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42. Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes. de Bie P; Muller P; Wijmenga C; Klomp LW J Med Genet; 2007 Nov; 44(11):673-88. PubMed ID: 17717039 [TBL] [Abstract][Full Text] [Related]
43. Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome. Møller LB; Tümer Z; Lund C; Petersen C; Cole T; Hanusch R; Seidel J; Jensen LR; Horn N Am J Hum Genet; 2000 Apr; 66(4):1211-20. PubMed ID: 10739752 [TBL] [Abstract][Full Text] [Related]
44. Molecular correlates of epilepsy in early diagnosed and treated Menkes disease. Kaler SG; Liew CJ; Donsante A; Hicks JD; Sato S; Greenfield JC J Inherit Metab Dis; 2010 Oct; 33(5):583-9. PubMed ID: 20652413 [TBL] [Abstract][Full Text] [Related]
46. 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]
47. Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease. Voskoboinik I; Camakaris J J Bioenerg Biomembr; 2002 Oct; 34(5):363-71. PubMed ID: 12539963 [TBL] [Abstract][Full Text] [Related]
48. 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]
49. A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease. Kouza M; Gowtham S; Seel M; Hansmann UH Phys Chem Chem Phys; 2010 Oct; 12(37):11390-7. PubMed ID: 20714486 [TBL] [Abstract][Full Text] [Related]
53. Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX). Perez-Siles G; Grant A; Ellis M; Ly C; Kidambi A; Khalil M; Llanos RM; Fontaine SL; Strickland AV; Züchner S; Bermeo S; Neist E; Brennan-Speranza TC; Takata RI; Speck-Martins CE; Mercer JF; Nicholson GA; Kennerson ML Metallomics; 2016 Sep; 8(9):981-92. PubMed ID: 27293072 [TBL] [Abstract][Full Text] [Related]
54. 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]
55. A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease. Park HD; Moon HK; Lee J; Lee M; Lee SY; Kim JW; Ki CS Ann Clin Lab Sci; 2009; 39(2):188-91. PubMed ID: 19429807 [TBL] [Abstract][Full Text] [Related]
56. The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway. Cobbold C; Coventry J; Ponnambalam S; Monaco AP Hum Mol Genet; 2003 Jul; 12(13):1523-33. PubMed ID: 12812980 [TBL] [Abstract][Full Text] [Related]
57. Metabolic and molecular bases of Menkes disease and occipital horn syndrome. Kaler SG Pediatr Dev Pathol; 1998; 1(1):85-98. PubMed ID: 10463276 [TBL] [Abstract][Full Text] [Related]
58. Mutation spectrum of ATP7A, the gene defective in Menkes disease. Tümer Z; Møller LB; Horn N Adv Exp Med Biol; 1999; 448():83-95. PubMed ID: 10079817 [TBL] [Abstract][Full Text] [Related]
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