| 1 | ATP7A, ATP7B, DBH
|
| ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-β-hydroxylase
|
| Schmidt K, Ralle M, Schaffer T, Jayakanthan S, Bari B, Muchenditsi A, Lutsenko S.
|
| J Biol Chem. Dec 28;293(52):20085-20098. doi: 10.1074/jbc.RA118.004889. Epub 2018 Oct 19. 2018
|
| 2 | ATP7A, DSMAX
|
| ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.
|
| Yi L, Kaler S.
|
| Ann N Y Acad Sci 1314:49-54. doi: 10.1111/nyas.12427. Epub 2014 Apr 22.
2014
|
| 3 | ATP7A, COX19, SCO1
|
| COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux.
|
| Leary SC, Cobine PA, Nishimura T, Verdijk RM, de Krijger R, de Coo R, Tarnopolsky MA, Winge DR, Shoubridge EA.
|
| Mol Biol Cell 24(6):683-91. doi: 10.1091/mbc.E12-09-0705. Epub 2013 Jan 23.
2013
|
| 4 | ATP7A
|
| Copper transporter ATP7A protects against endothelial dysfunction in type 1 diabetic mice by regulating extracellular superoxide dismutase.
|
| Sudhahar V, Urao N, Oshikawa J, McKinney RD, Llanos RM, Mercer JF, Ushio-Fukai M, Fukai T.
|
| Diabetes 62(11):3839-50. doi: 10.2337/db12-1228. Epub 2013 Jul 24.
2013
|
| 5 | ATP7A
|
| Copper stabilizes the Menkes copper-transporting ATPase (Atp7a) protein expressed in rat intestinal epithelial cells.
|
| Xie L, Collins JF.
|
| Am J Physiol Cell Physiol 304(3):C257-62. doi: 10.1152/ajpcell.00336.2012. Epub 2012 Nov 21.
2013
|
| 6 | ATP7A, VCP
|
| Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
|
| Yi L, Donsante A, Kennerson ML, Mercer JF, Garbern JY, Kaler SG.
|
| Hum Mol Genet 21(8):1794-807. doi: 10.1093/hmg/ddr612. Epub 2011 Dec 30.
2012
|
| 7 | ATP7A
|
| Disruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion disease.
|
| Siggs OM, Cruite JT, Du X, Rutschmann S, Masliah E, Beutler B, Oldstone MB.
|
| Proc Natl Acad Sci U S A 109(34):13733-8. doi: 10.1073/pnas.1211499109. Epub 2012 Aug 6.
2012
|
| 8 | ATP7a, DSMAX
|
| Recent advances in the genetics of distal hereditary motor neuropathy give insight to a disease mechanism involving copper homeostasis that may extend to other motor neuron disorders.
|
| Merner ND, Dion PA, Rouleau GA.
|
| Clin Genet 79(1):23-34. doi: 10.1111/j.1399-0004.2010.01591.x.
2011
|
| 9 | ATP7A, ATP7B, CLU
|
| Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B.
|
| Materia S, Cater MA, Klomp LW, Mercer JF, La Fontaine S.
|
| J Biol Chem 286(12):10073-83. Epub 2011 Jan 17.
2011
|
| 10 | ATP7A
|
| Splice site mutations in the ATP7A gene.
|
| Skjørringe T, Tümer Z, Møller LB.
|
| PLoS One 6(4):e18599. doi: 10.1371/journal.pone.0018599.
2011
|
| 11 | ATP7A, DSMAX
|
| Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
|
| Kennerson ML, Nicholson GA, Kaler SG, Kowalski B, Mercer JF, Tang J, Llanos RM, Chu S, Takata RI, Speck-Martins CE, Baets J, Almeida-Souza L, Fischer D, Timmerman V, Taylor PE, Scherer SS, Ferguson TA, Bird TD, De Jonghe P, Feely SM, Shy ME, Garbern JY.
|
| Am J Hum Genet 86(3):343-52. Epub 2010 Feb 18.PMID: 20170900 2010
|
| 12 | ATP7A, ATP7B
|
| Cellular copper distribution: a mechanistic systems biology approach.
|
| Banci L, Bertini I, Cantini F, Ciofi-Baffoni S.
|
| Cell Mol Life Sci ell Mol Life Sci. 2010 Mar 24. [Epub ahead of print]PMID: 20333435 2010
|
| 13 | ATP7A, ATP7B
|
| Mammalian copper-transporting P-type ATPases, ATP7A and ATP7B: emerging roles.
|
| La Fontaine S, Ackland ML, Mercer JF.
|
| Int J Biochem Cell Biol 42(2):206-9. Epub 2009 Nov 13.PMID: 19922814 2010
|
| 14 | ATP7A
|
| The binding mode of ATP revealed by the solution structure of the N-domain of human ATP7A.
