    Nunez, M.T.4
  • 2
    • 77649205678 scopus 로고    scopus 로고
    • A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment
    • Bahadorani, S., Bahadorani, P., Marcon, E., Walker, D. W., and Hilliker, A. J. (2010). A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment. Dis. Model. Mech. 3, 84-91. doi: 10.1242/dmm.002642
    • (2010) Dis. Model. Mech , vol.3 , pp. 84-91
    • Bahadorani, S.1    Bahadorani, P.2    Marcon, E.3    Walker, D.W.4    Hilliker, A.J.5
  • 4
    • 72049117359 scopus 로고    scopus 로고
    • Structural organization ofhuman Cu-transporting ATPases: Learning from building blocks
    • Barry, A. N., Shinde, U., and Lutsenko, S. (2010). Structural organization ofhuman Cu-transporting ATPases: learning from building blocks. J. Biol. Inorg. Chem. 15, 47-59. doi: 10.1007/s00775-009-0595-4
    • (2010) J. Biol. Inorg. Chem , vol.15 , pp. 47-59
    • Barry, A.N.1    Shinde, U.2    Lutsenko, S.3
  • 5
    • 77956055334 scopus 로고    scopus 로고
    • Multiple regulatory mechanisms act in concert to control ferroportin expression and heme iron recycling by macrophages
    • Beaumont, C. (2010). Multiple regulatory mechanisms act in concert to control ferroportin expression and heme iron recycling by macrophages. Haematologica 95, 1233-1236. doi: 10.3324/hemeatol.2010.025585
    • (2010) Haematologica , vol.95 , pp. 1233-1236
    • Beaumont, C.1
  • 6
    • 84862539225 scopus 로고    scopus 로고
    • Effect of copper and disulfiram combination therapy on the macular mouse, a model of Menkes disease
    • Bhadhprasit, W., Kodama, H., Fujisawa, C., Hiroki, T., and Ogawa, E. (2012). Effect of copper and disulfiram combination therapy on the macular mouse, a model of Menkes disease. J. Trace Elem. Med. Biol. 26, 105-108. doi: 10.1016/j.jtemb.2012.05.002
    • (2012) J. Trace Elem. Med. Biol , vol.26 , pp. 105-108
    • Bhadhprasit, W.1    Kodama, H.2    Fujisawa, C.3    Hiroki, T.4    Ogawa, E.5
  • 8
    • 77955499229 scopus 로고    scopus 로고
    • Peptidylgycine a-amidating monooxygenase and copper: A gene-nutrient interaction critical to nervous system function
    • Bousquet-Moore, D., Mains, R. E., and Eipper, B. A. (2010). Peptidylgycine a-amidating monooxygenase and copper: a gene-nutrient interaction critical to nervous system function. J. Neurosci. Res. 88, 2535-2545. doi: 10.1002/jnr.22404
    • (2010) J. Neurosci. Res , vol.88 , pp. 2535-2545
    • Bousquet-Moore, D.1    Mains, R.E.2    Eipper, B.A.3
  • 9
    • 45249097575 scopus 로고    scopus 로고
    • Expression and localization of the essential copper transporter DmATP7 in Drosophila neuronal and intestinaltissues
    • Burke, R., Commons, E., and Camakaris, J. (2008). Expression and localization of the essential copper transporter DmATP7 in Drosophila neuronal and intestinaltissues. Int.J. Biochem. CeUBiol 40,1850-1860. doi: 10.1016/j.biocel.2008.01.021
    • (2008) Int.J. Biochem. Ceubiol , vol.40 , pp. 1850-1860
    • Burke, R.1    Commons, E.2    Camakaris, J.3
  • 10
    • 0018791655 scopus 로고
    • Copper metabolism in mottled mouse mutants: Copper concentrations in tissues during development
    • Camakaris, J., Mann, J. R., and Danks, D. M. (1979). Copper metabolism in mottled mouse mutants: copper concentrations in tissues during development. Biochem.J. 180, 597-604. doi: 10.1042/bj1800597
    • (1979) Biochem.J. , vol.180 , pp. 597-604
    • Camakaris, J.1    Mann, J.R.2    Danks, D.M.3
  • 11
    • 0030272751 scopus 로고    scopus 로고
    • Genomic organization of the mottled gene, the mouse homolog of the human Menkes disease gene
    • Cecchi, C., and Avner, P. (1996). Genomic organization of the mottled gene, the mouse homolog of the human Menkes disease gene. Genomics 37, 96-104. doi: 10.1006/geno.1996.0525
    • (1996) Genomics , vol.37 , pp. 96-104
    • Cecchi, C.1    Avner, P.2
  • 12
    • 0031052386 scopus 로고    scopus 로고
    • The mottled mouse as a model for human Menkes disease: Identification of mutations in the Atp7a gene
    • Cecchi, C., Bissotto, M., Tosi, M., and Avner, P. (1997). The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene. Hum. Mol. Genet. 6, 425-433. doi: 10.1093/hmg/6.3.425
    • (1997) Hum. Mol. Genet , vol.6 , pp. 425-433
    • Cecchi, C.1    Bissotto, M.2    Tosi, M.3    Avner, P.4
  • 13
    • 80053582628 scopus 로고    scopus 로고
    • PCR-cloning of tilapia ATP7A cDNA and its mRNA levels in tissues of tilapia following copper administrations
    • Chen, D. S., and Chan, K. M. (2011). PCR-cloning of tilapia ATP7A cDNA and its mRNA levels in tissues of tilapia following copper administrations. Aquat. Toxicol. 105, 717-727. doi: 10.1016/j.aquatox.2011.09.011
    • (2011) Aquat. Toxicol , vol.105 , pp. 717-727
    • Chen, D.S.1    Chan, K.M.2
  • 14
    • 33646386896 scopus 로고    scopus 로고
    • Decreased hephaestin activity in the intestine of copper-deficient mice causes systemic iron deficiency
    • Chen, H., Huang, G., Su, T., Gao, H., Attieh, Z. K., McKie, A. T., et al. (2006). Decreased hephaestin activity in the intestine of copper-deficient mice causes systemic iron deficiency. J. Nutr. 136, 1236-1241.
    • (2006) J. Nutr , vol.136 , pp. 1236-1241
    • Chen, H.1    Huang, G.2    Su, T.3    Gao, H.4    Attieh, Z.K.5    McKie, A.T.6
  • 15
    • 79551553885 scopus 로고    scopus 로고
    • Zebrafish sod1 and sp1 expression are modulated by the copper ATPase gene atp7a in response to intracellular copper status
    • Chen, H. R., Yang, H. C., Hsieh, D. J. Y., Liu, Z., and Tsai, K. J. (2011). Zebrafish sod1 and sp1 expression are modulated by the copper ATPase gene atp7a in response to intracellular copper status. Chem. Biol. Interact. 189, 192-197. doi: 10.1016/j.cbi.2010.12.003
    • (2011) Chem. Biol. Interact , vol.189 , pp. 192-197
    • Chen, H.R.1    Yang, H.C.2    Hsieh, D.J.Y.3    Liu, Z.4    Tsai, K.J.5
  • 16
    • 57649158930 scopus 로고    scopus 로고
    • Copper transport to the brain by the blood-brain barrier and blood CSF barrier
    • Choi, B. S., and Zheng, W. (2009). Copper transport to the brain by the blood-brain barrier and blood CSF barrier. Brain Res. 1248, 14-21. doi: 10.1016/j.brainres.2008.10.056
    • (2009) Brain Res , vol.1248 , pp. 14-21
    • Choi, B.S.1    Zheng, W.2
  • 17
    • 0032485513 scopus 로고    scopus 로고
    • Early treatment of Menkes disease with parenteral copper-histidine: Long-term follow-up of four treated patients
    • Christodoulou, J., Danks, D. M., Sarkar, B., Baerlocher, K. E., Casey, R., Horn, N., et al. (1998). Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients. Am. J. Med. Genet. 76, 154-164. doi: 10.1002/(sici)1096-8628(19980305)76:2<154::aid-ajmg9>3.0.co;2-t
    • (1998) Am. J. Med. Genet , vol.76 , pp. 154-164
    • Christodoulou, J.1    Danks, D.M.2    Sarkar, B.3    Baerlocher, K.E.4    Casey, R.5    Horn, N.6
  • 19
    • 77953664981 scopus 로고    scopus 로고
    • Metabolic crossroads of iron and copper
    • Collins, J. F., Prohaska, J. R., and Knutson, M. (2010). Metabolic crossroads of iron and copper. Nutr. Rev. 68, 133-147. doi: 10.1111/j.1753-4887.2010.00271.x
    • (2010) Nutr. Rev , vol.68 , pp. 133-147
    • Collins, J.F.1    Prohaska, J.R.2    Knutson, M.3
  • 20
    • 0035366410 scopus 로고    scopus 로고
    • Intragenic deletions at Atp7a in mouse models for Menkes disease
    • Cunliffe, P., Reed, V., and Boyd, Y. (2001). Intragenic deletions at Atp7a in mouse models for Menkes disease. Genomics 74, 155-162. doi: 10.1006/geno.2001.6529
    • (2001) Genomics , vol.74 , pp. 155-162
    • Cunliffe, P.1    Reed, V.2    Boyd, Y.3
  • 21
    • 0028957864 scopus 로고
    • Similar splicingmutations oftheMenkes/mottled copper-transportingATPase gene in occipital horn syndrome and the blotchy mouse
    • Das, S., Levinson, B., Vulpe, C., Whitney, S., Gitschier, J., and Packman, S. (1995). Similar splicingmutations oftheMenkes/mottled copper-transportingATPase gene in occipital horn syndrome and the blotchy mouse. Am. J. Hum. Genet. 56, 570-576.
