715 related articles for article (PubMed ID: 22089129)
21. Menkes disease.
Bertini I; Rosato A
Cell Mol Life Sci; 2008 Jan; 65(1):89-91. PubMed ID: 17989919
[TBL] [Abstract][Full Text] [Related]
22. 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; 2001 Aug; 69(2):420-7. PubMed ID: 11431706
[TBL] [Abstract][Full Text] [Related]
23. Expression in mouse kidney of membrane copper transporters Atp7a and Atp7b.
Moore SD; Cox DW
Nephron; 2002; 92(3):629-34. PubMed ID: 12372948
[TBL] [Abstract][Full Text] [Related]
24. Conservation of copper-transporting P(IB)-type ATPase function.
Southon A; Palstra N; Veldhuis N; Gaeth A; Robin C; Burke R; Camakaris J
Biometals; 2010 Aug; 23(4):681-94. PubMed ID: 20372979
[TBL] [Abstract][Full Text] [Related]
25. Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model.
Haddad MR; Patel KD; Sullivan PH; Goldstein DS; Murphy KM; Centeno JA; Kaler SG
Mol Genet Metab; 2014 Dec; 113(4):294-300. PubMed ID: 25456742
[TBL] [Abstract][Full Text] [Related]
26. A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.
Kim BE; Smith K; Petris MJ
J Med Genet; 2003 Apr; 40(4):290-5. PubMed ID: 12676902
[No Abstract] [Full Text] [Related]
27. Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis.
La Fontaine S; Mercer JF
Arch Biochem Biophys; 2007 Jul; 463(2):149-67. PubMed ID: 17531189
[TBL] [Abstract][Full Text] [Related]
28. The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.
León-García G; Santana A; Villegas-Sepúlveda N; Pérez-González C; Henrríquez-Esquíroz JM; de León-García C; Wong C; Baeza I
BMC Pediatr; 2012 Sep; 12():150. PubMed ID: 22992316
[TBL] [Abstract][Full Text] [Related]
29. [Structure and function of ATP7A and ATP7B proteins--Cu-transporting ATPases].
Lenartowicz M; Krzeptowski W
Postepy Biochem; 2010; 56(3):317-27. PubMed ID: 21117320
[TBL] [Abstract][Full Text] [Related]
30. 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; Levinson B; Gitschier J; Packman S
Pediatr Res; 1997 Oct; 42(4):436-42. PubMed ID: 9380433
[TBL] [Abstract][Full Text] [Related]
31. ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG
Nat Rev Neurol; 2011 Jan; 7(1):15-29. PubMed ID: 21221114
[TBL] [Abstract][Full Text] [Related]
32. 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 PM; Brinster LR; Sullivan P; Goldstein DS; Prohaska J; Centeno JA; Rushing E; Kaler SG
Mol Ther; 2011 Dec; 19(12):2114-23. PubMed ID: 21878905
[TBL] [Abstract][Full Text] [Related]
33. 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; 2008 Nov; 95(3):174-81. PubMed ID: 18752978
[TBL] [Abstract][Full Text] [Related]
34. Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease.
Mototani Y; Miyoshi I; Okamura T; Moriya T; Meng Y; Yuan Pei X; Kameo S; Kasai N
Genomics; 2006 Feb; 87(2):191-9. PubMed ID: 16338116
[TBL] [Abstract][Full Text] [Related]
35. A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
Møller LB; Rea G; Yasmeen S; Skjørringe T; Thorborg SS; Morrison PJ; Donnelly DE
Mol Genet Metab; 2013 Dec; 110(4):490-2. PubMed ID: 24100245
[TBL] [Abstract][Full Text] [Related]
36. A Golgi localization signal identified in the Menkes recombinant protein.
Francis MJ; Jones EE; Levy ER; Ponnambalam S; Chelly J; Monaco AP
Hum Mol Genet; 1998 Aug; 7(8):1245-52. PubMed ID: 9668166
[TBL] [Abstract][Full Text] [Related]
37. Impaired somatostatin accumulation within the median eminence in mice with mosaic mutation.
Wojewodzka U; Gajewska A; Gajkowska B; Styrna J; Kochman K
Neuro Endocrinol Lett; 2004; 25(1-2):78-82. PubMed ID: 15159688
[TBL] [Abstract][Full Text] [Related]
38. 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; 2011 Mar; 286(12):10073-83. PubMed ID: 21242307
[TBL] [Abstract][Full Text] [Related]
39. Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome.
Seidel J; Møller LB; Mentzel HJ; Kauf E; Vogt S; Patzer S; Wollina U; Zintl F; Horn N
Cell Mol Biol (Noisy-le-grand); 2001; 47 Online Pub():OL141-8. PubMed ID: 11936860
[TBL] [Abstract][Full Text] [Related]
40. [From gene to disease: copper-transporting P ATPases alteration].
Garcia Hejl C; Vrignaud C; Garcia C; Ceppa F
Pathol Biol (Paris); 2009 May; 57(3):272-9. PubMed ID: 19046832
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
