Copper-dependent trafficking of Wilson disease mutant ATP7B proteins

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Human Molecular Genetics, Vol. 9, Iss. 13, 2000-08 ,pp. : 1927-1935

Oxford University Press

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

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

Springer Publishing Company

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Effect of the toxic milk mutation ( tx ) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase

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Human Molecular Genetics, Vol. 10, Iss. 4, 2001-02 ,pp. : 361-370

Oxford University Press

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A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse

By Matsuda J.  

Human Molecular Genetics, Vol. 10, Iss. 11, 2001-05 ,pp. : 1191-1199

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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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