Function and Regulation of Human Copper-Transporting ATPases

The Wilson disease gene is a putative copper transporting P–type ATPase similar to the Menkes gene

1993 • 1,905 citations

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

1993 • 1,395 citations

The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

1993 • 1,345 citations

C<scp>ERULOPLASMIN</scp> M<scp>ETABOLISM AND</scp> F<scp>UNCTION</scp>

2002 • 850 citations

The Role of Copper in Neurodegenerative Disease

1999 • 833 citations

Diagnosis and phenotypic classification of Wilson disease¹

2003 • 820 citations

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

1993 • 720 citations

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

1993 • 690 citations

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.

1996 • 623 citations

Biochemical Characterization of the Human Copper Transporter Ctr1

2002 • 575 citations

A novel di-leucine motif and a tyrosine-based motif independently mediate lysosomal targeting and endocytosis of CD3 chains

1992 • 540 citations

Flotillin-1 defines a clathrin-independent endocytic pathway in mammalian cells

2005 • 535 citations

Synapse Formation and Function Is Modulated by the Amyloid Precursor Protein

2006 • 521 citations

Isolation and Characterization of a Human Liver cDNA as a Candidate Gene for Wilson Disease

1993 • 501 citations

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

2000 • 497 citations

The role of ARF and Rab GTPases in membrane transport

1999 • 496 citations

Activation of superoxide dismutases: Putting the metal to the pedal

2006 • 494 citations

Copper in disorders with neurological symptoms: Alzheimer’s, Menkes, and Wilson diseases

2001 • 478 citations

New insights into copper monooxygenases and peptide amidation: structure, mechanism and function

2000 • 447 citations

Essential role for mammalian copper transporter Ctr1 in copper homeostasis and embryonic development

2001 • 435 citations

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

1995 • 431 citations

Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins.

2000 • 383 citations

The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene

1994 • 382 citations

The copper transporter CTR1 provides an essential function in mammalian embryonic development

2001 • 368 citations

Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

1994 • 355 citations

Identification of a new copper metabolism gene by positional cloning in a purebred dog population

2002 • 353 citations

Copper, lysyl oxidase, and extracellular matrix protein cross-linking

1998 • 337 citations

Copper-transporting P-type adenosine triphosphatase (ATP7B) is associated with cisplatin resistance.

2000 • 327 citations

Biochemical Characterization of the Wilson Disease Protein and Functional Expression in the Yeast Saccharomyces cerevisiae

1997 • 324 citations

Wilson disease

2003 • 317 citations

Increased Expression of the Copper Efflux Transporter ATP7A Mediates Resistance to Cisplatin, Carboplatin, and Oxaliplatin in Ovarian Cancer Cells

2004 • 316 citations

Cellular Copper Transport and Metabolism

2000 • 308 citations

Specific Copper Transfer from the Cox17 Metallochaperone to Both Sco1 and Cox11 in the Assembly of Yeast Cytochrome c Oxidase

2004 • 300 citations

Nerve endings from rat brain tissue release copper upon depolarization. A possible role in regulating neuronal excitability

1989 • 298 citations

Treatment of Wilson Disease With Ammonium Tetrathiomolybdate

2003 • 298 citations

Intracellular Copper Transport in Mammals

2004 • 288 citations

Ctr1 drives intestinal copper absorption and is essential for growth, iron metabolism, and neonatal cardiac function

2006 • 281 citations

NMDA Receptor Activation Mediates Copper Homeostasis in Hippocampal Neurons

2005 • 279 citations

Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis

1999 • 267 citations

Identification of Ion-Selectivity Determinants in Heavy-Metal Transport P 1B -type ATPases

2003 • 266 citations

Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion

2000 • 260 citations

Metallochaperones and Metal-Transporting ATPases: A Comparative Analysis of Sequences and Structures

2002 • 260 citations

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

1994 • 259 citations

DMT1, a physiologically relevant apical Cu¹⁺transporter of intestinal cells

2003 • 251 citations

Diagnosis of Wilson's disease: an experience over three decades

2000 • 245 citations

Protein kinase D regulates basolateral membrane protein exit from trans-Golgi network

2004 • 244 citations

Copper transport

1998 • 241 citations

Solution structure of the fourth metal-binding domain from the Menkes copper-transporting ATPase

