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43. An Ile/Val polymorphism at codon 1464 of the ATP7A gene. Ogawa A; Yamamoto S; Takayanagi M; Kogo T; Kanazawa M; Kohno Y J Hum Genet; 1999; 44(6):423-4. PubMed ID: 10570920 [TBL] [Abstract][Full Text] [Related]
45. [Menkes' disease and brain dysfunction]. Aoki T; Yamaguchi Y; Omura I; Watanabe A; Shimizu N No To Shinkei; 2001 May; 53(5):427-35. PubMed ID: 11424353 [No Abstract] [Full Text] [Related]
46. Solution structure and intermolecular interactions of the third metal-binding domain of ATP7A, the Menkes disease protein. Banci L; Bertini I; Cantini F; DellaMalva N; Herrmann T; Rosato A; Wüthrich K J Biol Chem; 2006 Sep; 281(39):29141-7. PubMed ID: 16873374 [TBL] [Abstract][Full Text] [Related]
47. Genetic disorders of membrane transport. IV. Wilson's disease and Menkes disease. Schaefer M; Gitlin JD Am J Physiol; 1999 Feb; 276(2):G311-4. PubMed ID: 9950803 [TBL] [Abstract][Full Text] [Related]
48. Characterisation of copper-binding to the second sub-domain of the Menkes protein ATPase (MNKr2). Harrison MD; Meier S; Dameron CT Biochim Biophys Acta; 1999 Feb; 1453(2):254-60. PubMed ID: 10036323 [TBL] [Abstract][Full Text] [Related]
49. Solution structure and backbone dynamics of the Cu(I) and apo forms of the second metal-binding domain of the Menkes protein ATP7A. Banci L; Bertini I; Del Conte R; D'Onofrio M; Rosato A Biochemistry; 2004 Mar; 43(12):3396-403. PubMed ID: 15035611 [TBL] [Abstract][Full Text] [Related]
50. Deletion of the promoter region in the Atp7a gene of the mottled dappled mouse. Levinson B; Packman S; Gitschier J Nat Genet; 1997 Jul; 16(3):224-5. PubMed ID: 9207785 [No Abstract] [Full Text] [Related]
51. Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease. Reed V; Boyd Y Hum Mol Genet; 1997 Mar; 6(3):417-23. PubMed ID: 9147645 [TBL] [Abstract][Full Text] [Related]
52. Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease. Ambrosini L; Mercer JF Hum Mol Genet; 1999 Aug; 8(8):1547-55. PubMed ID: 10401004 [TBL] [Abstract][Full Text] [Related]
53. Fibroblast silver loading for the diagnosis of Menkes disease. Verheijen FW; Beerens CE; Havelaar AC; Kleijer WJ; Mancini GM J Med Genet; 1998 Oct; 35(10):849-51. PubMed ID: 9783711 [TBL] [Abstract][Full Text] [Related]
54. Copper-binding properties of the N-terminus of the Menkes protein. Cobine P; Harrison MD; Dameron CT Adv Exp Med Biol; 1999; 448():153-64. PubMed ID: 10079823 [No Abstract] [Full Text] [Related]
56. Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease. Masson W; Hughes H; Papworth D; Boyd Y; Horn N J Med Genet; 1997 Sep; 34(9):729-32. PubMed ID: 9321757 [TBL] [Abstract][Full Text] [Related]
57. A comparison of the mutation spectra of Menkes disease and Wilson disease. Hsi G; Cox DW Hum Genet; 2004 Jan; 114(2):165-72. PubMed ID: 14579150 [TBL] [Abstract][Full Text] [Related]
58. Copper transport and its defect in Wilson disease: characterization of the copper-binding domain of Wilson disease ATPase. Sarkar B J Inorg Biochem; 2000 Apr; 79(1-4):187-91. PubMed ID: 10830865 [TBL] [Abstract][Full Text] [Related]
59. [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]
60. N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat. Lutsenko S; Petrukhin K; Cooper MJ; Gilliam CT; Kaplan JH J Biol Chem; 1997 Jul; 272(30):18939-44. PubMed ID: 9228074 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]