title: Wilson's disease: a comprehensive review of the molecular mechanisms.
abstract: Wilson's disease (WD), also known as hepatolenticular degeneration, is an autosomal recessive inherited disorder resulting from abnormal copper metabolism. Reduced copper excretion causes an excessive deposition of the copper in many organs such as the liver, central nervous system (CNS), cornea, kidney, joints, and cardiac muscle where the physiological functions of the affected organs are impaired. The underlying molecular mechanisms for WD have been extensively studied. It is now believed that a defect in P-type adenosine triphosphatase (ATP7B), the gene encoding the copper transporting P-type ATPase, is responsible for hepatic copper accumulation. Deposited copper in the liver produces toxic effects via modulating several molecular pathways. WD can be a lethal disease if left untreated. A better understanding of the molecular mechanisms causing the aberrant copper deposition and organ damage is the key to developing effective management approaches.
authors: Department of imaging, the Affiliated Zhongshan Hospital of Dalian University, 6 Jiefang Street, Zhongshan District, Dalian 116001, Liaoning, China. wufei0348@126.com.
authors: Fei
authors: F
authors: Wu
authors: Department of Internal Medicine, the Second Hospital of Dalian Medical University, 467 Zhongshan Road, Shahekou District, Dalian 116023, Liaoning, China. wangjing1224920@sina.com.
authors: Jing
authors: J
authors: Wang
authors: Department of Biobank, the Sixth People's Hospital of Dalian, 269 Luganghuibai Road, Ganjingzi District, Dalian 116031, Liaoning, China. dahaixiaowen@sina.com.
authors: Chunwen
authors: C
authors: Pu
authors: Storr Liver Centre, Westmead Millennium Institute for Medical Research, Faculty of Medicine, the University of Sydney at Westmead Hospital, Westmead, NSW 2145, Australia. liang.qiao@sydney.edu.au.
authors: Liang
authors: L
authors: Qiao
authors: Department of Internal Medicine, the Second Hospital of Dalian Medical University, 467 Zhongshan Road, Shahekou District, Dalian 116023, Liaoning, China. jchunmeng@yahoo.com.
authors: Chunmeng
authors: C
authors: Jiang
mesh_terms: D000251:Adenosine Triphosphatases / Q000378:metabolism; D000818:Animals; D027682:Cation Transport Proteins / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D006527:Hepatolenticular Degeneration / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D006801:Humans; D008954:Models, Biological
chemical_list: D027682:Cation Transport Proteins; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases