180 related articles for article (PubMed ID: 15981243)
41. Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family.
Borm B; Møller LB; Hausser I; Emeis M; Baerlocher K; Horn N; Rossi R
J Pediatr; 2004 Jul; 145(1):119-21. PubMed ID: 15238919
[TBL] [Abstract][Full Text] [Related]
42. Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
Yasmeen S; Lund K; De Paepe A; De Bie S; Heiberg A; Silva J; Martins M; Skjørringe T; Møller LB
Eur J Hum Genet; 2014 Apr; 22(4):517-21. PubMed ID: 24002164
[TBL] [Abstract][Full Text] [Related]
43. In silico modeling of the Menkes copper-translocating P-type ATPase 3rd metal binding domain predicts that phosphorylation regulates copper-binding.
Veldhuis NA; Kuiper MJ; Dobson RC; Pearson RB; Camakaris J
Biometals; 2011 Jun; 24(3):477-87. PubMed ID: 21258844
[TBL] [Abstract][Full Text] [Related]
44. Structural models of the human copper P-type ATPases ATP7A and ATP7B.
Gourdon P; Sitsel O; Lykkegaard Karlsen J; Birk Møller L; Nissen P
Biol Chem; 2012 Apr; 393(4):205-16. PubMed ID: 23029640
[TBL] [Abstract][Full Text] [Related]
45. Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population.
Ogawa A; Yamamoto S; Kanazawa M; Ogawa E; Takayanagi M; Hasegawa S; Kohno Y
J Hum Genet; 2000; 45(5):315-7. PubMed ID: 11043517
[TBL] [Abstract][Full Text] [Related]
46. The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.
Cecchi C; Biasotto M; Tosi M; Avner P
Hum Mol Genet; 1997 Mar; 6(3):425-33. PubMed ID: 9147646
[TBL] [Abstract][Full Text] [Related]
47. 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]
48. 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]
49. The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria.
Bhattacharjee A; Yang H; Duffy M; Robinson E; Conrad-Antoville A; Lu YW; Capps T; Braiterman L; Wolfgang M; Murphy MP; Yi L; Kaler SG; Lutsenko S; Ralle M
J Biol Chem; 2016 Aug; 291(32):16644-58. PubMed ID: 27226607
[TBL] [Abstract][Full Text] [Related]
50. Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model.
Ohta Y; Shiraishi N; Nishikimi M
Biochem Mol Biol Int; 1997 Nov; 43(4):913-8. PubMed ID: 9385451
[TBL] [Abstract][Full Text] [Related]
51. Conservation of copper-transporting P(IB)-type ATPase function.
Southon A; Palstra N; Veldhuis N; Gaeth A; Robin C; Burke R; Camakaris J
Biometals; 2010 Aug; 23(4):681-94. PubMed ID: 20372979
[TBL] [Abstract][Full Text] [Related]
52. Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model.
Haddad MR; Patel KD; Sullivan PH; Goldstein DS; Murphy KM; Centeno JA; Kaler SG
Mol Genet Metab; 2014 Dec; 113(4):294-300. PubMed ID: 25456742
[TBL] [Abstract][Full Text] [Related]
53. Differences in ATP7A gene expression underlie intrafamilial variability in Menkes disease/occipital horn syndrome.
Donsante A; Tang J; Godwin SC; Holmes CS; Goldstein DS; Bassuk A; Kaler SG
J Med Genet; 2007 Aug; 44(8):492-7. PubMed ID: 17496194
[TBL] [Abstract][Full Text] [Related]
54. Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.
Mogensen M; Skjørringe T; Kodama H; Silver K; Horn N; Møller LB
Orphanet J Rare Dis; 2011 Nov; 6():73. PubMed ID: 22074552
[TBL] [Abstract][Full Text] [Related]
55. Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
Desai V; Donsante A; Swoboda KJ; Martensen M; Thompson J; Kaler SG
Clin Genet; 2011 Feb; 79(2):176-82. PubMed ID: 20497190
[TBL] [Abstract][Full Text] [Related]
56. A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation.
Kim BE; Smith K; Meagher CK; Petris MJ
J Biol Chem; 2002 Nov; 277(46):44079-84. PubMed ID: 12221109
[TBL] [Abstract][Full Text] [Related]
57. 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]
58. Two highly polymorphic CA repeats in the Menkes gene (ATP7A).
Begy CR; Dierick HA; Innis JW; Glover TW
Hum Genet; 1995 Sep; 96(3):355-6. PubMed ID: 7649557
[TBL] [Abstract][Full Text] [Related]
59. X-linked recessive Menkes disease: identification of partial gene deletions in affected males.
Poulsen L; Horn N; Heilstrup H; Lund C; Tümer Z; Møller LB
Clin Genet; 2002 Dec; 62(6):449-57. PubMed ID: 12485192
[TBL] [Abstract][Full Text] [Related]
60. [Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk].
Wang Q; Ding Y; Wang JM; Huang QH; Zhao CF; Liu YP; Li XY; Wu TF; Song JQ; Wang YJ; Yang YL
Zhongguo Dang Dai Er Ke Za Zhi; 2014 Jun; 16(6):624-8. PubMed ID: 24927440
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]