copper-transporting ATPases

07/01/2015 - "The Wilson disease gene, a copper transporting ATPase (Atp7b), is responsible for the sequestration of Cu into secretory vesicles, and this function is exhibited by the orthologous Ccc2p in the yeast. "
09/01/2014 - "ATP7B is one of two copper-transporting ATPases in humans, its vital role being manifested in Wilson disease due to a mutation in the gene that encodes this pump. "
07/01/2011 - "Wilson's disease (WD) is caused by mutations in the copper transporting ATPase 7B (Atp7b). "
02/01/2005 - "Wilson disease is caused by disease-specific mutations of the copper transporting ATPase, ATP7B. "
08/27/2004 - "The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F."

04/01/2015 - "Experimental studies in mutant mice in which the copper-transporting ATPase gene (Atp7b) is disrupted revealed a drastic, time-dependent accumulation of hepatic copper that is accompanied by formation of regenerative nodes resembling cirrhosis. "
08/01/2011 - "Nearly a century after Dr. Samuel Alexander Kinnier Wilson composed his doctoral thesis on the pathologic findings of "lenticular degeneration" in the brain associated with cirrhosis of the liver we know that the underlying molecular basis for this autosomal recessive inherited disorder that now bears his name is mutation of a copper transporting ATPase, ATP7B, an intracellular copper transporter mainly expressed in hepatocytes. "

08/01/2009 - "Menkes disease is an X-linked recessive disorder characterized by a copper-transporting ATPase defect. "
08/01/2009 - "Menkes disease is an X-linked recessive neurodevelopmental disorder resulting from mutation in a copper-transporting ATPase gene. "
02/01/2005 - "The gene for Menkes disease has been isolated and predicted to code for copper transporting ATPase. "
12/01/1994 - "Mutations that result in Wilson's and Menkes' diseases were shown to disrupt the function of two related P-type copper transporting ATPases. "
08/01/1994 - "The defective gene in Menkes disease has recently been isolated and the gene product is predicted to be a copper transporting ATPase. "

01/01/2014 - "Menkes disease (OMIM: 309400) is considered a rare, X-linked recessive neurodegenerative disorder resulting from a mutation in the gene coding for the copper transporting ATPase (ATP7A). "
01/01/2013 - "Classical Menkes disease is a neurodegenerative disorder caused by mutations in the copper-transporting ATPase ATP7A gene which, when untreated, is usually fatal in early childhood. "
11/01/2011 - "Menkes disease, an X linked recessive neurodegenerative disorder, results from a mutation in the gene coding for the copper transporting ATPase (ATP7A). "
04/01/2011 - "Menkes disease (MD) is an infantile-onset X-linked recessive neurodegenerative disorder caused by deficiency or dysfunction of a copper-transporting ATPase, ATP7A. "
02/01/1996 - "Classical Menkes disease is a fatal X-linked neurodegenerative disorder caused by defects in a gene (MNK) that encodes a copper-transporting ATPase. "

01/01/2009 - "Roles and mechanisms of copper transporting ATPases in cancer pathogenesis."
02/01/2003 - "Long-Evans Cinnamon (LEC) rats, an inbred mutant strain which accumulates copper due to an aberrant copper-transporting ATPase gene, develop acute hepatitis, chronic liver injury and liver tumors as a result of copper-induced oxidative stress, lipid peroxidation and DNA damage. "