|
| Banci L, Bertini I, Cantini F, Inagaki S, Migliardi M, Rosato A.
|
| J Biol Chem 285(4):2537-44. Epub 2009 Nov 16.PMID: 19917612 2010
|
| 15 | ATP7A
|
| Participation of ATP7A in macrophage mediated oxidation of low density lipoprotein.
|
| Qin Z, Konaniah ES, Neltner B, Nemenoff RA, Hui DY, Weintraub NL.
|
| J Lipid Res Lipid Res. 2009 Nov 23. [Epub ahead of print]PMID: 19965596 2009
|
| 16 | ATOX1, ATP7A
|
| Copper(I)-mediated protein-protein interactions result from suboptimal interaction surfaces.
|
| Banci L, Bertini I, Calderone V, Della-Malva N, Felli IC, Neri S, Pavelkova A, Rosato A.
|
| Biochem J 422(1):37-42.PMID: 19453293 2009
|
| 17 | ATP7A, TYR
|
| Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes.
|
| Setty SR, Tenza D, Sviderskaya EV, Bennett DC, Raposo G, Marks MS.
|
| Nature 454(7208):1142-6. Epub 2008 Jul 23.
2008
|
| 18 | ATP7A, MNK
|
| Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.
|
| Tang J, Donsante A, Desai V, Patronas N, Kaler SG.
|
| Mol Genet Metab 95(3):174-81. Epub 2008 Aug 26.
2008
|
| 19 | ATP7A, MNK
|
| Purification and membrane reconstitution of catalytically active Menkes copper-transporting P-type ATPase (MNK; ATP7A).
|
| Hung YH, Layton MJ, Voskoboinik I, Mercer JF, Camakaris J.
|
| Biochem J 401(2):569-79. 2007
|
| 20 | ATP7A, MNK
|
| Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
|
| Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG.
|
| J Med Genet 44(8):492-7. Epub 2007 May 11. 2007
|
| 21 | ATOX1, ATP7A
|
| The different intermolecular interactions of the soluble copper-binding domains of the menkes protein, ATP7A.
|
| Banci L, Bertini I, Cantini F, Della-Malva N, Migliardi M, Rosato A.
|
| J Biol Chem 282(32):23140-6. Epub 2007 Jun 2.PMID: 17545667 2007
|
| 22 | ATP7A, MNK
|
| Atp7a determines a hierarchy of copper metabolism essential for notochord development.
|
| Mendelsohn BA, Yin C, Johnson SL, Wilm TP, Solnica-Krezel L, Gitlin JD.
|
| Cell Metab 4(2):155-62. 2006
|
| 23 | ATP7A, ATP7B
|
| Retinal localization and copper-dependent relocalization of the Wilson and Menkes disease proteins.
|
| Krajacic P, Qian Y, Hahn P, Dentchev T, Lukinova N, Dunaief JL.
|
| Invest Ophthalmol Vis Sci 47(7):3129-34. 2006
|
| 24 | GLRX, ATP7B, ATP7A
|
| Copper-dependent interaction of glutaredoxin with the N termini of the copper-ATPases (ATP7A and ATP7B) defective in Menkes and Wilson diseases.
|
| Lim CM, Cater MA, Mercer JF, La Fontaine S.
|
| Biochem Biophys Res Commun 348(2):428-36. Epub 2006 Jul 24. 2006
|
| 25 | ACTN4, ATP7A, ATP7B, DCTN4
|
| Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A.
|
| Lim CM, Cater MA, Mercer JF, La Fontaine S.
|
| J Biol Chem 281(20):14006-14. Epub 2006 Mar 22. 2006
|
| 26 | ATP7A, OHS
|
| Functional copper transport explains neurologic sparing in occipital horn syndrome.
|
| Tang J, Robertson S, Lem KE, Godwin SC, Kaler SG.
|
| Genet Med 8(11):711-8.
2006
|
| 27 | ATP7A, MNK, ATP7B, WND
|
| The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum.
|
| Barnes N, Tsivkovskii R, Tsivkovskaia N, Lutsenko S.
|
| J Biol Chem 280(10):9640-5. Epub 2005 Jan 5. 2005
|
| 28 | ATP7A,PDZD11
|
| A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A. A new protein implicated in copper homeostasis.
|
| Stephenson SE, Dubach D, Lim CM, Mercer JF, La Fontaine S.
|
| J Biol Chem 280(39):33270-9. Epub 2005 Jul 28. 2005
|
| 29 | MNK, ATP7A, ATP7B, WND
|
| A comparison of the mutation spectra of Menkes disease and Wilson disease.
|
| Hsi G, Cox DW.
|
| Hum Genet 114(2):165-72. Epub 2003 Oct 25. 2004
|
| 30 | ATP7A, OHS
|
| A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
|
| Dagenais SL, Adam AN, Innis JW, Glover TW.
