(Q28204513)

12 December 2020

Identification of the Wilson's disease gene: clues for disease pathogenesis and the potential for molecular diagnosis

1 reference

12 December 2020

Identification of a di-leucine motif within the C terminus domain of the Menkes disease protein that mediates endocytosis from the plasma membrane

1 reference

12 December 2020

Restriction of copper export in Saccharomyces cerevisiae to a late Golgi or post-Golgi compartment in the secretory pathway

1 reference

12 December 2020

The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake

1 reference

12 December 2020

The zntA gene of Escherichia coli encodes a Zn(II)-translocating P-type ATPase

1 reference

12 December 2020

Undetectable intracellular free copper: the requirement of a copper chaperone for superoxide dismutase

1 reference

12 December 2020

Altered copper metabolism in cultured cells from human Menkes' syndrome and mottled mouse mutants

1 reference

12 December 2020

The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis

1 reference

12 December 2020

Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome

1 reference

12 December 2020

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease

1 reference

12 December 2020

A Golgi localization signal identified in the Menkes recombinant protein

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12 December 2020

Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization

1 reference

12 December 2020

The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal

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12 December 2020

Functional studies on the Wilson copper P-type ATPase and toxic milk mouse mutant

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12 December 2020

Intrahepatic transplantation of normal hepatocytes prevents Wilson's disease in Long-Evans cinnamon rats

1 reference

12 December 2020

The cadmium-resistant gene, CAD2, which is a mutated putative copper-transporter gene (PCA1), controls the intracellular cadmium-level in the yeast S. cerevisiae

1 reference

12 December 2020

Functional analysis of the N-terminal CXXC metal-binding motifs in the human Menkes copper-transporting P-type ATPase expressed in cultured mammalian cells

1 reference

12 December 2020

Functional properties of the copper-transporting ATPase ATP7B (the Wilson's disease protein) expressed in insect cells

1 reference

12 December 2020

Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

1 reference

12 December 2020

Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux

1 reference

12 December 2020

Copper biochemistry and molecular biology

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12 December 2020

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome

1 reference

12 December 2020

Sequence, mapping and disruption of CCC2, a gene that cross-complements the Ca(2+)-sensitive phenotype of csg1 mutants and encodes a P-type ATPase belonging to the Cu(2+)-ATPase subfamily.

1 reference

12 December 2020

Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p

1 reference

12 December 2020

CopA: An Escherichia coli Cu(I)-translocating P-type ATPase.

1 reference

12 December 2020

Formation of a phosphorylated enzyme intermediate by the cadA Cd(2+)-ATPase

1 reference

12 December 2020

Identification of point mutations in 41 unrelated patients affected with Menkes disease

1 reference

12 December 2020

Structure-function analysis of purified Enterococcus hirae CopB copper ATPase: effect of Menkes/Wilson disease mutation homologues

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12 December 2020

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12 December 2020

Cloning and characterization of the promoter region of the Wilson disease gene

1 reference

12 December 2020

Escherichia coli CopA N-terminal Cys(X)(2)Cys motifs are not required for copper resistance or transport.

1 reference

12 December 2020

Copper-dependent trafficking of Wilson disease mutant ATP7B proteins

1 reference

12 December 2020

N-terminal domains of human copper-transporting adenosine triphosphatases (the Wilson's and Menkes disease proteins) bind copper selectively in vivo and in vitro with stoichiometry of one copper per metal-binding repeat.

1 reference

12 December 2020

A putative P-type Cu(2+)-transporting ATPase gene on chromosome II of Saccharomyces cerevisiae.

1 reference

12 December 2020

ATP-dependent copper transport by the Menkes protein in membrane vesicles isolated from cultured Chinese hamster ovary cells

1 reference

12 December 2020

Nuclear proteins that bind to metal response element a (MREa) in the Wilson disease gene promoter are Ku autoantigens and the Ku-80 subunit is necessary for basal transcription of the WD gene

1 reference

12 December 2020

Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase

1 reference

12 December 2020

The role of GMXCXXC metal binding sites in the copper-induced redistribution of the Menkes protein

1 reference

12 December 2020

Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae.

1 reference

12 December 2020

Mutation spectrum of ATP7A, the gene defective in Menkes disease

1 reference

12 December 2020

Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase

1 reference

12 December 2020

Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency

1 reference

12 December 2020

Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking

1 reference

12 December 2020

Molecular mechanisms of copper homeostasis

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12 December 2020

A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network

1 reference

12 December 2020

Structure/function analysis of the amino-terminal region of the 1 and 2 subunits of Na,K-ATPase

1 reference

12 December 2020

Expression of the Menkes gene homologue in mouse tissues lack of effect of copper on the mRNA levels

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12 December 2020

Copper deficiency and cardiovascular disease: role of peroxidation, glycation, and nitration

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12 December 2020

Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.

1 reference

12 December 2020

Correction of liver disease following transplantation of normal rat hepatocytes into Long-Evans Cinnamon rats modeling Wilson's disease

1 reference

12 December 2020

Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease

1 reference

12 December 2020

The cysteine-rich amino-terminal domain of ZntA, a Pb(II)/Zn(II)/Cd(II)-translocating ATPase from Escherichia coli, is not essential for its function

1 reference

12 December 2020

Functional expression of the menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases

1 reference

12 December 2020

The Lys1010-Lys1325 fragment of the Wilson's disease protein binds nucleotides and interacts with the N-terminal domain of this protein in a copper-dependent manner

1 reference

12 December 2020

Calcium transport in human inside-out erythrocyte vesicles

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12 December 2020

Isolation of a partial candidate gene for Menkes disease by positional cloning

1 reference

12 December 2020