    • (1995) Am. J. Hum. Genet , vol.56 , pp. 570-576
    • Das, S.1    Levinson, B.2    Vulpe, C.3    Whitney, S.4    Gitschier, J.5    Packman, S.6
  • 22
    • 34250800318 scopus 로고    scopus 로고
    • Ferroxidase activity is required for the stability of cell surface ferroportin in cells expressing GPI-ceruloplasmin
    • De Domenico, I., Ward, D. M., di Patti, M. C., Jeong, S. Y., David, S., Musci, G., et al. (2007). Ferroxidase activity is required for the stability of cell surface ferroportin in cells expressing GPI-ceruloplasmin. EMBO J. 26, 2823-2831. doi: 10.1038/sj.emboj.7601735
    • (2007) EMBO J , vol.26 , pp. 2823-2831
    • De Domenico, I.1    Ward, D.M.2    Di Patti, M.C.3    Jeong, S.Y.4    David, S.5    Musci, G.6
  • 23
    • 78349272389 scopus 로고    scopus 로고
    • Somatic mosaicism inMenkes disease suggests choroid plexus-mediated copper transport to the developingbrain
    • Donsante, A., Johnson, P., Jansen, L. A., and Kaler, S. G. (2010). Somatic mosaicism inMenkes disease suggests choroid plexus-mediated copper transport to the developingbrain. Am. J. Med. Genet. A 152, 2529-2534. doi: 10.1002/ajmg.a.33632
    • (2010) Am. J. Med. Genet. A , vol.152 , pp. 2529-2534
    • Donsante, A.1    Johnson, P.2    Jansen, L.A.3    Kaler, S.G.4
  • 24
    • 84875459198 scopus 로고    scopus 로고
    • L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model
    • Donsante, A., Sullivan, P., Goldstein, D. S., Brinster, L. R., and Kaler, S. G. (2013). L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model. Ann. Neurol. 73, 259-265. doi: 10.1002/ana.23787
    • (2013) Ann. Neurol , vol.73 , pp. 259-265
    • Donsante, A.1    Sullivan, P.2    Goldstein, D.S.3    Brinster, L.R.4    Kaler, S.G.5
  • 25
    • 82955232408 scopus 로고    scopus 로고
    • ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model
    • Donsante, A., Yi, L., Zerfas, P. M., Brinster, L. R., Sullivan, P., Goldstein, D. S., et al. (2011). ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Mol. Ther. 19, 2114-2123. doi: 10.1038/mt.2011.143
    • (2011) Mol.Ther , vol.19 , pp. 2114-2123
    • Donsante, A.1    Yi, L.2    Zerfas, P.M.3    Brinster, L.R.4    Sullivan, P.5    Goldstein, D.S.6
  • 26
    • 0027418132 scopus 로고
    • Peptidylglycine alpha-amidating monooxygenase: A multifunctional protein with catalytic, processing and routing domains
    • Eipper, B. A., Milgram, S. L., Husten, E. J., Yun, H. Y., and Mains, R. E. (1993). Peptidylglycine alpha-amidating monooxygenase: a multifunctional protein with catalytic, processing and routing domains. Protein Sci. 2, 489-497. doi: 10.1002/pro.5560020401
    • (1993) Protein Sci , vol.2 , pp. 489-497
    • Eipper, B.A.1    Milgram, S.L.2    Husten, E.J.3    Yun, H.Y.4    Mains, R.E.5
  • 27
    • 0026514908 scopus 로고
    • The biosynthesis of neuropeptides: Peptide alpha-amidation
    • Eipper, B. A., Stoffers, D. A., and Mains, R. E. (1992). The biosynthesis of neuropeptides: peptide alpha-amidation. Annu. Rev. Neurosci. 15, 57-85. doi: 10.1146/annurev.neuro.15.1.57
    • (1992) Annu. Rev. Neurosci , vol.15 , pp. 57-85
    • Eipper, B.A.1    Stoffers, D.A.2    Mains, R.E.3
  • 28
    • 24144458246 scopus 로고    scopus 로고
    • The developmentally regulated expression of Menkes protein ATP7A suggests a role in axon extension and synaptogenesis
    • El Meskini, R., Cline, L. B., Eipper, B. A., and Ronnett, G. V. (2005). The developmentally regulated expression of Menkes protein ATP7A suggests a role in axon extension and synaptogenesis. Dev. Neurosci. 27, 333-348. doi: 10.1159/000086713
    • (2005) Dev. Neurosci , vol.27 , pp. 333-348
    • El Meskini, R.1    Cline, L.B.2    Eipper, B.A.3    Ronnett, G.V.4
  • 29
    • 1642551240 scopus 로고
    • Growth of the mouse coat. II. Effect of sex and pregnancy
    • Fraser, A. S., Nay, T., and Turner, H. N. (1953). Growth of the mouse coat. II. Effect of sex and pregnancy. Aust. J. Biol. Sci. 6, 645-656.
    • (1953) Aust. J. Biol. Sci , vol.6 , pp. 645-656
    • Fraser, A.S.1    Nay, T.2    Turner, H.N.3
  • 30
    • 0027159465 scopus 로고
    • Mitochondria-selective reduction of 62Cu-pyruvaldehyde bis(N4-methylthiosemicarbazone) (62Cu-PTSM) in the murine brain; a novel radiopharmaceutical for brain positron emission tomography (PET) imaging
    • Fujibayashi, Y., Wada, K., Taniuchi, H., Yonekura, Y., Konishi, J., andYokoyama, A. (1993). Mitochondria-selective reduction of 62Cu-pyruvaldehyde bis(N4-methylthiosemicarbazone) (62Cu-PTSM) in the murine brain; a novel radiopharmaceutical for brain positron emission tomography (PET) imaging. Biol. Pharm. Bull. 16, 146-149. doi: 10.1248/bpb.16.146
    • (1993) Biol. Pharm. Bull , vol.16 , pp. 146-149
    • Fujibayashi, Y.1    Wada, K.2    Taniuchi, H.3    Yonekura, Y.4    Konishi, J.5    Yokoyama, A.6
  • 31
    • 84869232590 scopus 로고    scopus 로고
    • Copper signaling in the mammalian nervous system: Synaptic effects
    • Gaier, E. D., Eipper, B. A., and Mains, R. E. (2013a). Copper signaling in the mammalian nervous system: synaptic effects. J. Neurosci. Res. 91, 2-19. doi: 10.1002/jnr.23143
    • (2013) J. Neurosci. Res , vol.91 , pp. 2-19
    • Gaier, E.D.1    Eipper, B.A.2    Mains, R.E.3
  • 32
    • 84887617438 scopus 로고    scopus 로고
    • Peptidylglycine a-amidating monooxygenase heterozygosity alters brain copper handling with region specificity
    • Gaier, E. D., Miller, M. B., Ralle, M., Aryal, D., Wetsel, W. C., Mains, R. E., et al. (2013b). Peptidylglycine a-amidating monooxygenase heterozygosity alters brain copper handling with region specificity. J. Neurochem. 127, 605-619. doi: 10.1111/jnc.12438
    • (2013) J. Neurochem , vol.127 , pp. 605-619
    • Gaier, E.D.1    Miller, M.B.2    Ralle, M.3    Aryal, D.4    Wetsel, W.C.5    Mains, R.E.6
  • 33
    • 33748128064 scopus 로고    scopus 로고
    • Brachial artery aneurysms in Menkes disease
    • Godwin, S. C., Shawker, T., Chang, B., and Kaler, S. G. (2006). Brachial artery aneurysms in Menkes disease. J. Pediatr. 149, 412-415. doi: 10.1016/j.jpeds.2006.05.041
    • (2006) J. Pediatr , vol.149 , pp. 412-415
    • Godwin, S.C.1    Shawker, T.2    Chang, B.3    Kaler, S.G.4
  • 35
    • 0002469116 scopus 로고
    • Catalog of mutant genes and polymorphic loci
    • eds M. F. Lyon and A. G. Searle (Oxford: Oxford UniversityPress
    • Green, M. C. (1981). ‘‘Catalog of mutant genes and polymorphic loci,’’ in Genetic Variants and Strains of the Laboratory Mouse, eds M. F. Lyon and A. G. Searle (Oxford: Oxford UniversityPress), 162-166.
    • (1981) Genetic Variants and Strains of the Laboratory Mouse , pp. 162-166
    • Green, M.C.1
  • 36
    • 5444246172 scopus 로고    scopus 로고
    • Am not I a fly like thee? From genes in fruit flies to behavior in humans
    • Greenspan, R. J., and Dierick, H. (2004). ‘Am not I a fly like thee?’ From genes in fruit flies to behavior in humans. Hum. Mol. Genet. 13, R267-R273. doi: 10.1093/hmg/ddh248
    • (2004) Hum. Mol. Genet. , vol.13 , pp. R267-R273
    • Greenspan, R.J.1    Dierick, H.2
  • 37
    • 0030752983 scopus 로고    scopus 로고
    • Molecular basis of the brindled mouse mutant (Mo(br)): A murine model of Menkes disease. Hum. Mol
    • Grimes, A., Hearn, C. J., Lockhart, P., Newgreen, D. F., and Mercer, J. F. (1997). Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease. Hum. Mol. Genet. 6, 1037-1042. doi: 10.1093/hmg/6.7.1037
    • (1997) Genet , vol.6 , pp. 1037-1042
    • Grimes, A.1    Hearn, C.J.2    Lockhart, P.3    Newgreen, D.F.4    Mercer, J.F.5
  • 38
    • 0014568423 scopus 로고
    • Threshold phenomena versus cell heredity in the manifestation of sex-linked genes in mammals
    • Gruneberg, H. (1969). Threshold phenomena versus cell heredity in the manifestation of sex-linked genes in mammals. J. Embryol. Exp. Morphol. 22, 145-179.
