Si mostrano 100 riferimenti a partire da 1 |
Per ulteriori informazioni selezionare i riferimenti di interesse.
The molecular basis of copper-transport diseases
TRENDS IN MOLECULAR MEDICINE
Copper and genomic stability in mammals
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
Identification of four novel mutations in classical menkes disease and successful prenatal DNA diagnosis
MOLECULAR GENETICS AND METABOLISM
Menkes disease after copper histidine replacement therapy: Case report
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
XAS applied to pharmaceuticals: drug administration and bioavailability
JOURNAL OF SYNCHROTRON RADIATION
Commentary: Landmark articles on copper in the field of human health
JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
Neuropathology of occipital horn syndrome
JOURNAL OF CHILD NEUROLOGY
Copper in disorders with neurological symptoms: Alzheimer's, Menkes, and Wilson diseases
BRAIN RESEARCH BULLETIN
FIC1 disease: A spectrum of intrahepatic cholestatic disorders
SEMINARS IN LIVER DISEASE
Pituitary adenylyl cyclase-activating peptides and alpha-amidation in olfactory neurogenesis and neuronal survival in vitro
JOURNAL OF NEUROSCIENCE
Intestinal metal ion absorption: an update
CURRENT OPINION IN GASTROENTEROLOGY
The Wilson's disease gene and phenotypic diversity
JOURNAL OF HEPATOLOGY
ATP7A gene mutations in 16 patients with Menkes disease and a patient withoccipital horn syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS
Function, structure, and mechanism of intracellular copper trafficking proteins
ANNUAL REVIEW OF BIOCHEMISTRY
Menkes' disease with a Dandy-Walker variant: case report
NEURORADIOLOGY
Mining copper transport genes
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
The copper transporter CTR1 provides an essential function in mammalian embryonic development
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Tumor suppressor protein p53 mRNA and subcellular localization are alteredby changes in cellular copper in human Hep G2 cells
JOURNAL OF NUTRITION
Independent evolution of heavy metal-associated domains in copper chaperones and copper-transporting ATPases
JOURNAL OF MOLECULAR EVOLUTION
Functional analysis of chimeric proteins of the Wilson Cu(I)-ATPase (ATP7B) and ZntA, a Pb(II)/Zn(II)/Cd(II)-ATPase from Escherichia coli
JOURNAL OF BIOLOGICAL CHEMISTRY
Characterization of the binding interface between the copper chaperone Atx1 and the first cytosolic domain of Ccc2 ATPase
JOURNAL OF BIOLOGICAL CHEMISTRY
Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase
JOURNAL OF BIOLOGICAL CHEMISTRY
The Lys(1010)-Lys(1325) fragment of the Wilson's disease protein binds nucleotides and interacts with the N-terminal domain of this protein in a copper-dependent manner
JOURNAL OF BIOLOGICAL CHEMISTRY
Solution structure of the yeast copper transporter domain Ccc2a in the apoand Cu(I)-loaded states
JOURNAL OF BIOLOGICAL CHEMISTRY
A possible regulatory role for the metal-binding domain of CadA, the Listeria monocytogenes Cd2+-ATPase
FEBS LETTERS
Interaction of the CopZ copper chaperone with the CopA copper ATPase of Enterococcus hirae assessed by surface plasmon resonance
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Escherichia coli CopA N-terminal Cys(X)(2)Cys motifs are not required for copper resistance or transport
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in Chinese patients with Wilson disease
ARCHIVES OF NEUROLOGY
Identification of a high frequency of mutation at exon 8 of the ATP7B genein a Chinese population with Wilson disease by fluorescent PCR
ARCHIVES OF NEUROLOGY
Copper delivery by metallochaperone proteins
ACCOUNTS OF CHEMICAL RESEARCH
Molecular analysis of Wilson disease in Taiwan: identification of one novel mutation and evidence of haplotype-mutation association
JOURNAL OF HUMAN GENETICS
Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population
JOURNAL OF HUMAN GENETICS