|
| Am J Hum Genet 69(2):420-7. 2001
|
| 31 | ATP7A, MNK, OHS
|
| Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.
|
| Moller LB, Tumer Z, Lund C, Petersen C, Cole T, Hanusch R, Seidel J, Jensen LR, Horn N.
|
| Am J Hum Genet 66(4):1211-20. 2000
|
| 32 | ATP7A
|
| The Menkes copper transporter is required for the activation of tyrosinase.
|
| etris MJ, Strausak D, Mercer JF.
|
| Hum Mol Genet 9(19):2845-51. 2000
|
| 33 | ATP7A, MNK
|
| Defective copper-induced trafficking and localization of the menkes protein in patients with mild and copper-treated classical menkes disease.
|
| Ambrosini L, et al.
|
| Hum Mol Genet 8(8):1547-55. 1999
|
| 34 | ATP7A
|
| Characterization of the menkes protein copper-binding domains and their role in copper-induced protein relocalization.
|
| Goodyer ID, et al.
|
| Hum Mol Genet 8(8):1473-8. 1999
|
| 35 | ATP7A, MNK
|
| The menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal.
|
| Petris MJ, et al.
|
| Hum Mol Genet 8(11):2107-15 1999
|
| 36 | ATP7A
|
| Functional analysis of the N-terminal CXXC metal-binding motifs in the human menkes copper-transporting P-type ATPase expressed in cultured mammalian cells.
|
| Voskoboinik I, Strausak D, Greenough M, Brooks H, Petris M, Smith S, Mercer JF, Camakaris J.
|
| J Biol Chem 274(31):22008-12. 1999
|
| 37 | ATP7A, OHS
|
| 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, Byers PH.
|
| Hum Mol Genet 7(3):465-9. 1998
|
| 38 | ATP7A, MNK
|
| A Golgi localization signal identified in the Menkes recombinant protein.
|
| Francis MJ, et al.
|
| Hum Mol Genet 7 : 1245-1252. 1998
|
| 39 | ATP7A
|
| A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network.
|
| Petris MJ, et al.
|
| Hum Mol Genet 7 : 2063-2071. 1998
|
| 40 | ATP7A, MNK
|
| Identification of point mutations in 41 unrelated patients affected with Menkes disease.
|
| Tmer Z, et al.
|
| Am J Hum Genet 60 : 63-71. 1997
|
| 41 | ATP7A, MNK
|
| Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network.
|
| Dierick HA, et al.
|
| Hum Mol Genet 6 : 409-416. 1997
|
| 42 | ATP7A, OHS
|
| A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.
|
| Ronce N, Moizard MP, Robb L, Toutain A, Villard L, Moraine C.
|
| Am J Hum Genet 61(1):233-8. No abstract available. 1997
|
| 43 | ATP7A, MNK
|
| A murine model of Menkes disease reveals a physiological function of metallothionein.
|
| Kelly EJ, et al.
|
| Nat Genet 13 : 219-222. 1996
|
| 44 | ATP7A, OHS
|
| A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome.
|
| Levinson B, et al.
|
| Hum Mol Genet 5 : 1737-1742. 1996
|
| 45 | ATP7A, MNK
|
| 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 MJ, et al.
|
| EMBO J 15 : 6084-6095. 1996
|
| 46 | MNK, ATP7A
|
| Gene amplification of the Menkes (MNK ; ATP7A) P-type ATPase gene of CHOcells is associated with copper resistance and enhanced copper efflux.
|
| Camakaris J, et al.
|
| Hum Mol Genet 4 : 2117-2123. 1995
|
| 47 | OHS, MNK, ATP7A
|
| Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital Horn syndrome and the blotchy mouse.
|
| Das S, et al.
|
| Am J Hum Genet 56 : 570-576. 1995
|
| 48 | MNK, ATP7A
|
| Characterization of the exon structure of the Menkes disease gene using vectorette PCR.
|
| Tmer Z, et al.
|
| Genomics 26 : 437-442. 1995
|
| 49 | ATP7A
|
| Two highly polymorphic CA repeats in the Menkes gene (ATP7A).
|
| Begy CR, et al.
|
| Hum Genet 96 : 355-356. 1995
|
| 50 | ATP7A, MNK
|
| Molecular structure of the Menkes disease gene (ATP7A).
|
| Dierick HA, Ambrosini L, Spencer J, Glover TW, Mercer JF.
|
| Genomics 28(3):462-9. 1995
|
| 51 | ATP7A, MNK, OHS
|
| Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.
|
| Kaler SG, et al.
|
| Nat Genet 8 : 195-202. 1994
|
| 52 | ATP7A, MNK
|
| Diverse mutations in patients with menkes disease often lead to exon skipping.
|
| Das S, et al.
|
| Am J Hum Genet 55 : 883-889. 1994
|