    • (1969) J. Embryol. Exp. Morphol , vol.22 , pp. 145-179
    • Gruneberg, H.1
  • 39
    • 84878896984 scopus 로고    scopus 로고
    • Investigation of iron metabolism in mice expressing a mutant Menke’s copper transporting ATPase (Atp7a) protein with diminished activity (Brindled; MoBr/y)
    • Gulec, S., and Collins, J. F. (2013). Investigation of iron metabolism in mice expressing a mutant Menke’s copper transporting ATPase (Atp7a) protein with diminished activity (Brindled; MoBr/y). PLoS One 8:e66010.doi: 10.1371/journal.pone.0066010
    • (2013) Plos One , vol.8
    • Gulec, S.1    Collins, J.F.2
  • 40
    • 84890934072 scopus 로고    scopus 로고
    • Silencing the Menkes copper-transporting ATPase (Atp7a) gene in rat intestinal epithelial (IEC-6) cells increases iron flux via transcriptional induction of ferroportin 1 (Fpn1)
    • Gulec, S., and Collins, J. F. (2014). Silencing the Menkes copper-transporting ATPase (Atp7a) gene in rat intestinal epithelial (IEC-6) cells increases iron flux via transcriptional induction of ferroportin 1 (Fpn1). J. Nutr. 144, 12-19. doi: 10.3945/jn.113.183160
    • (2014) J. Nutr , vol.144 , pp. 12-19
    • Gulec, S.1    Collins, J.F.2
  • 41
    • 84919397054 scopus 로고    scopus 로고
    • Molecular and biochemical characterization of mottled-dappled, an embryonic lethal Menkes disease mouse model
    • Haddad, M. R., Patel, K. D., Sullivan, P. H., Goldstein, D. S., Murphy, K. M., Centeno, J. A., et al. (2014). Molecular and biochemical characterization of mottled-dappled, an embryonic lethal Menkes disease mouse model. Mol. Genet. Metab. 113, 294-300. doi: 10.1016/j.ymgme.2014.10.001
    • (2014) Mol. Genet. Metab , vol.113 , pp. 294-300
    • Haddad, M.R.1    Patel, K.D.2    Sullivan, P.H.3    Goldstein, D.S.4    Murphy, K.M.5    Centeno, J.A.6
  • 42
    • 2542535979 scopus 로고    scopus 로고
    • Expression and localization of Menkes and Wilson copper transportingATPases in human placenta
    • Hardman, B., Manuelpillai, U., Wallace, E. M., van der Wasenburg, S., Carter, M., Mercer, J. F., et al. (2004). Expression and localization of Menkes and Wilson copper transportingATPases in human placenta. Placenta 25, 512-517. doi: 10.1016/j.placenta.2003.11.013
    • (2004) Placenta , vol.25 , pp. 512-517
    • Hardman, B.1    Manuelpillai, U.2    Wallace, E.M.3    Van Der Wasenburg, S.4    Carter, M.5    Mercer, J.F.6
  • 43
    • 35848954099 scopus 로고    scopus 로고
    • Distinct functional roles for the Menkes and Wilson copper translocating P-type ATPases in human placental cells
    • Hardman, B., Michalczyk, A., Greenough, M., Camakaris, J., Mercer, J., and Ackland, L. (2007). Distinct functional roles for the Menkes and Wilson copper translocating P-type ATPases in human placental cells. Cell. Physiol. Biochem. 20, 1073-1084. doi: 10.1159/000110718
    • (2007) Cell. Physiol. Biochem , vol.20 , pp. 1073-1084
    • Hardman, B.1    Michalczyk, A.2    Greenough, M.3    Camakaris, J.4    Mercer, J.5    Ackland, L.6
  • 45
    • 84929294576 scopus 로고    scopus 로고
    • X-linked spinal muscular atrophyin mice caused by autonomous loss ofATP7Ain the motorneuron
    • Hodgkinson, V. L., Dale, J. M., Garcia, M. L., Weisman, G. A., Lee, J., Gitlin, J. D., et al. (2015). X-linked spinal muscular atrophyin mice caused by autonomous loss ofATP7Ain the motorneuron. J.Pathol. 236, 241-250. doi: 10.1002/path.4511
    • (2015) J.Pathol. , vol.236 , pp. 241-250
    • Hodgkinson, V.L.1    Dale, J.M.2    Garcia, M.L.3    Weisman, G.A.4    Lee, J.5    Gitlin, J.D.6
  • 46
    • 79959943448 scopus 로고    scopus 로고
    • Distorted copper homeostasis with decreased sensitivity to cisplatin upon chaperone Atox1 deletion in Drosophila
    • Hua, H., Gunther, V., Georgiev, O., and Schaffner, W. (2011). Distorted copper homeostasis with decreased sensitivity to cisplatin upon chaperone Atox1 deletion in Drosophila. Biometals 24,445-453. doi: 10.1007/s10534-011-9438-1
    • (2011) Biometals , vol.24 , pp. 445-453
    • Hua, H.1    Gunther, V.2    Georgiev, O.3    Schaffner, W.4
  • 47
    • 0016330759 scopus 로고
    • Primary defect in copper transport underlies mottled mutants in the mouse
    • Hunt, D. M. (1974). Primary defect in copper transport underlies mottled mutants in the mouse. Nature 249, 852-854. doi: 10.1038/249852a0
    • (1974) Nature , vol.249 , pp. 852-854
    • Hunt, D.M.1
  • 48
    • 0029930329 scopus 로고    scopus 로고
    • Localization of Menkes gene expression in the mouse brain; its association with neurological manifestation in Menkes model mice
    • Iwase, T., Nishimura, M., Sigimura, H., Igarashi, H., Ozawa, F., Shinmura, K., et al. (1996). Localization of Menkes gene expression in the mouse brain; its association with neurological manifestation in Menkes model mice. Acta Neuropathol. 91,482-488. doi: 10.1007/s004010050455
    • (1996) Acta Neuropathol , vol.91 , pp. 482-488
    • Iwase, T.1    Nishimura, M.2    Sigimura, H.3    Igarashi, H.4    Ozawa, F.5    Shinmura, K.6
  • 49
    • 0031598230 scopus 로고    scopus 로고
    • Metabolic and molecular bases ofMenkes disease and occipital horn syndrome
    • Kaler, S. G. (1998). Metabolic and molecular bases ofMenkes disease and occipital horn syndrome. Pediatr. Dev. Pathol. 1, 85-98. doi: 10.1007/s100249900011
    • (1998) Pediatr. Dev. Pathol , vol.1 , pp. 85-98
    • Kaler, S.G.1
  • 50
    • 78651355486 scopus 로고    scopus 로고
    • ATP7A-related copper transport diseases-emerging concepts and future trends. Nat
    • Kaler, S. G. (2011). ATP7A-related copper transport diseases-emerging concepts and future trends. Nat. Rev. Neurol. 7, 15-29. doi: 10.1038/nrneurol.2010.180
    • (2011) Rev. Neurol , vol.7 , pp. 15-29
    • Kaler, S.G.1
  • 51
    • 0029616291 scopus 로고
    • Early copper therapy in classic Menkes disease patients with a novel splicingmutation
    • Kaler, S. G., Buist, N. R. M., Holmes, C. S., Goldstein, D. S., Miller, R. C., and Gahl, W. A. (1995). Early copper therapy in classic Menkes disease patients with a novel splicingmutation. Ann. Neurol. 38, 921-928. doi: 10.1002/ana.410380613
    • (1995) Ann. Neurol , vol.38 , pp. 921-928
    • Kaler, S.G.1    Buist, N.R.M.2    Holmes, C.S.3    Goldstein, D.S.4    Miller, R.C.5    Gahl, W.A.6
  • 53
    • 77957559691 scopus 로고    scopus 로고
    • Molecular correlates of epilepsyin early diagnosed and treated Menkes disease
    • Kaler, S. G., Liew, C. J., Donsante, A., Hicks, J. D., Sato, S., and Greenfield, J. C. (2010). Molecular correlates of epilepsyin early diagnosed and treated Menkes disease. J. Inherit. Metab. Dis. 33, 583-589. doi: 10.1007/s10545-010-9118-2
    • (2010) J. Inherit. Metab. Dis , vol.33 , pp. 583-589
    • Kaler, S.G.1    Liew, C.J.2    Donsante, A.3    Hicks, J.D.4    Sato, S.5    Greenfield, J.C.6
  • 54
    • 0024952412 scopus 로고
    • Effects of oral copper administration to pregnant heterozygous brindled mice on faetal viability and copper levels
    • Kasama, T., and Tanaka, H. (1989). Effects of oral copper administration to pregnant heterozygous brindled mice on faetal viability and copper levels. J. Nutr. Sci. Vitaminol. (Tokyo) 35, 627-638. doi: 10.3177/jnsv.35.627
    • (1989) J. Nutr. Sci. Vitaminol. (Tokyo) , vol.35 , pp. 627-638
    • Kasama, T.1    Tanaka, H.2
  • 55
    • 0029940562 scopus 로고    scopus 로고
    • Expression of mRNAs for lysyl oxidase and type III procollagen in cultured fibroblasts from patients with the Menkes and occipital horn syndromes as determined by quantitative polymerase chain reaction
    • Kemppainen, R., Hamalainen, E. R., Kuivaniemi, H., Tromp, G., Pihlajaniemi, T., and Kivirikko, K. I. (1996). Expression of mRNAs for lysyl oxidase and type III procollagen in cultured fibroblasts from patients with the Menkes and occipital horn syndromes as determined by quantitative polymerase chain reaction. Arch. Biochem. Biophys. 328, 101-106. doi: 10.1006/abbi.1996.0148
    • (1996) Arch. Biochem. Biophys , vol.328 , pp. 101-106
    • Kemppainen, R.1    Hamalainen, E.R.2    Kuivaniemi, H.3    Tromp, G.4    Pihlajaniemi, T.5    Kivirikko, K.I.6
  • 56
    • 77649236039 scopus 로고    scopus 로고
    • Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy
    • Kennerson, M. L., Nicholson, G. A., Kaler, S. G., Kowalski, B., Mercer, J. F., Tang, J., et al. (2010). Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. Am. J. Hum. Genet. 86, 343-352. doi: 10.1016/j.ajhg.2010.01.027
    • (2010) Am. J. Hum. Genet , vol.86 , pp. 343-352
    • Kennerson, M.L.1    Nicholson, G.A.2    Kaler, S.G.3    Kowalski, B.4    Mercer, J.F.5    Tang, J.6
  • 57
    • 35348843369 scopus 로고    scopus 로고
    • Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localization and trafficking of the ATP7A protein
    • Kim, B. E., and Petris, M. J. (2007). Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localization and trafficking of the ATP7A protein. J. Med. Genet. 44, 641-646. doi: 10.1136/jmg.2007.049627
    • (2007) J. Med. Genet , vol.44 , pp. 641-646
    • Kim, B.E.1    Petris, M.J.2
  • 58
    • 0031741893 scopus 로고    scopus 로고
    • Analysis of the distribution of Cu, Fe and Zn and other elements in brindled mouse kidney using a scanning proton microprobe
    • Kirby, J. B., Danks, D. M., Legge, G. J. F., and Mercer, J. F. B. (1998). Analysis of the distribution of Cu, Fe and Zn and other elements in brindled mouse kidney using a scanning proton microprobe. J. Inorg. Biochem. 71, 189-197. doi: 10.1016/s0162-0134(98)10053-3
    • (1998) J. Inorg. Biochem , vol.71 , pp. 189-197
    • Kirby, J.B.1    Danks, D.M.2    Legge, G.J.F.3    Mercer, J.F.B.4
  • 59
    • 58149094426 scopus 로고    scopus 로고
    • Instability of superoxide dismutase 1 of Drosophila in mutants deficient for its cognate copper chaperone
    • Kirby, K., Jensen, L. T., Binnington, J., Hilliker, A. J., Ulloa, J., Culotta, V. C., et al. (2008). Instability of superoxide dismutase 1 of Drosophila in mutants deficient for its cognate copper chaperone. J. Biol. Chem. 283, 35393-35401. doi: 10.1074/jbc.m807131200
    • (2008) J. Biol. Chem , vol.283 , pp. 35393-35401
    • Kirby, K.1    Jensen, L.T.2    Binnington, J.3    Hilliker, A.J.4    Ulloa, J.5    Culotta, V.C.6
  • 60
    • 0027236562 scopus 로고
    • Recent developments in Menkes disease
    • Kodama, H. (1993). Recent developments in Menkes disease. J. Inherit. Metab. Dis. 16, 791-799. doi: 10.1007/bf00711911
    • (1993) J. Inherit. Metab. Dis , vol.16 , pp. 791-799
    • Kodama, H.1
  • 61
    • 0027163651 scopus 로고
    • Histochemical localization of copper in the intestine and kidney of macular mice: Light and electron microscopic study
    • Kodama, H., Abe, T., Takama, M., Takahashi, I., Kodama, M., and Nishimura, M. (1993). Histochemical localization of copper in the intestine and kidney of macular mice: light and electron microscopic study. J. Histochem. Cytochem. 41, 1529-1535. doi: 10.1177/41.10.8245411
    • (1993) J. Histochem. Cytochem , vol.41 , pp. 1529-1535
    • Kodama, H.1    Abe, T.2    Takama, M.3    Takahashi, I.4    Kodama, M.5    Nishimura, M.6
  • 62
    • 79251648024 scopus 로고    scopus 로고
    • Pathology, clinical features and treatments of congenital copper metabolic disorders-focus on neurologic aspects
    • Kodama, H., Fujisawa, C., and Bhadhprasit, W. (2011). Pathology, clinical features and treatments of congenital copper metabolic disorders-focus on neurologic aspects. Brain Dev. 33, 243-251. doi: 10.1016/j.braindev.2010.10.021
    • (2011) Brain Dev , vol.33 , pp. 243-251
    • Kodama, H.1    Fujisawa, C.2    Bhadhprasit, W.3
  • 63
    • 84860505334 scopus 로고    scopus 로고
    • Inherited copper transport disorders: Biochemical mechanisms, diagnosis and treatment
    • Kodama, H., Fujisawa, C., and Bhadhprasit, W. (2012). Inherited copper transport disorders: biochemical mechanisms, diagnosis and treatment. Curr. Drug. Metab. 13, 237-250. doi: 10.2174/138920012799320455
    • (2012) Curr. Drug. Metab , vol.13 , pp. 237-250
    • Kodama, H.1    Fujisawa, C.2    Bhadhprasit, W.3
  • 64
    • 31644443196 scopus 로고    scopus 로고
    • Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease
    • Kodama, H., Sato, E., Gu, Y. H., Shiga, K., Fujisawa, C., and Kozuma, T. (2005). Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease. J. Inherit. Metab. Dis. 28, 971-978. doi: 10.1007/s10545-005-0150-6
    • (2005) J. Inherit. Metab. Dis , vol.28 , pp. 971-978
    • Kodama, H.1    Sato, E.2    Gu, Y.H.3    Shiga, K.4    Fujisawa, C.5    Kozuma, T.6
  • 65
    • 78649268169 scopus 로고    scopus 로고
    • Copper metabolism disorders affect testes structure and gamete quality in male mice
    • Kowal, M., Lenartowicz, M., Pecio, A., Golas, A., Blaszkiewicz, T., and Styrna, J. (2010). Copper metabolism disorders affect testes structure and gamete quality in male mice. Syst. Biol. Reprod. Med. 56, 431-444. doi: 10.3109/19396361003734624
    • (2010) Syst. Biol. Reprod. Med , vol.56 , pp. 431-444
    • Kowal, M.1    Lenartowicz, M.2    Pecio, A.3    Golas, A.4    Blaszkiewicz, T.5    Styrna, J.6
  • 66
    • 0022219642 scopus 로고
    • Type IX Ehlers-Danlos syndrome and Menkes syndrome: The decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein
    • Kuivaniemi, H., Peltonen, L., and Kivirikko, K. I. (1985). Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein. Am. J. Hum. Genet. 37, 798-808.
