405 related articles for article (PubMed ID: 19888294)
1. Menkes disease.
Tümer Z; Møller LB
Eur J Hum Genet; 2010 May; 18(5):511-8. PubMed ID: 19888294
[TBL] [Abstract][Full Text] [Related]
2. An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.
Tümer Z
Hum Mutat; 2013 Mar; 34(3):417-29. PubMed ID: 23281160
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.
Tümer Z; Birk Møller L; Horn N
Hum Mutat; 2003 Dec; 22(6):457-64. PubMed ID: 14635105
[TBL] [Abstract][Full Text] [Related]
5. Neonatal erythroderma as a first manifestation of Menkes disease.
Galve J; Vicente A; González-Enseñat MA; Pérez-Dueñas B; Cusí V; Møller LB; Julià M; Domínguez A; Ferrando J
Pediatrics; 2012 Jul; 130(1):e239-42. PubMed ID: 22711717
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. 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]
8. 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]
9. [Structure and function of ATP7A and ATP7B proteins--Cu-transporting ATPases].
Lenartowicz M; Krzeptowski W
Postepy Biochem; 2010; 56(3):317-27. PubMed ID: 21117320
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Menkes disease.
Bertini I; Rosato A
Cell Mol Life Sci; 2008 Jan; 65(1):89-91. PubMed ID: 17989919
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. Clinical utility gene card for: Menkes disease.
Tümer Z; Klomp L
Eur J Hum Genet; 2011 Oct; 19(10):. PubMed ID: 21487442
[No Abstract] [Full Text] [Related]
16. 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]
17. Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.
Tang J; Donsante A; Desai V; Patronas N; Kaler SG
Mol Genet Metab; 2008 Nov; 95(3):174-81. PubMed ID: 18752978
[TBL] [Abstract][Full Text] [Related]
18. A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.
Lin YJ; Ho CS; Hsu CH; Lin JL; Chuang CK; Tsai JD; Chiu NC; Lin HY; Lin SP
Pediatr Neonatol; 2017 Feb; 58(1):89-92. PubMed ID: 25771438
[TBL] [Abstract][Full Text] [Related]
19. Molecular genetic mutation analysis in Menkes-disease with prenatal diagnosis.
László A; Endreffy E; Tümer Z; Horn N; Szabó J
Ideggyogy Sz; 2010 Jan; 63(1-2):48-51. PubMed ID: 20420124
[TBL] [Abstract][Full Text] [Related]
20. Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome.
Seidel J; Møller LB; Mentzel HJ; Kauf E; Vogt S; Patzer S; Wollina U; Zintl F; Horn N
Cell Mol Biol (Noisy-le-grand); 2001; 47 Online Pub():OL141-8. PubMed ID: 11936860
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]