Citations for
1ATP7A, 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
2ATP7A, 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
3ATP7A, 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
4ATP7A, 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
5ATP7A, 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
6MNK, 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
7ATP7A, 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
8ATP7A, 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
9ATP7A, 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
10MNK
Clinical expression of Menkes disease in a girl with X;13 translocation.
Abusaad I, Mohammed SN, Ogilvie CM, Ritchie J, Pohl KR, Docherty Z.
Am J Med Genet 87(4):354-9 1999
11ATP7A, MNK
A Golgi localization signal identified in the Menkes recombinant protein.
Francis MJ, et al.
Hum Mol Genet 7 : 1245-1252. 1998
12ATP7A, MNK
Identification of point mutations in 41 unrelated patients affected with Menkes disease.
Tźmer Z, et al.
Am J Hum Genet 60 : 63-71. 1997
13ATP7A, 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
14ATP7A, MNK
A murine model of Menkes disease reveals a physiological function of metallothionein.
Kelly EJ, et al.
Nat Genet 13 : 219-222. 1996
15ATP7A, 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
16MNK, 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
17OHS, 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
18MNK, ATP7A
Characterization of the exon structure of the Menkes disease gene using vectorette PCR.
Tźmer Z, et al.
Genomics 26 : 437-442. 1995
19ATP7A, 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
20ATP7A, 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
21MNK
X;1 translocation in a female Menkes patient : characterization by fluorescence in situ hybridization.
Beck J, et al.
Clin Genet 46 : 295-298. 1994
22ATP7A, 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
23MNK
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.
Vulpe C, et al.
Nat Genet 3 : 7-13. 1993
24MNK
Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein.
Chelly J, et al.
Nat Genet 3 : 14-19. 1993
25MNK
Isolation of a partial candidate gene for Menkes disease by positional cloning.
Mercer JFB, et al.
Nat Genet 3 : 20-25. 1993
26MNK
Are X-linked cutis laxa and Menkes disease allelic?
Levinson B, et al.
Nat Genet 3 : 6. 1993
27MNK
Mapping of the Menkes locus to Xq13.3 distal to the X-inactivation center by an intrachromosomal insertion of the segment Xq13.3-q21.2.
Tźmer Z, et al.
Hum Genet 88 : 668-672. 1992
28MNK
Multipoint linkage analysis in Menkes disease.
Tšnnesen T, et al.
Am J Hum Genet 50 : 1012-1017. 1992
29MNK
Isolation and characterization of radiation-reduced hybrids containing portions of the proximal long arm of the human X chromosome : identification of hybrids containing the Menkes' disease locus.
Colman SD, et al.
Somat Cell Mol Genet 18 : 201-213. 1992
30MNK
Characterization of a 1.0 Mb YAC contig spanning two chromosome breakpoints related to Menkes disease.
Tźmer Z, et al.
Hum Mol Genet 1 : 483-489. 1992
31MNK
Cloning of a candidate gene for Menkes syndrome near the MNK translocation breakpoint.
Consalez GG, et al.
Am J Hum Genet 51 : A20. 1992
32MNK
Fine mapping and cloning of the breakpoint associated with Menkes syndrome in a female patient.
Consalez GG, et al.
Genomics 14 : 557-561. 1992
33MNK
Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.
Verga V, et al.
Am J Hum Genet 48 : 1133-1138. 1991
34MNK
Menkes disease. Multipoint linkage analysis.
Tšnnesen T, et al.
(HGM11) Cytogenet Cell Genet 58 : 2086. 1991
35MNK
Menkes syndrome in a girl with X-autosome translocation.
Kapur S, et al.
Am J Med Genet 26 : 503-510. 1987
36MNK
Linkage studies in Menkes' disease. The Xg blood group system andC-banding of the X chromosome.
Horn N, et al.
Ann Hum Genet 48 : 161-172. 1984