    • (1985) Am. J. Hum. Genet , vol.37 , pp. 798-808
    • Kuivaniemi, H.1    Peltonen, L.2    Kivirikko, K.I.3
  • 67
    • 0030751819 scopus 로고    scopus 로고
    • Developmental expression of the mouse mottled and toxic milk genes suggest distinct functions for the Menkes and Wilson disease copper transporters
    • Kuo, Y. M., Gitshier, J., and Packman, S. (1997). Developmental expression of the mouse mottled and toxic milk genes suggest distinct functions for the Menkes and Wilson disease copper transporters. Hum. Mol. Genet. 6, 1043-1049. doi: 10.1093/hmg/6.7.1043
    • (1997) Hum. Mol. Genet , vol.6 , pp. 1043-1049
    • Kuo, Y.M.1    Gitshier, J.2    Packman, S.3
  • 68
    • 0033046222 scopus 로고    scopus 로고
    • Intracellularlocalization and loss ofcopper responsivenessofMnk, the murine homology of the Menkes protein, in cells from blotchy (Moblo) and brindled (Mobr) mouse mutants
    • La Fontaine, S., Firth, S. D., Lockhart, P. J., Brooks, H., Camacaris, J., and Mercer, J. F. (1999). Intracellularlocalization and loss ofcopper responsivenessofMnk, the murine homology of the Menkes protein, in cells from blotchy (Moblo) and brindled (Mobr) mouse mutants. Hum. Mol. Genet. 8, 1069-1075. doi: 10.1093/hmg/8.6.1069
    • (1999) Hum. Mol.Genet , vol.8 , pp. 1069-1075
    • La Fontaine, S.1    Firth, S.D.2    Lockhart, P.J.3    Brooks, H.4    Camacaris, J.5    Mercer, J.F.6
  • 69
    • 34447103789 scopus 로고    scopus 로고
    • Trafficking of the copper-ATPases, ATP7A and ATP7B: Role in copper homeostasis
    • La Fontaine, S., and Mercer, J. F. (2007). Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis. Arch. Biochem. Biophys. 463, 149-167. doi: 10.1016/j.abb.2007.04.021
    • (2007) Arch. Biochem. Biophys , vol.463 , pp. 149-167
    • La Fontaine, S.1    Mercer, J.F.2
  • 70
    • 11244344356 scopus 로고    scopus 로고
    • Alternative splicing in the Atp7a gene in the Cu deficient mosaic mutation in mice
    • Lenartowicz, M., Grzmil, P., Rusin, M., and Styrna, J. (2004). Alternative splicing in the Atp7a gene in the Cu deficient mosaic mutation in mice. Folia Biol. (Krakow) 52, 219-223. doi: 10.3409/1734916044527610
    • (2004) Folia Biol. (Krakow) , vol.52 , pp. 219-223
    • Lenartowicz, M.1    Grzmil, P.2    Rusin, M.3    Styrna, J.4
  • 71
    • 84857293506 scopus 로고    scopus 로고
    • Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice-an animal model of Menkes disease
    • Lenartowicz, M., Grzmil, P., Shoukier, M., Starzyiiski, R., Marciniak, M., and Lipinski, P. (2012a). Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice-an animal model of Menkes disease. Metallomics 4, 197-204. doi: 10.1039/c1mt00134e
    • (2012) Metallomics , vol.4 , pp. 197-204
    • Lenartowicz, M.1    Grzmil, P.2    Shoukier, M.3    Starzyiiski, R.4    Marciniak, M.5    Lipinski, P.6
  • 72
    • 84863993869 scopus 로고    scopus 로고
    • Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDT)
    • Lenartowicz, M., Krzeptowski, W., Koteja, P., Chrzascik, K., and Moller, L. B. (2012b). Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDT). PLoS One 7:e40400. doi: 10.1371/journal.pone.0040400
    • (2012) Plos One , vol.7
    • Lenartowicz, M.1    Krzeptowski, W.2    Koteja, P.3    Chrzascik, K.4    Moller, L.B.5
  • 73
    • 0036977963 scopus 로고    scopus 로고
    • Pathological structure of the kidney from the adult mice with mosaic mutation
    • Lenartowicz, M., Kowal, M., Buda-Lewandowska, D., and Styrna, J. (2002). Pathological structure of the kidney from the adult mice with mosaic mutation. J. Inherit. Metab. Dis. 25, 647-659. doi: 10.1023/A:1022877130344
    • (2002) J. Inherit. Metab. Dis , vol.25 , pp. 647-659
    • Lenartowicz, M.1    Kowal, M.2    Buda-Lewandowska, D.3    Styrna, J.4
  • 74
    • 85088170803 scopus 로고    scopus 로고
    • Altered copper metabolism in the mosaic mutant mice
    • Lenartowicz, M., and Sasula, K. (2000). Altered copper metabolism in the mosaic mutant mice. Nutr. Res. 10, 1519-1529. doi: 10.1016/s0271-5317(00)00230-x
    • (2000) Nutr. Res , vol.10 , pp. 1519-1529
    • Lenartowicz, M.1    Sasula, K.2
  • 75
    • 0034928033 scopus 로고    scopus 로고
    • Alterations in kidney morphology in mice with mosaic mutation. Folia Histochem
    • Lenartowicz, M., Sasula, K., and Zawadowska, B. (2001). Alterations in kidney morphology in mice with mosaic mutation. Folia Histochem. Cytobiol. 39, 275-281.
