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

By Buiakova Olesia I.  

Human Molecular Genetics, Vol. 8, Iss. 9, 1999-09 ,pp. : 1665-1671

Oxford University Press

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Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing

By Ferenci Peter  

Human Genetics, Vol. 120, Iss. 2, 2006-09 ,pp. : 151-159

Springer Publishing Company

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

By Zhang Shiqiang   Chen Shen   Li Wen   Guo Xiangpeng   Zhao Ping   Xu Jianyong   Chen Yan   Pan Qiong   Liu Xiaorong   Zychlinski Daniela   Lu Hai   Tortorella Micky D.   Schambach Axel   Wang Yan   Pei Duanqing   Esteban Miguel A.  

Human Molecular Genetics, Vol. 20, Iss. 16, 2011-08 ,pp. : 3176-3187

Oxford University Press

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Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease

By Ambrosini Loreta   Mercer Julian F. B.   Danks D.M.   Procopis P.   Vulpe C.   Mercer J.F.B.   Chelly J.   Pederson P.L.   Odermatt A.   Camakaris J.   Petris M.J.   La Fontaine S.   Ackland M.L.   Goka T.J.   Camakaris J.   Dierick H.   Tümer Z.   Danks D.M.   Danks D.M.   Christodoulou J.   Shapiro M.B.   Yamaguchi Y.   Lutsenko S.   Ladinsky M.S.   Molloy S.S.   Kaler S.G.   Strausak D.   Payne A.S.   Qi M.   Petris M.J.   Kaler S.G.   Das S.   Tümer Z.   Paynter J.A.   Sambrook J.   Miller S.A.   Mercer J.F.B.   Bull P.C.   Theophilos M.B.   Wu J.   Sambongi Y.   Fu D.  

Human Molecular Genetics, Vol. 8, Iss. 8, 1999-08 ,pp. : 1547-1555

Oxford University Press

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Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death

By Ugolino Janet   Fang Shengyun   Kubisch Christian   Monteiro Mervyn J.  

Human Molecular Genetics, Vol. 20, Iss. 18, 2011-09 ,pp. : 3565-3577

Oxford University Press

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