1998 • 238 citations

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

1997 • 237 citations

Cargo Regulates Clathrin-Coated Pit Dynamics

2006 • 230 citations

Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation

1998 • 225 citations

Characterization of Mouse Embryonic Cells Deficient in the Ctr1 High Affinity Copper Transporter

2002 • 223 citations

The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis

2001 • 220 citations

A novel role for XIAP in copper homeostasis through regulation of MURR1

2003 • 216 citations

Sarcoplasmic reticulum: The dynamic calcium governor of muscle

2006 • 215 citations

The Menkes copper transporter is required for the activation of tyrosinase

2000 • 213 citations

The Atx1-Ccc2 complex is a metal-mediated protein-protein interaction

2006 • 213 citations

The ATP Hydrolytic Activity of Purified ZntA, a Pb(II)/Cd(II)/Zn(II)-translocating ATPase from Escherichia coli

2000 • 212 citations

Null Mutation of the Murine ATP7B (Wilson Disease) Gene Results in Intracellular Copper Accumulation and Late-Onset Hepatic Nodular Transformation

1999 • 195 citations

Ceruloplasmin gene expression in the murine central nervous system.

1996 • 193 citations

Copper Transport Protein (Ctr1) Levels in Mice Are Tissue Specific and Dependent on Copper Status

2006 • 193 citations

Hepatocyte-specific localization and copper-dependent trafficking of the Wilson’s disease protein in the liver

1999 • 190 citations

Mechanisms of copper incorporation during the biosynthesis of human ceruloplasmin.

1991 • 188 citations

The Copper Toxicosis Gene Product Murr1 Directly Interacts with the Wilson Disease Protein

2003 • 186 citations

Essential role for Atox1 in the copper-mediated intracellular trafficking of the Menkes ATPase

2003 • 183 citations

cdc42 regulates the exit of apical and basolateral proteins from the trans-Golgi network

2001 • 182 citations

The toxic milk mouse is a murine model of Wilson disease

1996 • 178 citations

XIAP Is a Copper Binding Protein Deregulated in Wilson's Disease and Other Copper Toxicosis Disorders

2006 • 175 citations

The Copper-transporting ATPases, Menkes and Wilson Disease Proteins, Have Distinct Roles in Adult and Developing Cerebellum

2005 • 173 citations

Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity

2006 • 169 citations

Characterization of the Interaction between the Wilson and Menkes Disease Proteins and the Cytoplasmic Copper Chaperone, HAH1p

1999 • 168 citations

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

1999 • 168 citations

The Role of GMXCXXC Metal Binding Sites in the Copper-induced Redistribution of the Menkes Protein

1999 • 167 citations

Copper-dependent trafficking of Wilson disease mutant ATP7B proteins

2000 • 167 citations

Restoration of Holoceruloplasmin Synthesis in LEC Rat after Infusion of Recombinant Adenovirus Bearing WND cDNA

1998 • 167 citations

Structure of human Wilson protein domains 5 and 6 and their interplay with domain 4 and the copper chaperone HAH1 in copper uptake

2006 • 167 citations

Molecular characterization of Wilson disease in the Sardinian population?Evidence of a founder effect

1999 • 165 citations

Copper Depletion Down-regulates Expression of the Alzheimer's Disease Amyloid-β Precursor Protein Gene

2004 • 165 citations

Role of the Copper-binding Domain in the Copper Transport Function of ATP7B, the P-type ATPase Defective in Wilson Disease

1999 • 163 citations

Metallochaperone Atox1 Transfers Copper to the NH2-terminal Domain of the Wilson's Disease Protein and Regulates Its Catalytic Activity

2002 • 161 citations

High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype–genotype analysis

2001 • 160 citations

Expression, Purification, and Metal Binding Properties of the N-terminal Domain from the Wilson Disease Putative Copper-transporting ATPase (ATP7B)

1997 • 160 citations

Functional Expression of the Menkes Disease Protein Reveals Common Biochemical Mechanisms Among the Copper-transporting P-type ATPases

1998 • 158 citations

Wilson disease: findings at MR imaging and CT of the brain with clinical correlation.