    • (2001) Cytobiol , vol.39 , pp. 275-281
    • Lenartowicz, M.1    Sasula, K.2    Zawadowska, B.3
  • 76
    • 84907573474 scopus 로고    scopus 로고
    • Haemolysis and perturbations in the systemic iron metabolism of suckling, copper-deficient mosaic mutant mice-an animal model of Menkes disease
    • Lenartowicz, M., Starzynski, R. R., Krzeptowski, W., Grzmil, P., Bednarz, A., Ogorek, M., et al. (2014). Haemolysis and perturbations in the systemic iron metabolism of suckling, copper-deficient mosaic mutant mice-an animal model of Menkes disease. PLoS One 9:e107641. doi: 10.1371/journal.pone.0107641
    • (2014) Plos One , vol.9
    • Lenartowicz, M.1    Starzynski, R.R.2    Krzeptowski, W.3    Grzmil, P.4    Bednarz, A.5    Ogorek, M.6
  • 77
    • 79951681655 scopus 로고    scopus 로고
    • Alterations in the expression of the Atp7a gene in the early postnatal development in the mosaic mutant mice (Atp7amo-ms)-an animal model of Menkes disease
    • Lenartowicz, M., Starzynski, R., Wieczerzak, K., Krzeptowski, W., Lipinski, P., and Styrna, J. (2011). Alterations in the expression of the Atp7a gene in the early postnatal development in the mosaic mutant mice (Atp7amo-ms)-an animal model of Menkes disease. Gene. Expr. Patterns 11, 41-47. doi: 10.1016/j.gep.2010.09.001
    • (2011) Gene. Expr.Patterns , vol.11 , pp. 41-47
    • Lenartowicz, M.1    Starzynski, R.2    Wieczerzak, K.3    Krzeptowski, W.4    Lipinski, P.5    Styrna, J.6
  • 78
    • 77955568028 scopus 로고    scopus 로고
    • Effects of copper supplementation on the structure and content of elements in kidneys of mosaicmutantmice
    • Lenartowicz, M., Windak, R., Tylko, G., Kowal, M., and Styrna, J. (2010). Effects of copper supplementation on the structure and content of elements in kidneys of mosaicmutantmice. Biol. TraceElem. Res. 136,204-220.doi: 10.1007/s12011-009-8533-4
    • (2010) Biol. Traceelem. Res , vol.136 , pp. 204-220
    • Lenartowicz, M.1    Windak, R.2    Tylko, G.3    Kowal, M.4    Styrna, J.5
  • 79
    • 84899522040 scopus 로고    scopus 로고
    • Understanding copper sensitivity in zebrafish (Danio rerio) through the intracellular localization of copper transporters in a hepatocyte cell-line ZFL and the tissue expression profiles of copper transporters
    • Leung, K. P., Chen, D., and Chan, K. M. (2014). Understanding copper sensitivity in zebrafish (Danio rerio) through the intracellular localization of copper transporters in a hepatocyte cell-line ZFL and the tissue expression profiles of copper transporters. Metallomics 6, 1057-1067. doi: 10.1039/c3mt00366c
    • (2014) Metallomics , vol.6 , pp. 1057-1067
    • Leung, K.P.1    Chen, D.2    Chan, K.M.3
  • 80
    • 0028247206 scopus 로고
    • The mottled gene is the mouse homolog of the Menkes disease gene. Nat
    • Levinson, B., Vulpe, C., Elder, B., Martin, C., Verley, F., Packman, S., et al. (1994). The mottled gene is the mouse homolog of the Menkes disease gene. Nat. Genet. 6, 369-373. doi: 10.1038/ng0494-369
    • (1994) Genet , vol.6 , pp. 369-373
    • Levinson, B.1    Vulpe, C.2    Elder, B.3    Martin, C.4    Verley, F.5    Packman, S.6
  • 81
    • 38349167309 scopus 로고    scopus 로고
    • Copper-transporting ATP-ases ATP7A and ATP7B cousins, not twins
    • Linz, L., and Lutsenko, S. (2007). Copper-transporting ATP-ases ATP7A and ATP7B cousins, not twins. J. Bioenerg. Biomembr. 39, 403-407. doi: 10.1007/s10863-007-9101-2
    • (2007) J. Bioenerg. Biomembr , vol.39 , pp. 403-407
    • Linz, L.1    Lutsenko, S.2
  • 82
    • 84872305621 scopus 로고    scopus 로고
    • Molecular insights into the regulation of iron metabolism during the prenatal and early postnatal periods
    • Lipnski, P., Stys, A., and Starzynski, R. R. (2013). Molecular insights into the regulation of iron metabolism during the prenatal and early postnatal periods. Cell. Mol. Life Sci. 70, 23-38. doi: 10.1007/s00018-012-1018-1
    • (2013) Cell. Mol. Life Sci , vol.70 , pp. 23-38
    • Lipnski, P.1    Stys, A.2    Starzynski, R.R.3
  • 83
    • 33644774582 scopus 로고    scopus 로고
    • Correction of a mouse model of human Menkes disease by human Menkes gene
    • Llanos, R. M., Ke, B. X., Wright, M., Deal, Y., Monty, F., Kremer, D. R., et al. (2006). Correction of a mouse model of human Menkes disease by human Menkes gene. Biochim. Biophys. Acta 1762, 485-493. doi: 10.1016/j.bbadis.2005.12.011
    • (2006) Biochim. Biophys. Acta , vol.1762 , pp. 485-493
    • Llanos, R.M.1    Ke, B.X.2    Wright, M.3    Deal, Y.4    Monty, F.5    Kremer, D.R.6
  • 84
    • 33748438863 scopus 로고    scopus 로고
    • Ontogenic changes in lactoferrin receptor and DMT1 in mouse small intestine: Implications for iron absorption during early life. Biochem
    • Lopez, V., Suzuki, Y. A., and Lonnerdal, B. (2006). Ontogenic changes in lactoferrin receptor and DMT1 in mouse small intestine: implications for iron absorption during early life. Biochem. Cell Biol. 84, 337-344. doi: 10.1139/o06-059
    • (2006) Cell Biol , vol.84 , pp. 337-344
    • Lopez, V.1    Suzuki, Y.A.2    Lonnerdal, B.3
  • 85
    • 34447510930 scopus 로고    scopus 로고
    • Function and regulation of human copper-transporting ATPases
    • Lutsenko, S., Barnes, N. L., Bartee, M. Y., and Dymitriev, O. Y. (2007). Function and regulation of human copper-transporting ATPases. Physiol. Rev. 87, 1011-1046. doi: 10.1152/physrev.00004.2006
    • (2007) Physiol. Rev , vol.87 , pp. 1011-1046
    • Lutsenko, S.1    Barnes, N.L.2    Bartee, M.Y.3    Dymitriev, O.Y.4
  • 86
    • 77956330693 scopus 로고    scopus 로고
    • Copper handling machinery of the brain
    • Lutsenko, S., Bhattacharjee, A., and Hubbard, A. L. (2010). Copper handling machinery of the brain. Metallomics 2, 596-608. doi: 10.1039/c0mt00006j
    • (2010) Metallomics , vol.2 , pp. 596-608
    • Lutsenko, S.1    Bhattacharjee, A.2    Hubbard, A.L.3
  • 87
    • 0001363327 scopus 로고
    • Sex chromatin and gene action in the mammalian X-chromosome
    • Lyon, M. F. (1962). Sex chromatin and gene action in the mammalian X-chromosome. Am. J. Hum. Genet. 14, 135-148.
    • (1962) Am. J. Hum. Genet , vol.14 , pp. 135-148
    • Lyon, M.F.1
  • 88
    • 57149103308 scopus 로고    scopus 로고
    • Zebrafish mutants calamity and catastrophe define critical pathways of gene-nutrient interactions in developmental copper metabolism
    • Madsen, E. C., and Gitlin, J. D. (2008). Zebrafish mutants calamity and catastrophe define critical pathways of gene-nutrient interactions in developmental copper metabolism. PLoS Genet. 4:e1000261. doi: 10.1371/journal.pgen.1000261
    • (2008) Plos Genet , vol.4
    • Madsen, E.C.1    Gitlin, J.D.2
  • 89
    • 41649088875 scopus 로고    scopus 로고
    • In vivo correction of a Menkes disease model using antisense oligonucleotides
    • Madsen, E. C., Morcos, P. A., Mendelsohn, B. A., and Gitlin, J. D. (2008). In vivo correction of a Menkes disease model using antisense oligonucleotides. Proc. Natl. Acad. Sci. USA 105,3909-3914. doi: 10.1073/pnas.0710865105
    • (2008) Proc. Natl. Acad. Sci. USA , vol.105 , pp. 3909-3914
    • Madsen, E.C.1    Morcos, P.A.2    Mendelsohn, B.A.3    Gitlin, J.D.4
  • 91
    • 0025777805 scopus 로고
    • Copper uptake and transfer to the mouse fetus during pregnancy
    • McArdle, H. J., and Erlich, R. (1991). Copper uptake and transfer to the mouse fetus during pregnancy. J. Nutr. 121, 208-214.
    • (1991) J. Nutr , vol.121 , pp. 208-214
    • McArdle, H.J.1    Erlich, R.2
  • 92
    • 33746558633 scopus 로고    scopus 로고
    • 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., and Gitlin, J. D. (2006). Atp7a determines a hierarchy of copper metabolism essential for notochord development. Cell Metab. 4, 155-162. doi: 10.1016/j.cmet.2006.05.001
    • (2006) Cell Metab , vol.4 , pp. 155-162
    • Mendelsohn, B.A.1    Yin, C.2    Johnson, S.L.3    Wilm, T.P.4    Solnica-Krezel, L.5    Gitlin, J.D.6
  • 93
    • 78651124591 scopus 로고
    • A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration
    • Menkes, J. H., Alter, M., Steigleder, G. K., Weakley, D. R., and Sung, J. H. (1962). A sex-linked recessive disorder with retardation of growth, peculiar hair and focal cerebral and cerebellar degeneration. Pediatrics 29, 764-779.
    • (1962) Pediatrics , vol.29 , pp. 764-779
    • Menkes, J.H.1    Alter, M.2    Steigleder, G.K.3    Weakley, D.R.4    Sung, J.H.5
  • 95
    • 0028246694 scopus 로고
    • Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice
    • Mercer, J. F. B., Grimes, A., Ambrosini, L., Lockhart, P., Paynter, J. A., Dierick, H., et al. (1994). Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice. Nat. Genet. 6, 374-378. doi: 10.1038/ng0494-374
    • (1994) Nat. Genet , vol.6 , pp. 374-378
    • Mercer, J.F.B.1    Grimes, A.2    Ambrosini, L.3    Lockhart, P.4    Paynter, J.A.5    Dierick, H.6
  • 96
    • 0026660069 scopus 로고
    • Hepatic metallothionein gene expression in toxic milk mice
    • Mercer, J. F., Grimes, A., and Rauch, H. (1992). Hepatic metallothionein gene expression in toxic milk mice. J. Nutr. 122, 1254-1259.
