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4. ATP7A mutation with occipital horns and distal motor neuropathy: A continuum. Fradin M; Lavillaureix A; Jaillard S; Quelin C; Sauleau P; Minot MC; Menard D; Edan G; Ceballos I; Treguier C; Proisy M; Magdelaine C; Lia AS; Odent S; Pasquier L Eur J Med Genet; 2020 Dec; 63(12):104087. PubMed ID: 33137485 [TBL] [Abstract][Full Text] [Related]
5. Report of a novel ATP7A mutation causing distal motor neuropathy. Gualandi F; Sette E; Fortunato F; Bigoni S; De Grandis D; Scotton C; Selvatici R; Neri M; Incensi A; Liguori R; Storbeck M; Karakaya M; Simioni V; Squarzoni S; Timmerman V; Wirth B; Donadio V; Tugnoli V; Ferlini A Neuromuscul Disord; 2019 Oct; 29(10):776-785. PubMed ID: 31558336 [TBL] [Abstract][Full Text] [Related]
6. Small amounts of functional ATP7A protein permit mild phenotype. Møller LB J Trace Elem Med Biol; 2015; 31():173-7. PubMed ID: 25172213 [TBL] [Abstract][Full Text] [Related]
7. Autonomous requirements of the Menkes disease protein in the nervous system. Hodgkinson VL; Zhu S; Wang Y; Ladomersky E; Nickelson K; Weisman GA; Lee J; Gitlin JD; Petris MJ Am J Physiol Cell Physiol; 2015 Nov; 309(10):C660-8. PubMed ID: 26269458 [TBL] [Abstract][Full Text] [Related]
8. Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis. Wang Y; Zhu S; Weisman GA; Gitlin JD; Petris MJ PLoS One; 2012; 7(8):e43039. PubMed ID: 22900086 [TBL] [Abstract][Full Text] [Related]
9. Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs. Perez-Siles G; Cutrupi A; Ellis M; Kuriakose J; La Fontaine S; Mao D; Uesugi M; Takata RI; Speck-Martins CE; Nicholson G; Kennerson ML Dis Model Mech; 2020 Jan; 13(2):. PubMed ID: 31969342 [No Abstract] [Full Text] [Related]
10. Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking. Yi L; Kaler SG Hum Mol Genet; 2015 May; 24(9):2411-25. PubMed ID: 25574028 [TBL] [Abstract][Full Text] [Related]
11. [From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect]. Aldenhoven M; Klomp LW; van Hasselt PM; de Koning TJ; Visser G Ned Tijdschr Geneeskd; 2007 Oct; 151(41):2266-70. PubMed ID: 17987894 [TBL] [Abstract][Full Text] [Related]
12. ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A. Yi L; Kaler S Ann N Y Acad Sci; 2014 May; 1314(1):49-54. PubMed ID: 24754450 [TBL] [Abstract][Full Text] [Related]
13. 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; 2011 Jan; 79(1):23-34. PubMed ID: 21143467 [TBL] [Abstract][Full Text] [Related]
14. 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; 2012 Apr; 21(8):1794-807. PubMed ID: 22210628 [TBL] [Abstract][Full Text] [Related]
15. Mercer SW; Wang J; Burke R J Biol Chem; 2017 Mar; 292(10):4113-4122. PubMed ID: 28119449 [TBL] [Abstract][Full Text] [Related]
16. Alterations in the expression of the Atp7a gene in the early postnatal development of the mosaic mutant mice (Atp7a mo-ms) - An animal model for Menkes disease. Lenartowicz M; Starzyński R; Wieczerzak K; Krzeptowski W; Lipiński P; Styrna J Gene Expr Patterns; 2011; 11(1-2):41-7. PubMed ID: 20831904 [TBL] [Abstract][Full Text] [Related]
17. Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease. Lenartowicz M; Grzmil P; Shoukier M; Starzyński R; Marciniak M; Lipiński P Metallomics; 2012 Feb; 4(2):197-204. PubMed ID: 22089129 [TBL] [Abstract][Full Text] [Related]
18. Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein. Wang Y; Zhu S; Hodgkinson V; Prohaska JR; Weisman GA; Gitlin JD; Petris MJ Am J Physiol Gastrointest Liver Physiol; 2012 Dec; 303(11):G1236-44. PubMed ID: 23064757 [TBL] [Abstract][Full Text] [Related]
19. The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression. Vonk WI; de Bie P; Wichers CG; van den Berghe PV; van der Plaats R; Berger R; Wijmenga C; Klomp LW; van de Sluis B Cell Mol Life Sci; 2012 Jan; 69(1):149-63. PubMed ID: 21667063 [TBL] [Abstract][Full Text] [Related]
20. The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders. Fieten H; Gill Y; Martin AJ; Concilli M; Dirksen K; van Steenbeek FG; Spee B; van den Ingh TS; Martens EC; Festa P; Chesi G; van de Sluis B; Houwen RH; Watson AL; Aulchenko YS; Hodgkinson VL; Zhu S; Petris MJ; Polishchuk RS; Leegwater PA; Rothuizen J Dis Model Mech; 2016 Jan; 9(1):25-38. PubMed ID: 26747866 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]