1996 • 157 citations

PDZ-mediated interactions retain the epithelial GABA transporter on the basolateral surface of polarized epithelial cells

1999 • 155 citations

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

2001 • 154 citations

Mechanisms of Copper Incorporation into Human Ceruloplasmin

2002 • 152 citations

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

1998 • 148 citations

HAH1 Is a Copper-binding Protein with Distinct Amino Acid Residues Mediating Copper Homeostasis and Antioxidant Defense

1998 • 147 citations

Clinical manifestations and treatment of Menkes disease and its variants

1999 • 141 citations

Copper‐transporting P‐type adenosine triphosphatase (ATP7B) as a cisplatin based chemoresistance marker in ovarian carcinoma: Comparative analysis with expression of MDR1, MRP1, MRP2, LRP and BCRP

2002 • 140 citations

Diagnosis and current therapy of Wilson's disease

2004 • 138 citations

The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis

2003 • 137 citations

Identification of differentially expressed genes in response to dietary iron deprivation in rat duodenum

2005 • 136 citations

Increase in expression of the copper transporter ATP7A during platinum drug-based treatment is associated with poor survival in ovarian cancer patients.

2003 • 134 citations

Copper-regulated Trafficking of the Menkes Disease Copper ATPase Is Associated with Formation of a Phosphorylated Catalytic Intermediate

2002 • 134 citations

Treatment of Wilson Disease With Ammonium Tetrathiomolybdate

1996 • 134 citations

A murine model of Menkes disease reveals a physiological function of metallothionein

1996 • 134 citations

NH₂-terminal signals in ATP7B Cu-ATPase mediate its Cu-dependent anterograde traffic in polarized hepatic cells

2005 • 133 citations

Dynamics of endogenous ATP7A (Menkes protein) in intestinal epithelial cells: copper-dependent redistribution between two intracellular sites

2006 • 133 citations

Solution Structure of the Apo and Copper(I)-Loaded Human Metallochaperone HAH1

2004 • 130 citations

Copper Transport and Metabolism Are Normal in Aceruloplasminemic Mice

2001 • 130 citations

Characterization of a Thermophilic P-type Ag+/Cu+-ATPase from the ExtremophileArchaeoglobus fulgidus

2002 • 129 citations

Functional Analysis of the N-terminal CXXC Metal-binding Motifs in the Human Menkes Copper-transporting P-type ATPase Expressed in Cultured Mammalian Cells

1999 • 127 citations

The Regulation of Catalytic Activity of the Menkes Copper-translocating P-type ATPase

2001 • 126 citations

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

1998 • 125 citations

Differential modulation by zinc and copper of amino acid receptors from rat olfactory bulb neurons

1996 • 125 citations

Human kidney diamine oxidase: heterologous expression, purification, and characterization

2002 • 125 citations

Cuprous oxidase activity of yeast Fet3p and human ceruloplasmin: implication for function

2003 • 123 citations

The Copper Export Pump ATP7B Modulates the Cellular Pharmacology of Carboplatin in Ovarian Carcinoma Cells

2003 • 121 citations

Immunocytochemical Localization of the Menkes Copper Transport Protein (ATP7A) to the Trans-Golgi Network

1997 • 120 citations

Chloride is an allosteric effector of copper assembly for the yeast multicopper oxidase Fet3p: An unexpected role for intracellular chloride channels

1998 • 119 citations

The N-terminal Metal-binding Site 2 of the Wilson's Disease Protein Plays a Key Role in the Transfer of Copper from Atox1

2004 • 118 citations

Cox17 Is Functional When Tethered to the Mitochondrial Inner Membrane

2004 • 116 citations

Solution structure of the N-domain of Wilson disease protein: Distinct nucleotide-binding environment and effects of disease mutations

2006 • 115 citations

Correction of the Copper Transport Defect of Menkes Patient Fibroblasts by Expression of the Menkes and Wilson ATPases

1998 • 114 citations

X-ray Absorption Spectroscopy of the Copper Chaperone HAH1 Reveals a Linear Two-coordinate Cu(I) Center Capable of Adduct Formation with Exogenous Thiols and Phosphines

2003 • 114 citations

The Distinct Roles of the N-terminal Copper-binding Sites in Regulation of Catalytic Activity of the Wilson's Disease Protein

2003 • 112 citations

A pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRX

1998 • 111 citations

Molecular genetics and pathophysiology of Menkes disease

1999 • 111 citations

Copper Specifically Regulates Intracellular Phosphorylation of the Wilson's Disease Protein, a Human Copper-transporting ATPase

2001 • 111 citations

Copper-Induced Conformational Changes in the N-Terminal Domain of the Wilson Disease Copper-Transporting ATPase

2000 • 109 citations

Signals regulating trafficking of Menkes (MNK; ATP7A) copper-translocating P-type ATPase in polarized MDCK cells

2004 • 108 citations

Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

1982 • 108 citations

Intracellular trafficking of the human Wilson protein: the role of the six N-terminal metal-binding sites

2004 • 107 citations

Copper Modulation of NMDA Responses in Mouse and Rat Cultured Hippocampal Neurons

1996 • 105 citations

Functional Properties of the Copper-transporting ATPase ATP7B (The Wilson's Disease Protein) Expressed in Insect Cells

2002 • 105 citations

Archaeoglobus fulgidus CopB Is a Thermophilic Cu2+-ATPase

2003 • 104 citations

Copper Exposure Induces Trafficking of the Menkes Protein in Intestinal Epithelium of ATP7A Transgenic Mice

2005 • 104 citations

Cranial MR findings in Wilson's disease

1997 • 101 citations

Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments

1997 • 100 citations

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

1998 • 100 citations

The SLC31 (Ctr) copper transporter family

2004 • 98 citations

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

2001 • 96 citations

Molecular Structure of the Menkes Disease Gene (ATP7A)

1995 • 95 citations

Binding of Copper(I) by the Wilson Disease Protein and Its Copper Chaperone

2004 • 95 citations

Menkes Protein Contributes to the Function of Peptidylglycine α-Amidating Monooxygenase

2002 • 94 citations

A Golgi localization signal identified in the Menkes recombinant protein

1998 • 94 citations

A Novel Pineal Night-Specific ATPase Encoded by the Wilson Disease Gene

1999 • 94 citations

Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters

1997 • 93 citations

Confocal Microscopic Analysis of the Interaction between Cisplatin and the Copper Transporter ATP7B in Human Ovarian Carcinoma Cells

2004 • 93 citations

Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease

1997 • 92 citations

Copper-induced trafficking of the cU-ATPases: a key mechanism for copper homeostasis.

2003 • 91 citations

Menkes Copper ATPase (Atp7a) Is a Novel Metal-responsive Gene in Rat Duodenum, and Immunoreactive Protein Is Present on Brush-border and Basolateral Membrane Domains

2005 • 90 citations

Characterization of the exon structure of the Menkes disease gene using vectorette PCR

1995 • 90 citations

Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1)

1998 • 89 citations

Mutation Analysis and Expression of the Mottled Gene in the Macular Mouse Model of Menkes Disease

1997 • 88 citations

The effects of copper ions on glutamate receptors in cultured rat cortical neurons

1996 • 88 citations

Essential role for the Menkes ATPase in activation of extracellular superoxide dismutase: implication for vascular oxidative stress

2005 • 87 citations

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

2001 • 86 citations

Copper metabolism in mottled mouse mutants: copper therapy of brindled (Mobr) mice

1979 • 86 citations

Transcuprein is a macroglobulin regulated by copper and iron availability

2007 • 85 citations

Tyrosinase Folding and Copper Loading in Vivo: A Crucial Role for Calnexin and α-Glucosidase II

1999 • 84 citations

Developmental changes in the expression of ATP7A during a critical period in postnatal neurodevelopment

2006 • 84 citations

Recent developments in Menkes disease

1993 • 84 citations

Molecular and Cellular Aspects of Copper Transport in Developing Mammals

2003 • 83 citations

Copper stimulates trafficking of a distinct pool of the Menkes copper ATPase (ATP7A) to the plasma membrane and diverts it into a rapid recycling pool

2004 • 82 citations

IV. Wilson’s disease and Menkes disease

1999 • 81 citations

Mutational Analysis of Copper Binding by Human Tyrosinase

1997 • 81 citations

Common mutations of ATP7B in Wilson disease patients from Hungary

2002 • 78 citations

Supplying Copper to the Cuproenzyme Peptidylglycine α-Amidating Monooxygenase

2003 • 78 citations

Characterization of the Menkes Protein Copper-Binding Domains and Their Role in Copper-Induced Protein Relocalization

1999 • 77 citations

Functional Studies on the Wilson Copper P-Type ATPase and Toxic Milk Mouse Mutant

2001 • 77 citations

Identification of the Transmembrane Metal Binding Site in Cu+-transporting PIB-type ATPases

2004 • 76 citations

Copper-dependent interaction of glutaredoxin with the N termini of the copper-ATPases (ATP7A and ATP7B) defective in Menkes and Wilson diseases

2006 • 76 citations

Treatment of Wilson's Disease

1987 • 76 citations

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

1998 • 75 citations

Defective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation

2000 • 73 citations

Ceruloplasmin and Copper Transport During the Latter Part of Gestation in the Rat

1993 • 73 citations

Glutamate-183 in the conserved TGES motif of domain A of sarcoplasmic reticulum Ca ²⁺ -ATPase assists in catalysis of E ₂ / E ₂ P partial reactions

2004 • 72 citations

Kinetic Analysis of the Interaction of the Copper Chaperone Atox1 with the Metal Binding Sites of the Menkes Protein

2003 • 72 citations

Copper Efflux from Murine Microvascular Cells Requires Expression of the Menkes Disease Cu-ATPase

1998 • 72 citations

Effects of Copper and Cross-Linking on the Extracellular Matrix of Tissue-Engineered Arteries

2005 • 70 citations

Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome [published erratum appears in Hum Mol Genet 1998 Jun;7(6):1059]

1998 • 70 citations

Evidence That Translation Reinitiation Leads to a Partially Functional Menkes Protein Containing Two Copper-Binding Sites

2006 • 69 citations

Role of ATP7B in biliary copper excretion in a human hepatoma cell line and normal rat hepatocytes

2000 • 69 citations

Copper-dependent Interaction of Dynactin Subunit p62 with the N Terminus of ATP7B but Not ATP7A

2006 • 69 citations

Solution Structure and Backbone Dynamics of the Cu(I) and Apo Forms of the Second Metal-Binding Domain of the Menkes Protein ATP7A

2004 • 68 citations

Defective Copper-Induced Trafficking and Localization of the Menkes Protein in Patients With Mild and Copper-Treated Classical Menkes Disease

1999 • 68 citations

Human ceruloplasmin. Tissue-specific expression of transcripts produced by alternative splicing.

1990 • 67 citations

Cranial MR in Wilson disease: abnormal white matter in extrapyramidal and pyramidal tracts.

1995 • 67 citations

Intracellular localization of the Menkes and Wilson's disease proteins and their role in intracellular copper transport

1999 • 66 citations

Pituitary Adenylyl Cyclase-Activating Peptides and α-Amidation in Olfactory Neurogenesis and Neuronal SurvivalIn Vitro

2001 • 65 citations

The Distinct Functional Properties of the Nucleotide-binding Domain of ATP7B, the Human Copper-transporting ATPase

2004 • 64 citations

Distinctive Menkes disease variant with occipital horns: Delineation of natural history and clinical phenotype

1996 • 63 citations

Hormonal regulation of the Menkes and Wilson copper-transporting ATPases in human placental Jeg-3 cells

2007 • 63 citations

A Docking Approach to the Study of Copper Trafficking Proteins

2004 • 62 citations

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

1994 • 62 citations

Diagnosis and Treatment of Wilson's Disease

1999 • 61 citations

Structure of the Actuator Domain from the Archaeoglobus fulgidus Cu⁺-ATPase^,

2006 • 60 citations

The Menkes Disease Protein Binds Copper via Novel 2-Coordinate Cu(I)−Cysteinates in the N-Terminal Domain

1998 • 59 citations

Copper‐replacement treatment for symptomatic Menkes disease: ethical considerations

2005 • 59 citations

Characterization of a Cytochrome b558 Ferric/Cupric Reductase from Rabbit Duodenal Brush Border Membranes

2002 • 59 citations

Escherichia coli CopA N-Terminal Cys(X)2Cys Motifs Are Not Required for Copper Resistance or Transport

2001 • 59 citations

Expression and Accumulation of Lysyl Oxidase, Elastin, and Type I Procollagen in Human Menkes and Mottled Mouse Fibroblasts

1993 • 59 citations

An NMR study of the interaction between the human copper(I) chaperone and the second and fifth metal‐binding domains of the Menkes protein

2005 • 59 citations

Expression of copper trafficking genes in the mouse brain

1998 • 58 citations

Menkes X‐linked disease: Prenatal diagnosis of hemizygous males and heterozygous females