    • (1992) J. Nutr , vol.122 , pp. 1254-1259
    • Mercer, J.F.1    Grimes, A.2    Rauch, H.3
  • 97
    • 22844450972 scopus 로고    scopus 로고
    • Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A
    • Møller, L. B., Bukrinsky, J. T., Mølgaard, A., Paulsen, M., Lund, C., Tumer, Z., et al. (2005). Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. Hum. Mutat. 26, 84-93. doi: 10.1002/humu.20190
    • (2005) Hum. Mutat , vol.26 , pp. 84-93
    • Møller, L.B.1    Bukrinsky, J.T.2    Mølgaard, A.3    Paulsen, M.4    Lund, C.5    Tumer, Z.6
  • 98
    • 69749106065 scopus 로고    scopus 로고
    • Molecular diagnosis of Menkes disease: Genotype-phenotype correlation
    • Møller, L. B., Mogensen, M., and Horn, N. (2009). Molecular diagnosis of Menkes disease: genotype-phenotype correlation. Biochimie 91, 1273-1277. doi: 10.1016/j.biochi.2009.05.011
    • (2009) Biochimie , vol.91 , pp. 1273-1277
    • Møller, L.B.1    Mogensen, M.2    Horn, N.3
  • 99
    • 0000241356 scopus 로고    scopus 로고
    • Similar splice-site mutations of the ATP7A gene lead to different phenotypes: Classical Menkes disease or occipital horn syndrome
    • Møller, L. B., Tumer, Z., Lund, C., Petersen, C., Cole, T., Hanusch, R., et al. (2000). Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Am. J. Hum. Genet. 66, 1211-1220. doi: 10.1086/302857
    • (2000) Am. J. Hum. Genet , vol.66 , pp. 1211-1220
    • Møller, L.B.1    Tumer, Z.2    Lund, C.3    Petersen, C.4    Cole, T.5    Hanusch, R.6
  • 100
    • 0031153977 scopus 로고    scopus 로고
    • A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse
    • Mori, M., and Nishimura, A. (1997). A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse. Mamm. Genome 8, 407-410.doi: 10.1007/s003359900457
    • (1997) Mamm. Genome , vol.8 , pp. 407-410
    • Mori, M.1    Nishimura, A.2
  • 101
    • 30944461332 scopus 로고    scopus 로고
    • Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: Anewmurine model ofMenkes disease
    • Mototani, Y., Miyoshi, I., Okamura, T., Moriya, T., Meng, Y., Yuan Pei, X., et al. (2006). Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: anewmurine model ofMenkes disease. Genomics 87,191-199. doi: 10.1016/j.ygeno.2005.09.011
    • (2006) Genomics , vol.87 , pp. 191-199
    • Mototani, Y.1    Miyoshi, I.2    Okamura, T.3    Moriya, T.4    Meng, Y.5    Yuan Pei, X.6
  • 102
    • 84865332331 scopus 로고    scopus 로고
    • Copper-trafficking efficacy of copper-pyruvaldehyde bis(N4-methylthiosemicarbazone) on the macular mouse, an animal model ofMenkes disease
    • Munakata, M., Kodama, H., Fujisawa, C., Hiroki, T., Kimura, K., Watanabe, M., et al. (2012). Copper-trafficking efficacy of copper-pyruvaldehyde bis(N4-methylthiosemicarbazone) on the macular mouse, an animal model ofMenkes disease. Pediatr. Res. 72, 270-276. doi: 10.1038/pr.2012.85
    • (2012) Pediatr. Res , vol.72 , pp. 270-276
    • Munakata, M.1    Kodama, H.2    Fujisawa, C.3    Hiroki, T.4    Kimura, K.5    Watanabe, M.6
  • 103
    • 0030768062 scopus 로고    scopus 로고
    • Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease
    • Murata, Y., Kodama, H., Abe, T., Ishida, N., Nishimura, M., Lewinson, B., et al. (1997). Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease. Pediatr. Res. 42, 436-442. doi: 10.1203/00006450-199710000-00003
    • (1997) Pediatr. Res , vol.42 , pp. 436-442
    • Murata, Y.1    Kodama, H.2    Abe, T.3    Ishida, N.4    Nishimura, M.5    Lewinson, B.6
  • 104
    • 0023785090 scopus 로고
    • Menkes’ disease: Long-term treatment with copper and D-penicillamine
    • Nadal, D., and Baerlocher, K. (1988). Menkes’ disease: long-term treatment with copper and D-penicillamine. Eur. J. Pediatr. 147, 621-625. doi: 10.1007/bf00442477
    • (1988) Eur. J. Pediatr , vol.147 , pp. 621-625
    • Nadal, D.1    Baerlocher, K.2
  • 105
    • 0000338915 scopus 로고
    • Production of normal macular mouse chimeras: The presence of critical tissue in the macular mutant mouse, a model of Menkes’ kinky hair disease
    • Nakagawa, S., Adachi, R., Mijake, M., Hama, T., Tanaka, K., and Mayumi, T. (1993). Production of normal macular mouse chimeras: the presence of critical tissue in the macular mutant mouse, a model of Menkes’ kinky hair disease. Zool. Scie. 10, 653-660.
    • (1993) Zool. Scie , vol.10 , pp. 653-660
    • Nakagawa, S.1    Adachi, R.2    Mijake, M.3    Hama, T.4    Tanaka, K.5    Mayumi, T.6
  • 106
    • 69249214232 scopus 로고    scopus 로고
    • Copper deficiency in rodents alters dopamine beta-mono-oxygenase activity, mRNA and protein level
    • Nelson, K. T., and Prohaska, J. R. (2009). Copper deficiency in rodents alters dopamine beta-mono-oxygenase activity, mRNA and protein level. Br. J. Nutr. 102, 18-28. doi: 10.1017/s0007114508162961
    • (2009) Br. J. Nutr , vol.102 , pp. 18-28
    • Nelson, K.T.1    Prohaska, J.R.2
  • 107
    • 34548348802 scopus 로고    scopus 로고
    • Altered ATP7A expression and other compensatory responses in a murine model ofMenkes disease
    • Niciu, M. J., Ma, X. M., El Meskini, R., Pachter, J. S., Mains, R. E., and Eipper, B. A. (2007). Altered ATP7A expression and other compensatory responses in a murine model ofMenkes disease. Neurobiol Dis. 27, 278-291. doi: 10.1016/j.nbd.2007.05.004
    • (2007) Neurobiol Dis , vol.27 , pp. 278-291
    • Niciu, M.J.1    Ma, X.M.2    El Meskini, R.3    Pachter, J.S.4    Mains, R.E.5    Eipper, B.A.6
  • 108
    • 33746727678 scopus 로고    scopus 로고
    • Developmental changes in the expression of the Atp7a during a critical period in postnatal neurodevelopment
    • Niciu, M. J., Ma, X. M., El Meskini, R., Ronnett, G. V., Mains, R. E., and Eipper, B. A. (2006). Developmental changes in the expression of the Atp7a during a critical period in postnatal neurodevelopment. Neuroscience 139, 947-964. doi: 10.1016/j.neuroscience.2006.01.044
    • (2006) Neuroscience , vol.139 , pp. 947-964
    • Niciu, M.J.1    Ma, X.M.2    El Meskini, R.3    Ronnett, G.V.4    Mains, R.E.5    Eipper, B.A.6
  • 109
    • 23944489345 scopus 로고    scopus 로고
    • Thyrotropin-releasing hormone (Protirelin) inhibits potassium-stimulated glutamate and aspartate release from hippocampal slices in vitro
    • Nie, Y., Schoepp, D. D., Klaunig, J. E., Yard, M., Lahiri, D. K., and Kubek, M. J. (2005). Thyrotropin-releasing hormone (protirelin) inhibits potassium-stimulated glutamate and aspartate release from hippocampal slices in vitro. Brain Res. 1054, 45-54. doi: 10.1016/j.brainres.2005.06.077
    • (2005) Brain Res , vol.1054 , pp. 45-54
    • Nie, Y.1    Schoepp, D.D.2    Klaunig, J.E.3    Yard, M.4    Lahiri, D.K.5    Kubek, M.J.6
  • 110
    • 30044445876 scopus 로고    scopus 로고
    • Essential roles in development and pigmentation for the Drosophila copper transporter DmATP7
    • Norgate, M., Lee, E., Southon, A., Farlow, A., Batterham, P., Camakaris, J., et al. (2006). Essential roles in development and pigmentation for the Drosophila copper transporter DmATP7. Mol. Biol. Cell 17, 475-484. doi: 10.1091/mbc.e05-06-0492
    • (2006) Mol. Biol. Cell , vol.17 , pp. 475-484
    • Norgate, M.1    Lee, E.2    Southon, A.3    Farlow, A.4    Batterham, P.5    Camakaris, J.6
  • 111
    • 34248666410 scopus 로고    scopus 로고
    • Copper homeostasis gene discovery in Drosophila melanogaster
    • Norgate, M., Southon, A., Zou, S., Zhan, M., Sun, Y., Batterham, P., et al. (2007). Copper homeostasis gene discovery in Drosophila melanogaster. Biometals 20, 683-697. doi: 10.1007/s10534-006-9075-2
    • (2007) Biometals , vol.20 , pp. 683-697
    • Norgate, M.1    Southon, A.2    Zou, S.3    Zhan, M.4    Sun, Y.5    Batterham, P.6
  • 112
    • 84863448666 scopus 로고    scopus 로고
    • Lumenal loop M672-P707 of the Menkes protein (ATP7A) transfers copper to peptidylglycine monooxygenase
    • Otoikhian, A., Barry, A. N., Mayfield, M., Nilges, M., Huang, Y., Lutsenko, S., et al. (2012). Lumenal loop M672-P707 of the Menkes protein (ATP7A) transfers copper to peptidylglycine monooxygenase. J. Am. Chem. Soc. 134, 10458-10468. doi: 10.1021/ja301221s
    • (2012) J. Am. Chem. Soc , vol.134 , pp. 10458-10468
    • Otoikhian, A.1    Barry, A.N.2    Mayfield, M.3    Nilges, M.4    Huang, Y.5    Lutsenko, S.6
  • 113
    • 0030856558 scopus 로고    scopus 로고
    • A novel glycosylphosphatidylinositol-anchored form of ceruloplasmin is expressed by mammalian astrocytes
    • Patel, B. N., and David, S. (1997). A novel glycosylphosphatidylinositol-anchored form of ceruloplasmin is expressed by mammalian astrocytes. J. Biol. Chem. 272, 20185-20190. doi: 10.1074/jbc.272.32.20185
    • (1997) J. Biol. Chem , vol.272 , pp. 20185-20190
    • Patel, B.N.1    David, S.2
  • 114
    • 0034703872 scopus 로고    scopus 로고
    • The Menkes copper transporter is required for the activation of tyrosinase
    • Petris, M. J., Strausak, D., and Mercer, J. F. (2000). The Menkes copper transporter is required for the activation of tyrosinase. Hum. Mol. Genet. 9, 2845-2851. doi: 10.1093/hmg/9.19.2845
    • (2000) Hum. Mol.Genet , vol.9 , pp. 2845-2851
    • Petris, M.J.1    Strausak, D.2    Mercer, J.F.3
  • 115
    • 0022449974 scopus 로고
    • Comparisons of copper deficiency states in the murine mutants blotchy and brindled. Changes in copper-dependent enzyme activity in 13-day-old mice
    • Phillips, M., Camakaris, J., and Danks, D. M. (1986). Comparisons of copper deficiency states in the murine mutants blotchy and brindled. Changes in copper-dependent enzyme activity in 13-day-old mice. Biochem. J. 238, 177-183. doi: 10.1042/bj2380177
    • (1986) Biochem. J , vol.238 , pp. 177-183
    • Phillips, M.1    Camakaris, J.2    Danks, D.M.3
  • 116
    • 0025828760 scopus 로고
    • A comparison of phenotype and copper distribution in blotchy and brindled mutant mice and in nutritionallycopperdeficientcontrols
    • Phillips, M., Camakaris, J., and Danks, D. M. (1991). A comparison of phenotype and copper distribution in blotchy and brindled mutant mice and in nutritionallycopperdeficientcontrols. Biol. TraceElem. Res. 29,11-29. doi: 10.1007/bf03032670
    • (1991) Biol. Traceelem. Res , vol.29 , pp. 11-29
    • Phillips, M.1    Camakaris, J.2    Danks, D.M.3
  • 117
    • 84903993789 scopus 로고    scopus 로고
    • Zebrafish models in translational research: Tipping the scales toward advancements in human health
    • Phillips, J. B., and Westerfield, M. (2014). Zebrafish models in translational research: tipping the scales toward advancements in human health. Dis. Model. Mech. 7, 739-743. doi: 10.1242/dmm.015545
    • (2014) Dis. Model. Mech , vol.7 , pp. 739-743
    • Phillips, J.B.1    Westerfield, M.2
  • 118
    • 0036953710 scopus 로고    scopus 로고
    • X-linked recessive Menkes disease: Identification of partial gene deletions in affected males
    • Poulsen, L., Horn, N., Heilstrup, H., Lund, C., Tumer, Z., and Møller, L. B. (2002). X-linked recessive Menkes disease: identification of partial gene deletions in affected males. Clin. Genet. 62, 449-457. doi: 10.1034/j.1399-0004.2002.620605.x
    • (2002) Clin.Genet , vol.62 , pp. 449-457
    • Poulsen, L.1    Horn, N.2    Heilstrup, H.3    Lund, C.4    Tumer, Z.5    Møller, L.B.6
  • 119
    • 80755132307 scopus 로고    scopus 로고
    • Menkes disease and infantile epilepsy
    • Prasad, A. N., Levin, S., Rupar, C. A., and Prasad, C. (2011). Menkes disease and infantile epilepsy. Brain Dev. 33, 866-876. doi: 10.1016/j.braindev.2011.08.002
    • (2011) Brain Dev , vol.33 , pp. 866-876
    • Prasad, A.N.1    Levin, S.2    Rupar, C.A.3    Prasad, C.4
  • 120
    • 0021087046 scopus 로고
    • Changes in tissue growth, concentrations of copper, iron, cytochrome oxidase and superoxide dismutase subsequent to dietary or genetic copper deficiencyin mice
    • Prohaska, J. R. (1983). Changes in tissue growth, concentrations of copper, iron, cytochrome oxidase and superoxide dismutase subsequent to dietary or genetic copper deficiencyin mice. J. Nutr. 113, 2048-2058.
