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Items: 1 to 20 of 219

1.

Early gestational gene transfer with targeted ATP7B expression in the liver improves phenotype in a murine model of Wilson's disease.

Roybal JL, Endo M, Radu A, Gray L, Todorow CA, Zoltick PW, Lutsenko S, Flake AW.

Gene Ther. 2012 Nov;19(11):1085-94. doi: 10.1038/gt.2011.186. Epub 2011 Dec 8.

PMID:
22158007
2.

Long-term metabolic correction of Wilson's disease in a murine model by gene therapy.

Murillo O, Luqui DM, Gazquez C, Martinez-Espartosa D, Navarro-Blasco I, Monreal JI, Guembe L, Moreno-Cermeño A, Corrales FJ, Prieto J, Hernandez-Alcoceba R, Gonzalez-Aseguinolaza G.

J Hepatol. 2016 Feb;64(2):419-426. doi: 10.1016/j.jhep.2015.09.014. Epub 2015 Sep 25.

PMID:
26409215
3.

Hepatocyte transplantation in the Long Evans Cinnamon rat model of Wilson's disease.

Park SM, Vo K, Lallier M, Cloutier AS, Brochu P, Alvarez F, Martin SR.

Cell Transplant. 2006;15(1):13-22.

PMID:
16700326
4.

Fragmentation of mitochondrial cardiolipin by copper ions in the Atp7b-/- mouse model of Wilson's disease.

Yurkova IL, Arnhold J, Fitzl G, Huster D.

Chem Phys Lipids. 2011 Jul;164(5):393-400. doi: 10.1016/j.chemphyslip.2011.05.006. Epub 2011 May 30.

PMID:
21645498
5.

[The onset of psychiatric disorders and Wilson's disease].

Benhamla T, Tirouche YD, Abaoub-Germain A, Theodore F.

Encephale. 2007 Dec;33(6):924-32. doi: 10.1016/j.encep.2006.08.009. Epub 2007 Sep 5. French.

PMID:
18789784
6.

Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice.

Merle U, Tuma S, Herrmann T, Muntean V, Volkmann M, Gehrke SG, Stremmel W.

J Gastroenterol Hepatol. 2010 Jun;25(6):1144-50. doi: 10.1111/j.1440-1746.2009.06173.x.

PMID:
20594231
7.

Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease.

Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A.

Clin Genet. 2005 Dec;68(6):524-32.

PMID:
16283883
8.

Chances and shortcomins of adenovirus-mediated ATP7B gene transfer in Wilson disease: proof of principle demonstrated in a pilot study with LEC rats.

Ha-Hao D, Merle U, Hofmann C, Wesch H, Doll J, Auburger G, Tuma S, Strauss M, Stremmel W.

Z Gastroenterol. 2002 Apr;40(4):209-16.

PMID:
11961729
9.

p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.

Gromadzka G, Schmidt HH, Genschel J, Bochow B, Rodo M, Tarnacka B, Litwin T, Chabik G, Członkowska A.

Mov Disord. 2006 Feb;21(2):245-8.

PMID:
16211609
10.

Copper metabolism after living donor liver transplantation for hepatic failure of Wilson's disease from a gene mutated donor.

Kobayashi S, Ochiai T, Hori S, Suzuki T, Shimizu T, Gunji Y, Shimada H, Yamamoto S, Ogawa A, Kohno Y, Sunaga M, Shimazu M, Tanaka K.

Hepatogastroenterology. 2001 Sep-Oct;48(41):1259-61.

PMID:
11677941
11.

ATP7B (WND) protein.

Terada K, Schilsky ML, Miura N, Sugiyama T.

Int J Biochem Cell Biol. 1998 Oct;30(10):1063-7. Review.

PMID:
9785470
12.

Structural and metabolic changes in Atp7b-/- mouse liver and potential for new interventions in Wilson's disease.

Huster D.

Ann N Y Acad Sci. 2014 May;1315:37-44. doi: 10.1111/nyas.12337. Epub 2014 Feb 12. Review.

PMID:
24697742
13.

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
14.

Modifying factors and phenotypic diversity in Wilson's disease.

Lutsenko S.

Ann N Y Acad Sci. 2014 May;1315:56-63. doi: 10.1111/nyas.12420. Epub 2014 Apr 4. Review.

15.

Genetics of Wilsons disease.

Behari M, Pardasani V.

Parkinsonism Relat Disord. 2010 Dec;16(10):639-44. doi: 10.1016/j.parkreldis.2010.07.007. Epub 2010 Aug 14.

PMID:
20708958
16.

Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.

Buiakova OI, Xu J, Lutsenko S, Zeitlin S, Das K, Das S, Ross BM, Mekios C, Scheinberg IH, Gilliam TC.

Hum Mol Genet. 1999 Sep;8(9):1665-71.

PMID:
10441329
17.

Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin.

Zhang S, Chen S, Li W, Guo X, Zhao P, Xu J, Chen Y, Pan Q, Liu X, Zychlinski D, Lu H, Tortorella MD, Schambach A, Wang Y, Pei D, Esteban MA.

Hum Mol Genet. 2011 Aug 15;20(16):3176-87. doi: 10.1093/hmg/ddr223. Epub 2011 May 18.

PMID:
21593220
18.

Atp7b-/- mice as a model for studies of Wilson's disease.

Lutsenko S.

Biochem Soc Trans. 2008 Dec;36(Pt 6):1233-8. doi: 10.1042/BST0361233. Review.

PMID:
19021531
19.

Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines.

Huster D, Hoppert M, Lutsenko S, Zinke J, Lehmann C, Mössner J, Berr F, Caca K.

Gastroenterology. 2003 Feb;124(2):335-45.

PMID:
12557139
20.

Intracellular distribution of the Wilson's disease gene product (ATPase7B) after in vitro and in vivo exogenous expression in hepatocytes from the LEC rat, an animal model of Wilson's disease.

Nagano K, Nakamura K, Urakami KI, Umeyama K, Uchiyama H, Koiwai K, Hattori S, Yamamoto T, Matsuda I, Endo F.

Hepatology. 1998 Mar;27(3):799-807.

PMID:
9500710

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