1981 • 56 citations

Copper transport and its defect in Wilson disease: characterization of the copper-binding domain of Wilson disease ATPase

2000 • 55 citations

Copper binding to the N-terminal metal-binding sites or the CPC motif is not essential for copper-induced trafficking of the human Wilson protein (ATP7B)

2006 • 55 citations

Copper metabolism in mottled mouse mutants: distribution of 64Cu in brindled (Mobr) mice

1979 • 55 citations

Solution structures of the reduced and Cu(I) bound forms of the first metal binding sequence of ATP7A associated with Menkes disease

2005 • 54 citations

Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase

2002 • 54 citations

Effects of copper supplementation on copper absorption, tissue distribution, and copper transporter expression in an infant rat model

2004 • 54 citations

Downregulation of myelination, energy, and translational genes in Menkes disease brain

2005 • 53 citations

A Novel Frameshift Mutation in Exon 23 of ATP7A (MNK) Results in Occipital Horn Syndrome and Not in Menkes Disease

2001 • 53 citations

Wilson's Disease with Reversible Renal Tubular Dysfunction

1971 • 52 citations

A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome

1996 • 52 citations

The Developmentally Regulated Expression of Menkes Protein ATP7A Suggests a Role in Axon Extension and Synaptogenesis

2005 • 52 citations

Structural Basis for the Function of the N-terminal Domain of the ATPase CopA from Bacillus subtilis

2003 • 51 citations

Wilson disease

2004 • 51 citations

Copper transport to mammary gland and milk during lactation in rats

2002 • 50 citations

Chronological changes in tissue copper, zinc and iron in the toxic milk mouse and effects of copper loading

2006 • 50 citations

Stoichiometry of Complex Formation between Copper(I) and the N-Terminal Domain of the Menkes Protein

2000 • 50 citations

Localization of Menkes gene expression in the mouse brain; its association with neurological manifestations in Menkes model mice

1996 • 50 citations

The Two-Pore-Domain K+ Channels TREK-1 and TASK-3 Are Differentially Modulated by Copper and Zinc

2004 • 49 citations

Neurodegeneration in the animal model of Menkes’ disease involves Bcl-2-linked apoptosis

2001 • 49 citations

Incorporation of copper into lysyl oxidase

1997 • 47 citations

Mammary gland copper transport is stimulated by prolactin through alterations in Ctr1 and Atp7A localization

2006 • 47 citations

Copper disposition of the fetus and placenta in a patient with untreated Wilson's disease

1993 • 47 citations

Diffusion MR imaging changes associated with Wilson disease.

2003 • 47 citations

Iron and copper homeostasis and intestinal absorption using the Caco2 cell model.

2003 • 46 citations

Effects of copper and ceruloplasmin on iron transport in the Caco 2 cell intestinal model

2002 • 45 citations

Expression and Localization of Menkes and Wilson Copper Transporting ATPases in Human Placenta

2004 • 45 citations

Brachial artery aneurysms in Menkes disease

2006 • 45 citations

ATP-driven copper transport across the intestinal brush border membrane

2005 • 44 citations

Mutagenesis Reveals a Specific Role for Cox17p in Copper Transport to Cytochrome Oxidase

2003 • 44 citations

Peptidylglycine alpha-amidating monooxygenase (PAM) in Schwann cells and glia as well as neurons.

1990 • 43 citations

Conserved Aspartic Acid 714 in Transmembrane Segment 8 of the ZntA Subgroup of P_1B-Type ATPases Is a Metal-Binding Residue

2006 • 43 citations

Purification and membrane reconstitution of catalytically active Menkes copper-transporting P-type ATPase (MNK; ATP7A)

2006 • 43 citations

Lysyl Oxidase and P-ATPase-7A Expression during Embryonic Development in the Rat

2000 • 43 citations

Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: Unusual manifestations of Menkes disease

2005 • 43 citations

Molecular Diagnosis and Prophylactic Therapy for Presymptomatic Chinese Patients With Wilson Disease

2003 • 41 citations

The Menkes disease ATPase (ATP7A) is internalized via a Rac1-regulated, clathrin- and caveolae-independent pathway

2003 • 41 citations

Immunohistochemical determination of the Wilson Copper-transporting P-type ATPase in the brain tissues of the rat

1999 • 41 citations

Solution Structure and Intermolecular Interactions of the Third Metal-binding Domain of ATP7A, the Menkes Disease Protein