    • (1983) J. Nutr , vol.113 , pp. 2048-2058
    • Prohaska, J.R.1
  • 121
    • 0007760388 scopus 로고
    • Effect of dietary copper deficiency on heterozygous female brindled mice
    • Prohaska, J. R. (1988). Effect of dietary copper deficiency on heterozygous female brindled mice. Nutr. Res. 8, 1079-1084. doi: 10.1016/s0271-317(88)80063-0
    • (1988) Nutr. Res , vol.8 , pp. 1079-1084
    • Prohaska, J.R.1
  • 122
    • 84858275997 scopus 로고    scopus 로고
    • Impact of copper limitation on expression and function of multicopper oxidases (Ferroxidases)
    • Prohaska, J. R. (2011). Impact of copper limitation on expression and function of multicopper oxidases (ferroxidases). Adv. Nutr. 2, 89-95. doi: 10.3945/an.110.000208
    • (2011) Adv. Nutr , vol.2 , pp. 89-95
    • Prohaska, J.R.1
  • 123
    • 33344459378 scopus 로고    scopus 로고
    • Plasma peptidylglycine alpha-amidating monooxygenase (PAM) and ceruloplasmin are affected by age and copper status in rats and mice. Comp. Biochem. Physiol. B Biochem
    • Prohaska, J. R., and Broderius, K. (2006). Plasma peptidylglycine alpha-amidating monooxygenase (PAM) and ceruloplasmin are affected by age and copper status in rats and mice. Comp. Biochem. Physiol. B Biochem. Mol. Biol. 143, 360-366. doi: 10.1016/j.cbpb.2005.12.010
    • (2006) Mol. Biol , vol.143 , pp. 360-366
    • Prohaska, J.R.1    Broderius, K.2
  • 124
    • 0029792846 scopus 로고    scopus 로고
    • Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype
    • Proud, V. K., Mussell, H. G., Kaler, S. G., Young, D. W., and Percy, A. K. (1996). Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. Am. J. Med. Genet. 65, 44-51. doi: 10.1002/(sici)1096-8628(19961002)65:1<44::aid-ajmg7>3.0.co;2-y
    • (1996) Am. J. Med. Genet , vol.65 , pp. 44-51
    • Proud, V.K.1    Mussell, H.G.2    Kaler, S.G.3    Young, D.W.4    Percy, A.K.5
  • 125
    • 0031934417 scopus 로고    scopus 로고
    • Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the occipital horn syndrome
    • Qi, M., and Byers, P. H. (1998). Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the Menkes protein and produces the occipital horn syndrome. Hum. Mol. Genet. 7, 465-469. doi: 10.1093/hmg/7.3.465
    • (1998) Hum. Mol.Genet , vol.7 , pp. 465-469
    • Qi, M.1    Byers, P.H.2
  • 126
    • 0031048445 scopus 로고    scopus 로고
    • Mutation analysis provides additional proof that mottled is the mouse homolog ofMenkes disease
    • Reed, V., and Boyd, Y. (1997). Mutation analysis provides additional proof that mottled is the mouse homolog ofMenkes disease. Hum. Mol. Genet. 6,417-423. doi: 10.1093/hmg/6.3.417
    • (1997) Hum. Mol.Genet , vol.6 , pp. 417-423
    • Reed, V.1    Boyd, Y.2
  • 127
    • 12144291522 scopus 로고    scopus 로고
    • Anticonvulsant and antiepileptogenic effects mediated by adeno-associated virus vector neuropeptide Y expression in the rat hippocampus
    • Richichi, C., Lin, E. J., Stefanin, D., Colella, D., Ravizza, T., Grignaschi, G., et al. (2004). Anticonvulsant and antiepileptogenic effects mediated by adeno-associated virus vector neuropeptide Y expression in the rat hippocampus. J. Neurosci. 24, 3051-3059. doi: 10.1523/jneurosci.4056-03.2004
    • (2004) J. Neurosci , vol.24 , pp. 3051-3059
    • Richichi, C.1    Lin, E.J.2    Stefanin, D.3    Colella, D.4    Ravizza, T.5    Grignaschi, G.6
  • 128
    • 0015979607 scopus 로고
    • A sex-linked defect in the cross-linking of collagen and elastin Animal Models of Menkes Disease Lenartowicz et al. Associated with the mottled locus in mice
    • Rowe, D. W., McGoodwin, E. B., Martin, G. R., Sussman, M. D., Grahn, D., Faris, B., et al. (1974). A sex-linked defect in the cross-linking of collagen and elastin Animal Models of Menkes Disease Lenartowicz et al. associated with the mottled locus in mice. J. Exp. Med. 139, 180-192. doi: 10.1084/jem.139.1.180
    • (1974) J. Exp. Med , vol.139 , pp. 180-192
    • Rowe, D.W.1    McGoodwin, E.B.2    Martin, G.R.3    Sussman, M.D.4    Grahn, D.5    Faris, B.6
  • 129
    • 0020064391 scopus 로고
    • Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) mice
    • Royce, P. M., Camakaris, J., Mann, J. R., and Danks, D. M. (1982). Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) mice. Biochem. J. 202, 369-371. doi: 10.1042/bj2020369
    • (1982) Biochem. J , vol.202 , pp. 369-371
    • Royce, P.M.1    Camakaris, J.2    Mann, J.R.3    Danks, D.M.4
  • 130
    • 0025336606 scopus 로고
    • Markedlyreduced activity oflysyl oxidase in skin and aorta from a patient with Menkes’ disease showing unusually severe connective tissue manifestations
    • Royce, P. M., and Steinmann, B. (1990). Markedlyreduced activity oflysyl oxidase in skin and aorta from a patient with Menkes’ disease showing unusually severe connective tissue manifestations. Pediatr. Res. 28, 137-141. doi: 10.1203/00006450-199008000-00012
    • (1990) Pediatr. Res , vol.28 , pp. 137-141
    • Royce, P.M.1    Steinmann, B.2
  • 132
    • 84867574016 scopus 로고    scopus 로고
    • Functional significance of the copper transporter ATP7 in peptidergic neurons and endocrine cells in Drosophila melanogaster
    • Sellami, A., Wegener, C., and Veenstra, J. A. (2012). Functional significance of the copper transporter ATP7 in peptidergic neurons and endocrine cells in Drosophila melanogaster. FEBS Lett. 586, 3633-3638. doi: 10.1016/j.febslet.2012.08.009
    • (2012) FEBS Lett , vol.586 , pp. 3633-3638
    • Sellami, A.1    Wegener, C.2    Veenstra, J.A.3
  • 133
    • 0029153756 scopus 로고
    • Cerebellar superoxide dismutase expression in Menkes’ kinky hair disease: An immunohistochemical investigation
    • Shibata, N., Hirano, A., Kobayashi, M., Umahara, T., Kawanami, T., and Asayama, K. (1995). Cerebellar superoxide dismutase expression in Menkes’ kinky hair disease: an immunohistochemical investigation. Acta Neuropathol. 90, 198-202. doi: 10.1007/bf00294321
    • (1995) Acta Neuropathol , vol.90 , pp. 198-202
    • Shibata, N.1    Hirano, A.2    Kobayashi, M.3    Umahara, T.4    Kawanami, T.5    Asayama, K.6
  • 134
    • 0023686964 scopus 로고
    • Copper metabolism in the macular mutant mouse: An animal model of Menkes Kinky-Hair disease
    • Shiraishi, N., Aono, K., and Tagauchi, T. (1988). Copper metabolism in the macular mutant mouse: an animal model of Menkes Kinky-Hair disease. Biol. Neonate 54, 173-180. doi: 10.1159/000242849
    • (1988) Biol. Neonate , vol.54 , pp. 173-180
    • Shiraishi, N.1    Aono, K.2    Tagauchi, T.3
  • 135
    • 84939668940 scopus 로고
    • Epiphyseal growth and osteoarthrosis in blotchy mice
    • Silberberg, R. (1977). Epiphyseal growth and osteoarthrosis in blotchy mice. Exp. Cell Biol. 45, 1-8. doi: 10.1159/000162853
    • (1977) Exp. Cell Biol , vol.45 , pp. 1-8
    • Silberberg, R.1
  • 137
    • 79954452583 scopus 로고    scopus 로고
    • Splice site mutations in the ATP7A gene
    • Skjørringe, T., Turner, Z., and Møller, L. B. (2011). Splice site mutations in the ATP7A gene. PLoS One 11:e18599. doi: 10.1371/journal.pone.0018599
    • (2011) Plos One , vol.11
    • Skjørringe, T.1    Turner, Z.2    Møller, L.B.3
  • 139
    • 78650254007 scopus 로고    scopus 로고
    • Conservation of copper-transporting P(IB)-type ATPase function
    • Southon, A., Palstra, N., Veldhuis, N., Gaeth, A., Robin, C., Burke, R., et al. (2010). Conservation of copper-transporting P(IB)-type ATPase function. Biometals 23, 681-694. doi: 10.1007/s10534-010-9332-2
    • (2010) Biometals , vol.23 , pp. 681-694
    • Southon, A.1    Palstra, N.2    Veldhuis, N.3    Gaeth, A.4    Robin, C.5    Burke, R.6
  • 140
    • 0037225452 scopus 로고    scopus 로고
    • Menkes protein contributes to the function of peptidylglycine a-amidating monooxygenase
    • Steveson, T. C., Ciccotosto, G. D., Ma, X. M., Mueller, G. P., Mains, R. E., and Eipper, B. A. (2003). Menkes protein contributes to the function of peptidylglycine a-amidating monooxygenase. Endocrinology 144, 188-200. doi: 10.1210/en.2002-220716
    • (2003) Endocrinology , vol.144 , pp. 188-200
    • Steveson, T.C.1    Ciccotosto, G.D.2    Ma, X.M.3    Mueller, G.P.4    Mains, R.E.5    Eipper, B.A.6
  • 141
    • 0017344144 scopus 로고
    • Analysis of causes of lethality in mice with Ms (Mosaic) gene
    • Styrna, J. (1977). Analysis of causes of lethality in mice with Ms (mosaic) gene. Genet. Polon. 18, 61-79.
