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Items: 1 to 20 of 185

1.

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 12;86(3):343-52. doi: 10.1016/j.ajhg.2010.01.027. Epub 2010 Feb 18.

2.

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;1314:49-54. doi: 10.1111/nyas.12427. Epub 2014 Apr 22.

3.

Small amounts of functional ATP7A protein permit mild phenotype.

Møller LB.

J Trace Elem Med Biol. 2015;31:173-7. doi: 10.1016/j.jtemb.2014.07.022. Epub 2014 Aug 8. Review.

PMID:
25172213
4.

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 15;21(8):1794-807. doi: 10.1093/hmg/ddr612. Epub 2011 Dec 30.

5.

X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.

Hodgkinson VL, Dale JM, Garcia ML, Weisman GA, Lee J, Gitlin JD, Petris MJ.

J Pathol. 2015 Jun;236(2):241-50. doi: 10.1002/path.4511. Epub 2015 Mar 3.

6.
7.

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.

Dagenais SL, Adam AN, Innis JW, Glover TW.

Am J Hum Genet. 2001 Aug;69(2):420-7. Epub 2001 Jun 26.

8.

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. doi: 10.1016/j.ymgme.2008.06.015. Epub 2008 Aug 26.

9.

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. Epub 2006 Jun 5.

10.

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. doi: 10.1039/c1mt00134e. Epub 2011 Nov 16.

PMID:
22089129
11.

ATP7A-related copper transport diseases-emerging concepts and future trends.

Kaler SG.

Nat Rev Neurol. 2011 Jan;7(1):15-29. doi: 10.1038/nrneurol.2010.180. Review.

12.

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. doi: 10.1242/dmm.020263.

13.

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.

PMID:
11936860
14.

Translational research investigations on ATP7A: an important human copper ATPase.

Kaler SG.

Ann N Y Acad Sci. 2014 May;1314:64-8. doi: 10.1111/nyas.12422. Epub 2014 Apr 15. Review.

15.

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. doi: 10.1038/ejhg.2013.191. Epub 2013 Sep 4.

16.

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. doi: 10.1111/j.1399-0004.2010.01451.x.

17.

Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A.

Møller LB, Bukrinsky JT, Mølgaard A, Paulsen M, Lund C, Tümer Z, Larsen S, Horn N.

Hum Mutat. 2005 Aug;26(2):84-93.

PMID:
15981243
18.

[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 13;151(41):2266-70. Review. Dutch.

PMID:
17987894
19.

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 15;309(10):C660-8. doi: 10.1152/ajpcell.00130.2015. Epub 2015 Aug 12.

20.

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. doi: 10.1002/humu.22266. Review.

PMID:
23281160

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