2006 • 41 citations

Copper transfer to the N-terminal domain of the Wilson disease protein (ATP7B): X-ray absorption spectroscopy of reconstituted and chaperone-loaded metal binding domains and their interaction with exogenous ligands

2004 • 41 citations

Cooperative binding of copper(I) to the metal binding domains in Menkes disease protein

1999 • 40 citations

Tissue-specific ceruloplasmin gene expression in the mammary gland

1991 • 40 citations

Expression in Mouse Kidney of Membrane Copper Transporters Atp7a and Atp7b

2002 • 40 citations

Understanding the mechanism and function of copper P-type ATPases

2002 • 39 citations

Wilson’s disease

2002 • 38 citations

An Atomic-level Investigation of the Disease-causing A629P Mutant of the Menkes Protein, ATP7A

2005 • 38 citations

Expression of Menkes disease gene in mammary carcinoma cells

1997 • 37 citations

Menkes disease: Underlying genetic defect and new diagnostic possibilities

1998 • 37 citations

The Involvement of Copper Transporter in Lead-induced Oxidative Stress in Astroglia

2005 • 36 citations

Menkes Disease: Recent Advances and New Insights into Copper Metabolism

1996 • 35 citations

A new strain of rat for functional analysis of PINA

2005 • 35 citations

Copper uptake and intracellular distribution in the human intestinal Caco-2 cell line.

2000 • 35 citations

Involvement of chloride channels in hepatic copper metabolism: ClC-4 promotes copper incorporation into ceruloplasmin☆

2004 • 34 citations

Structure and metal binding studies of the second copper binding domain of the Menkes ATPase

2003 • 34 citations

Protein kinase-dependent phosphorylation of the Menkes copper P-type ATPase

2003 • 34 citations

Expression of Menkes Copper-transporting ATPase, MNK, in the Lactating Human Breast: Possible Role in Copper Transport into Milk

1999 • 33 citations

A Menkes P-type ATPase involved in copper homeostasis in the central nervous system of the rat

1997 • 33 citations

A Single PDZ Domain Protein Interacts with the Menkes Copper ATPase, ATP7A

2005 • 33 citations

Biliary copper excretion capacity in intact animals: Correlation between ATP7B function, hepatic mass, and biliary copper excretion

2000 • 33 citations

Studies on endocytic mechanisms of the Menkes copper-translocating P-type ATPase (ATP7A; MNK). Endocytosis of the Menkes protein.

2003 • 32 citations

A mutation in the ATP7B copper transporter causes reduced dopamine beta-hydroxylase and norepinephrine in mouse adrenal.

2003 • 32 citations

Direct visualization of copper-metallothionein in LEC rat kidneys: application of autofluorescence signal of copper-thiolate cluster.

1996 • 31 citations

Copper Does Not Alter the Intracellular Distribution of ATP7B, a Copper-Transporting ATPase

2000 • 31 citations

Zinc Binding to the NH2-terminal Domain of the Wilson Disease Copper-transporting ATPase

2002 • 31 citations

Wilson disease protein ATP7B is localized in the late endosomes in a polarized human hepatocyte cell line

2003 • 27 citations

The Structural Basis for Coupling of Ca2+ Transport to ATP Hydrolysis by the Sarcoplasmic Reticulum Ca2+-ATPase

2005 • 27 citations

Genomic Organization of the Mottled Gene, the Mouse Homologue of the Human Menkes Disease Gene

1996 • 27 citations

Marginal Maternal Zn Intake in Rats Alters Mammary Gland Cu Transporter Levels and Milk Cu Concentration and Affects Neonatal Cu Metabolism

2003 • 27 citations

Recent advances in intestinal iron transport

2005 • 27 citations

Retinal Localization and Copper-Dependent Relocalization of the Wilson and Menkes Disease Proteins

2006 • 27 citations

Foreword

1999 • 26 citations

Endosomal trafficking of the Menkes copper ATPase ATP7A is mediated by vesicles containing the Rab7 and Rab5 GTPase proteins

2003 • 26 citations

Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease

1998 • 25 citations

Wilson disease

2002 • 25 citations

Neuronal and vascular disorders of the brain and spinal cord in Menkes kinky hair disease

1987 • 25 citations

A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse

1997 • 24 citations

Mutational analysis of the Menkes copper P-type ATPase (ATP7A)

2003 • 24 citations

[Therapy of Wilson disease].