    • (1977) Genet. Polon , vol.18 , pp. 61-79
    • Styrna, J.1
  • 142
    • 0032769249 scopus 로고    scopus 로고
    • Intracellular localization of Menkes and Wilson disease proteins and their intracellular copper transport
    • Suzuki, M., and Gitlin, J. D. (1999). Intracellular localization of Menkes and Wilson disease proteins and their intracellular copper transport. Pediatr. Int. 41, 436-442. doi: 10.1046/j.1442-200x.1999.01090.x
    • (1999) Pediatr. Int , vol.41 , pp. 436-442
    • Suzuki, M.1    Gitlin, J.D.2
  • 143
    • 0030687606 scopus 로고    scopus 로고
    • Copper-metallotionein in the kidney of macular mice: A model for Menkes disease
    • Suzuki-Kurasaki, M., Okabe, M., and Kurasaki, M. (1997). Copper-metallotionein in the kidney of macular mice: a model for Menkes disease. J. Histochem. Cytochem. 45, 1493-1501. doi: 10.1177/002215549704501106
    • (1997) J. Histochem. Cytochem , vol.45 , pp. 1493-1501
    • Suzuki-Kurasaki, M.1    Okabe, M.2    Kurasaki, M.3
  • 145
    • 33751079354 scopus 로고    scopus 로고
    • Functional copper transport explains neurologic sparing in occipital horn syndrome
    • Tang, J., Robertson, S., Lem, K. E., Godwin, S. C., and Kaler, S. G. (2006). Functional copper transport explains neurologic sparing in occipital horn syndrome. Genet. Med. 8,711-718. doi: 10.1097/01.gim.0000245578.94312.1e
    • (2006) Genet. Med , vol.8 , pp. 711-718
    • Tang, J.1    Robertson, S.2    Lem, K.E.3    Godwin, S.C.4    Kaler, S.G.5
  • 146
    • 84897366042 scopus 로고    scopus 로고
    • Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis
    • Telianidis, J., Hung, Y. H., Materia, S., and Fontaine, S. L. (2013). Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis. Front. Aging Neurosci. 5:44. doi: 10.3389/fnagi.2013.00044
    • (2013) Front. Aging Neurosci , vol.5 , pp. 44
    • Telianidis, J.1    Hung, Y.H.2    Materia, S.3    Fontaine, S.L.4
  • 147
    • 84873960382 scopus 로고    scopus 로고
    • An overview and update ofATP7A mutations leadingtoMenkes disease and occipital horn syndrome
    • Tumer, Z. (2013).An overview and update ofATP7A mutations leadingtoMenkes disease and occipital horn syndrome. Hum. Mutat. 34, 417-429. doi: 10.1002/humu.22266
    • (2013) Hum. Mutat , vol.34 , pp. 417-429
    • Tumer, Z.1
  • 148
    • 17944404308 scopus 로고    scopus 로고
    • Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A
    • Tumer, Z., Birk Møller, L., and Horn, N. (2003). Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. Hum. Mutat. 22, 457-464. doi: 10.1002/humu.10287
    • (2003) Hum. Mutat , vol.22 , pp. 457-464
    • Tumer, Z.1    Birk Møller, L.2    Horn, N.3
  • 150
    • 77951622872 scopus 로고    scopus 로고
    • Menkes disease
    • Tumer, Z., and M0ller, L. B. (2010). Menkes disease. Eur. J. Hum. Genet. 5, 511-518. doi: 10.1038/ejhg.2009.187
    • (2010) Eur. J. Hum. Genet. , vol.5 , pp. 511-518
    • Tumer, Z.1    Møller, L.B.2
  • 151
    • 72049105823 scopus 로고    scopus 로고
    • Posttranslational regulation of copper transporters
    • van den Berghe, P. V., and Klomp, L. W. (2010). Posttranslational regulation of copper transporters. J. Biol. Inorg. Chem. 15, 37-46. doi: 10.1007/s00775-009-0592-7
    • (2010) J. Biol. Inorg. Chem , vol.15 , pp. 37-46
    • Van Den Berghe, P.V.1    Klomp, L.W.2
  • 152
    • 36949008754 scopus 로고    scopus 로고
    • Intranasal delivery of a thyrotropin-releasing hormone analog attenuates seizures in the amygdala-kindled rat
    • Veronesi, M. C., Kubek, D. J., and Kubek, M. J. (2007). Intranasal delivery of a thyrotropin-releasing hormone analog attenuates seizures in the amygdala-kindled rat. Epilepsia 48, 2280-2286. doi: 10.1111/j.1528-1167.2007.01218.x
    • (2007) Epilepsia , vol.48 , pp. 2280-2286
    • Veronesi, M.C.1    Kubek, D.J.2    Kubek, M.J.3
  • 153
    • 84907983587 scopus 로고    scopus 로고
    • Epilepsy in Menkes disease: An electroclinical long-term study of 28 patients
    • Verrotti, A., Cusmai, R., Darra, F., Martelli, P., Accorsi, P., Bergamo, S., et al. (2014). Epilepsy in Menkes disease: an electroclinical long-term study of 28 patients. Epilepsy Res. 108, 1597-1603. doi: 10.1016/j.eplepsyres.2014.08.006
    • (2014) Epilepsy Res , vol.108 , pp. 1597-1603
    • Verrotti, A.1    Cusmai, R.2    Darra, F.3    Martelli, P.4    Accorsi, P.5    Bergamo, S.6
  • 154
    • 69949088488 scopus 로고    scopus 로고
    • Hepcidin, the iron watcher
    • Viatte, L., and Vaulont, S. (2009). Hepcidin, the iron watcher. Biochimie 91, 1223-1228. doi: 10.1016/j.biochi.2009.06.012
    • (2009) Biochimie , vol.91 , pp. 1223-1228
    • Viatte, L.1    Vaulont, S.2
  • 155
    • 0032909207 scopus 로고    scopus 로고
    • 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., et al. (1999). Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse. Nat. Genet. 21, 195-199. doi: 10.1038/5979
    • (1999) Nat. Genet , vol.21 , pp. 195-199
    • Vulpe, C.D.1    Kuo, Y.M.2    Murphy, T.L.3    Cowley, L.4    Askwith, C.5    Libina, N.6
  • 156
    • 0021019230 scopus 로고
    • Congenital copper deficiency: Copper therapy and dopamine-beta-hydroxylase activity in the mottled (brindled) mouse
    • Wenk, G., and Suzuki, K. (1983). Congenital copper deficiency: copper therapy and dopamine-beta-hydroxylase activity in the mottled (brindled) mouse. J. Neurochem. 41, 1648-1652. doi: 10.1111/j.1471-4159.1983.tb00876.x
    • (1983) J. Neurochem , vol.41 , pp. 1648-1652
    • Wenk, G.1    Suzuki, K.2
  • 158
    • 0028606530 scopus 로고
    • Copper distribution in fetus and placenta of the macular mutant mouse as a model of Menkes kinky hair disease
    • Xu, G. Q., Yamano, T., and Shimada, M. (1994). Copper distribution in fetus and placenta of the macular mutant mouse as a model of Menkes kinky hair disease. Biol.Neonate 66, 302-310.doi: 10.1159/000244121
    • (1994) Biol.Neonate , vol.66 , pp. 302-310
    • Xu, G.Q.1    Yamano, T.2    Shimada, M.3
  • 160
    • 84900011983 scopus 로고    scopus 로고
    • ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A
    • Yi, L., and Kaler, S. (2014). ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A. Ann. N Y Acad. Sci. 1314, 49-54. doi: 10.1111/nyas.12427
    • (2014) Ann. N Y Acad. Sci , vol.1314 , pp. 49-54
    • Yi, L.1    Kaler, S.2
  • 161
    • 0028895749 scopus 로고
    • 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., et al. (1995). A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans. Nat. Genet. 9, 267-272. doi: 10.1038/ng0395-267
    • (1995) Nat. Genet , vol.9 , pp. 267-272
    • Yoshida, K.1    Furihata, K.2    Takeda, S.3    Nakamura, A.4    Yamamoto, K.5    Morita, H.6
  • 162
    • 33747604644 scopus 로고    scopus 로고
    • Urological complication and copper replacement in childhood Menkes syndrome
    • Zaffanello, M., Maffeis, C., Fanos, V., Franchini, M., and Zamboni, G. (2006). Urological complication and copper replacement in childhood Menkes syndrome. Acta Pediatr. 95, 785-790. doi: 10.1111/j.1651-2227.2006.tb02341.x
    • (2006) Acta Pediatr , vol.95 , pp. 785-790
    • Zaffanello, M.1    Maffeis, C.2    Fanos, V.3    Franchini, M.4    Zamboni, G.5
  • 163
    • 0036667555 scopus 로고    scopus 로고
    • Superoxide dismutase multigene family: A comparison of the CuZn-SOD (SOD1), Mn-SOD (SOD2) and EC-SOD (SOD3) gene structures, evolution and expression
    • Zelko, I. N., Marian, T. J., and Folz, R. J. (2002). Superoxide dismutase multigene family: a comparison of the CuZn-SOD (SOD1), Mn-SOD (SOD2) and EC-SOD (SOD3) gene structures, evolution and expression. Free Radic. Biol. Med. 33, 337-349. doi: 10.1016/s0891-5849(02)00905-x
    • (2002) Free Radic. Biol. Med , vol.33 , pp. 337-349
    • Zelko, I.N.1    Marian, T.J.2    Folz, R.J.3
  • 164
    • 84856489978 scopus 로고    scopus 로고
    • Regulation of brain iron and copper homeostasis by brain barrier systems: Implication in neurodegenerative diseases. Pharmacol
    • Zheng, W., and Monnot, A. D. (2012). Regulation of brain iron and copper homeostasis by brain barrier systems: implication in neurodegenerative diseases. Pharmacol. Ther. 133, 177-188. doi: 10.1016/j.pharmthera.2011.10.006
    • (2012) Ther , vol.133 , pp. 177-188
    • Zheng, W.1    Monnot, A.D.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.