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Results: 1 to 20 of 175

Similar articles for PubMed (Select 22692182)

1.

A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.

Schushan M, Bhattacharjee A, Ben-Tal N, Lutsenko S.

Metallomics. 2012 Jul;4(7):669-78. doi: 10.1039/c2mt20025b. Epub 2012 Jun 13.

PMID:
22692182
2.

Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.

Hsi G, Cullen LM, Macintyre G, Chen MM, Glerum DM, Cox DW.

Hum Mutat. 2008 Apr;29(4):491-501. doi: 10.1002/humu.20674.

PMID:
18203200
3.
4.

Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.

Braiterman LT, Murthy A, Jayakanthan S, Nyasae L, Tzeng E, Gromadzka G, Woolf TB, Lutsenko S, Hubbard AL.

Proc Natl Acad Sci U S A. 2014 Apr 8;111(14):E1364-73. doi: 10.1073/pnas.1314161111. Epub 2014 Mar 24.

5.

Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.

de Bie P, van de Sluis B, Burstein E, van de Berghe PV, Muller P, Berger R, Gitlin JD, Wijmenga C, Klomp LW.

Gastroenterology. 2007 Oct;133(4):1316-26. Epub 2007 Jul 25.

6.
7.

The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B.

Tsivkovskii R, Efremov RG, Lutsenko S.

J Biol Chem. 2003 Apr 11;278(15):13302-8. Epub 2003 Jan 27.

8.

Structural and functional insights of Wilson disease copper-transporting ATPase.

Fatemi N, Sarkar B.

J Bioenerg Biomembr. 2002 Oct;34(5):339-49. Review.

PMID:
12539961
9.

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.

van den Berghe PV, Stapelbroek JM, Krieger E, de Bie P, van de Graaf SF, de Groot RE, van Beurden E, Spijker E, Houwen RH, Berger R, Klomp LW.

Hepatology. 2009 Dec;50(6):1783-95. doi: 10.1002/hep.23209.

PMID:
19937698
10.

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses.

Shah AB, Chernov I, Zhang HT, Ross BM, Das K, Lutsenko S, Parano E, Pavone L, Evgrafov O, Ivanova-Smolenskaya IA, Annerén G, Westermark K, Urrutia FH, Penchaszadeh GK, Sternlieb I, Scheinberg IH, Gilliam TC, Petrukhin K.

Am J Hum Genet. 1997 Aug;61(2):317-28.

12.

New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.

Davies LP, Macintyre G, Cox DW.

Genet Test. 2008 Mar;12(1):139-45. doi: 10.1089/gte.2007.0072.

PMID:
18373411
13.
15.

Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).

Seidel J, Caca K, Schwab SG, Berr F, Wildenauer DB, Mentzel HJ, Horn N, Kauf E.

Cell Mol Biol (Noisy-le-grand). 2001;47 Online Pub:OL149-57.

PMID:
11936861
16.

Six novel ATP7B mutations in Thai patients with Wilson disease.

Panichareon B, Taweechue K, Thongnoppakhun W, Aksornworanart M, Pithukpakorn M, Yenchitsomanus PT, Limwongse C, Limjindaporn T.

Eur J Med Genet. 2011 Mar-Apr;54(2):103-7. doi: 10.1016/j.ejmg.2010.10.008. Epub 2010 Oct 27.

PMID:
21034864
17.

Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases.

Yan S, Wu G.

Mol Divers. 2008 May;12(2):119-29. doi: 10.1007/s11030-008-9084-x. Epub 2008 Aug 8.

PMID:
18688737
18.

[Wilson disease: an update].

Seo JK.

Korean J Hepatol. 2006 Sep;12(3):333-63. Review. Korean.

19.
20.

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. Epub 2007 Aug 23. Review.

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