1999 • 24 citations

Vesicular transport of Fe and interaction with other metal ions in polarized Caco2 Cell monolayers

2006 • 23 citations

Role of metal-binding domains of the copper pump from Archaeoglobus fulgidus

2006 • 22 citations

Abnormalities of Purkinje Cell Arborization in Brindled Mouse Cerebellum

1985 • 22 citations

Histochemical localization of copper in various organs of brindled mice after copper therapy

1995 • 22 citations

Cloning and Characterization of the Promoter Region of the Wilson Disease Gene

1999 • 22 citations

Coincident expression of Menkes gene with copper efflux in human placental cells

1996 • 21 citations

Correction of a mouse model of Menkes disease by the human Menkes gene

2006 • 21 citations

Molecular modelling of the nucleotide-binding domain of Wilson's disease protein: location of the ATP-binding site, domain dynamics and potential effects of the major disease mutations

2004 • 21 citations

Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B

2003 • 21 citations

The Cadmium Transport Sites of CadA, the Cd2+-ATPase from Listeria monocytogenes

2006 • 20 citations

Animal Models of Menkes Disease

1999 • 20 citations

Cloning, mapping and expression analysis of the sheep Wilson disease gene homologue

2000 • 19 citations

A novel deletion mutation within the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease

2000 • 19 citations

Defective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation

2000 • 19 citations

CT manifestation of cerebral white matter lesion in Wilson disease

1983 • 18 citations

Cultured astrocytes express mRNA for peptidylglycine-α-amidating monooxygenase, a neuropeptide processing enzyme

1992 • 18 citations

The Wilson's disease protein expressed in Sf9 cells is phosphorylated

2002 • 17 citations

Biliary Excretion of Copper, Metallothionein, and Glutathione into Long-Evans Cinnamon Rats: A Convincing Animal Model for Wilson Disease

1995 • 17 citations

Whole animal copper flux assessed by positron emission tomography in the Long – Evans cinnamon rat – a feasibility study

2005 • 17 citations

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

2002 • 17 citations

MR of the base of the pons in Wilson disease.

1992 • 16 citations

Oral zinc sulphate as primary therapeutic intervention in a child with Wilson disease

1989 • 15 citations

Analysis of the distribution of Cu, Fe and Zn and other elements in brindled mouse kidney using a scanning proton microprobe

1998 • 15 citations

Neuropathological study on cerebellum of macular mutant mouse heterozygote

1993 • 15 citations

Identification of the “missing domain” of the rat copper-transporting ATPase, atp7b: insight into the structural and metal binding characteristics of its N-terminal copper-binding domain

2003 • 15 citations

Golgi study on macular mutant mouse after copper therapy

1988 • 14 citations

Luminal Ca2+ Protects against Thapsigargin Inhibition in Neuronal Endoplasmic Reticulum

1998 • 14 citations

Kinetic Analysis of Metal Binding to the Amino-Terminal Domain of ZntA by Monitoring Metal−Thiolate Charge-Transfer Complexes

2005 • 14 citations

Correction of cerebrospinal fluid copper in Menkes Kinky Hair disease

1991 • 13 citations

Increased spectrin proteolysis in the brindled mouse brain

1990 • 13 citations

Purification and functional reconstitution of the human Wilson copper ATPase, ATP7B

2005 • 11 citations

Histochemical characterization of silver-induced metallothionein in rat kidney

2000 • 10 citations

Distribution of patients with Wilson disease carrying the H1069Q mutation in Austria.

2000 • 10 citations

Pretranslational control of Menkes disease gene expression.

2003 • 9 citations

Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase

2002 • 9 citations

Dynamic Mechanism for the Serpin Loop Insertion as Revealed by Quantitative Kinetics

2005 • 9 citations

Menkes' disease with a Dandy-Walker variant: case report

2001 • 9 citations

Expression of the Human Menkes ATPase in Xenopus laevis Oocytes

2001 • 8 citations

[Expression of ceruloplasmin gene in various organs of the rat].

1990 • 6 citations

Copper regulated synthesis, secretion and degradation of ceruloplasmin in a mouse immortalized hepatocytic cell line.

2005 • 6 citations

Results of treatment of Wilson's disease--own observations.

2003 • 5 citations