714 related articles for article (PubMed ID: 22089129)
1. 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]
2. 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]
3. Correction of a mouse model of Menkes disease by the human Menkes gene.
Llanos RM; Ke BX; Wright M; Deal Y; Monty F; Kramer DR; Mercer JF
Biochim Biophys Acta; 2006 Apr; 1762(4):485-93. PubMed ID: 16488577
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants.
La Fontaine S; Firth SD; Lockhart PJ; Brooks H; Camakaris J; Mercer JF
Hum Mol Genet; 1999 Jun; 8(6):1069-75. PubMed ID: 10332039
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.
Kim BE; Petris MJ
J Med Genet; 2007 Oct; 44(10):641-6. PubMed ID: 17483305
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. Menkes disease.
Bertini I; Rosato A
Cell Mol Life Sci; 2008 Jan; 65(1):89-91. PubMed ID: 17989919
[TBL] [Abstract][Full Text] [Related]
11. Haemolysis and perturbations in the systemic iron metabolism of suckling, copper-deficient mosaic mutant mice - an animal model of Menkes disease.
Lenartowicz M; Starzyński RR; Krzeptowski W; Grzmil P; Bednarz A; Ogórek M; Pierzchała O; Staroń R; Gajowiak A; Lipiński P
PLoS One; 2014; 9(9):e107641. PubMed ID: 25247420
[TBL] [Abstract][Full Text] [Related]
12. Alternative splicing in the Atp7a gene in the Cu deficient mosaic mutation in mice.
Lenartowicz M; Grzmil P; Rusin M; Styrna J
Folia Biol (Krakow); 2004; 52(3-4):219-23. PubMed ID: 19058563
[TBL] [Abstract][Full Text] [Related]
13. Evidence that translation reinitiation leads to a partially functional Menkes protein containing two copper-binding sites.
Paulsen M; Lund C; Akram Z; Winther JR; Horn N; Møller LB
Am J Hum Genet; 2006 Aug; 79(2):214-29. PubMed ID: 16826513
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A. A new protein implicated in copper homeostasis.
Stephenson SE; Dubach D; Lim CM; Mercer JF; La Fontaine S
J Biol Chem; 2005 Sep; 280(39):33270-9. PubMed ID: 16051599
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. 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]
18. 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]
19. Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Kennerson ML; Nicholson GA; Kaler SG; Kowalski B; Mercer JF; Tang J; Llanos RM; Chu S; Takata RI; Speck-Martins CE; Baets J; Almeida-Souza L; Fischer D; Timmerman V; Taylor PE; Scherer SS; Ferguson TA; Bird TD; De Jonghe P; Feely SM; Shy ME; Garbern JY
Am J Hum Genet; 2010 Mar; 86(3):343-52. PubMed ID: 20170900
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]