Citations for
1ATP7A, 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
2ATP7A, 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
3ATP7A
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
4ATP7A
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
5ATP7A, 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
6ATP7A
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
7ATP7a, 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
8ATP7A, 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
9ATP7A
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
10ATP7A, 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
11ATP7A, 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
12ATP7A, 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
13ATP7A
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
14ATP7A
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
15ATOX1, 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
16ATP7A, 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
17ATP7A, 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
18ATP7A, 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
19ATP7A, 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
20ATOX1, 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
21ATP7A, 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
22ATP7A, 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
23GLRX, 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
24ACTN4, 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
25ATP7A, 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
26ATP7A, 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
27ATP7A,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
28MNK, 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
29ATP7A, 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
30ATP7A, 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
31ATP7A
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
32ATP7A, 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
33ATP7A
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
34ATP7A, 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
35ATP7A
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
36ATP7A, 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
37ATP7A, MNK
A Golgi localization signal identified in the Menkes recombinant protein.
Francis MJ, et al.
Hum Mol Genet 7 : 1245-1252. 1998
38ATP7A
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
39ATP7A, MNK
Identification of point mutations in 41 unrelated patients affected with Menkes disease.
TŸmer Z, et al.
Am J Hum Genet 60 : 63-71. 1997
40ATP7A, 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
41ATP7A, 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
42ATP7A, MNK
A murine model of Menkes disease reveals a physiological function of metallothionein.
Kelly EJ, et al.
Nat Genet 13 : 219-222. 1996
43ATP7A, 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
44ATP7A, 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
45MNK, 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
46OHS, 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
47MNK, ATP7A
Characterization of the exon structure of the Menkes disease gene using vectorette PCR.
TŸmer Z, et al.
Genomics 26 : 437-442. 1995
48ATP7A
Two highly polymorphic CA repeats in the Menkes gene (ATP7A).
Begy CR, et al.
Hum Genet 96 : 355-356. 1995
49ATP7A, 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
50ATP7A, 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
51ATP7A, 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