163 related articles for article (PubMed ID: 12872841)
1. Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
Fu X; Rinaldo P; Hahn SH; Kodama H; Packman S
J Inherit Metab Dis; 2003; 26(1):55-66. PubMed ID: 12872841
[TBL] [Abstract][Full Text] [Related]
2. Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.
Horváth R; Freisinger P; Rubio R; Merl T; Bax R; Mayr JA; Shawan ; Müller-Höcker J; Pongratz D; Moller LB; Horn N; Jaksch M
J Inherit Metab Dis; 2005; 28(4):479-92. PubMed ID: 15902551
[TBL] [Abstract][Full Text] [Related]
3. The SLC31 (Ctr) copper transporter family.
Petris MJ
Pflugers Arch; 2004 Feb; 447(5):752-5. PubMed ID: 12827356
[TBL] [Abstract][Full Text] [Related]
4. Biochemical characterization of the human copper transporter Ctr1.
Lee J; Peña MM; Nose Y; Thiele DJ
J Biol Chem; 2002 Feb; 277(6):4380-7. PubMed ID: 11734551
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.
Leary SC; Cobine PA; Kaufman BA; Guercin GH; Mattman A; Palaty J; Lockitch G; Winge DR; Rustin P; Horvath R; Shoubridge EA
Cell Metab; 2007 Jan; 5(1):9-20. PubMed ID: 17189203
[TBL] [Abstract][Full Text] [Related]
7. Essential role for mammalian copper transporter Ctr1 in copper homeostasis and embryonic development.
Lee J; Prohaska JR; Thiele DJ
Proc Natl Acad Sci U S A; 2001 Jun; 98(12):6842-7. PubMed ID: 11391005
[TBL] [Abstract][Full Text] [Related]
8. Mitochondrial copper in human genetic disorders.
Garza NM; Swaminathan AB; Maremanda KP; Zulkifli M; Gohil VM
Trends Endocrinol Metab; 2023 Jan; 34(1):21-33. PubMed ID: 36435678
[TBL] [Abstract][Full Text] [Related]
9. A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
Burlina AB; Dionisi-Vici C; Bennett MJ; Gibson KM; Servidei S; Bertini E; Hale DE; Schmidt-Sommerfeld E; Sabetta G; Zacchello F
J Pediatr; 1994 Jan; 124(1):79-86. PubMed ID: 8283379
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome.
Kodama H; Okabe I; Yanagisawa M; Kodama Y
J Inherit Metab Dis; 1989; 12(4):386-9. PubMed ID: 2560098
[TBL] [Abstract][Full Text] [Related]
12. Iron, copper, and zinc transport: inhibition of divalent metal transporter 1 (DMT1) and human copper transporter 1 (hCTR1) by shRNA.
Espinoza A; Le Blanc S; Olivares M; Pizarro F; Ruz M; Arredondo M
Biol Trace Elem Res; 2012 May; 146(2):281-6. PubMed ID: 22068728
[TBL] [Abstract][Full Text] [Related]
13. hCTR1: a human gene for copper uptake identified by complementation in yeast.
Zhou B; Gitschier J
Proc Natl Acad Sci U S A; 1997 Jul; 94(14):7481-6. PubMed ID: 9207117
[TBL] [Abstract][Full Text] [Related]
14. Copper transport systems are involved in multidrug resistance and drug transport.
Furukawa T; Komatsu M; Ikeda R; Tsujikawa K; Akiyama S
Curr Med Chem; 2008; 15(30):3268-78. PubMed ID: 19075668
[TBL] [Abstract][Full Text] [Related]
15. Copper-stimulated endocytosis and degradation of the human copper transporter, hCtr1.
Petris MJ; Smith K; Lee J; Thiele DJ
J Biol Chem; 2003 Mar; 278(11):9639-46. PubMed ID: 12501239
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Ethylmalonic encephalopathy-report of two cases.
Heberle LC; Al Tawari AA; Ramadan DG; Ibrahim JK
Brain Dev; 2006 Jun; 28(5):329-31. PubMed ID: 16376514
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Changes in copper concentrations affect the protein levels but not the mRNA levels of copper chaperones in human umbilical vein endothelial cells.
Dong D; Xu X; Yin W; Kang YJ
Metallomics; 2014 Mar; 6(3):554-9. PubMed ID: 24343031
[TBL] [Abstract][Full Text] [Related]
20. Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.
Leary SC; Kaufman BA; Pellecchia G; Guercin GH; Mattman A; Jaksch M; Shoubridge EA
Hum Mol Genet; 2004 Sep; 13(17):1839-48. PubMed ID: 15229189
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]