Delivering copper within plant cells
CURRENT OPINION IN PLANT BIOLOGY
Infantile spasms and Menkes disease
EPILEPTIC DISORDERS
Pili torti and sensorineural hearing loss. A follow-up of Bjornstad's original patients and a review of the literature
EUROPEAN JOURNAL OF DERMATOLOGY
Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations
GENETIC TESTING
Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins
NATURE STRUCTURAL BIOLOGY
A strong loss-of-function mutation in RAN1 results in constitutive activation of the ethylene response pathway as well as a rosette-lethal phenotype
PLANT CELL
Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples
EUROPEAN JOURNAL OF HUMAN GENETICS
Cloning and expression of a novel human HCUTA cDNA
CHINESE SCIENCE BULLETIN
Meeting report - Copper research at the top
BIOMETALS
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins
HUMAN MOLECULAR GENETICS
Characterization of the hCTR1 gene: Genomic organization, functional expression, and identification of a highly homologous processed gene
GENE
Isolation of a murine copper transporter gene, tissue specific expression and functional complementation of a yeast copper transport mutant
GENE
Changes of copper-transporting proteins and ceruloplasmin in the lentiformnuclei in primary adult-onset dystonia
ANNALS OF NEUROLOGY
Regulation of copper uptake and transport in intestinal cell monolayers byacute and chronic copper exposure
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
Wilson's disease
SEMINARS IN LIVER DISEASE
Defective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation
BIOCHEMICAL JOURNAL
Evidence for a Menkes-like protein with a nuclear targeting sequence
BIOCHEMICAL JOURNAL
Cellular copper transport and metabolism
ANNUAL REVIEW OF NUTRITION
Copper transport and its defect in Wilson disease: characterization of thecopper-binding domain of Wilson disease ATPase
JOURNAL OF INORGANIC BIOCHEMISTRY
Histochemical characterization of silver-induced metallothionein in rat kidney
JOURNAL OF INORGANIC BIOCHEMISTRY
Lead targets GRP78, a molecular chaperone, in C6 rat glioma cells
TOXICOLOGY AND APPLIED PHARMACOLOGY
Ethylene captures a metal! Metal ions are involved in ethylene perception and signal transduction
PLANT AND CELL PHYSIOLOGY
Biological regulation of copper and selective removal of copper: Therapy for Wilson disease and its molecular mechanism
YAKUGAKU ZASSHI-JOURNAL OF THE PHARMACEUTICAL SOCIETY OF JAPAN
The high copper tolerance of Candida albicans is mediated by a P-type ATPase
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
Prevention of mutant SOD1 motoneuron degeneration by copper chelators in vitro
JOURNAL OF NEUROBIOLOGY
Roles of the ccoGHIS gene products in the biogenesis of the cbb(3)-type cytochrome c oxidase
JOURNAL OF MOLECULAR BIOLOGY
The ATP hydrolytic activity of purified ZntA, a Pb(II)/Cd(II)/Zn(II)-translocating ATPase from Escherichia coli
JOURNAL OF BIOLOGICAL CHEMISTRY
Metallochaperones, an intracellular shuttle service for metal ions
JOURNAL OF BIOLOGICAL CHEMISTRY
Energetics of copper trafficking between the Atx1 metallochaperone and theintracellular copper transporter, Ccc2
JOURNAL OF BIOLOGICAL CHEMISTRY
Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion
GASTROENTEROLOGY
Copper-transporting P-type adenosine triphosphatase (ATP7B) is associated with cisplatin resistance
CANCER RESEARCH
Copper-induced conformational changes in the N-terminal domain of the Wilson disease copper-transporting ATPase
BIOCHEMISTRY
Copper does not alter the intracellular distribution of ATP7B, a copper-transporting ATPase
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Molecular cloning and characterization of a copper chaperone for copper/zinc superoxide dismutase from the rat
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
Fragile hair and seizures in a child
ARCHIVES OF DERMATOLOGY
Lysyl oxidase and P-ATPase-7A expression during embryonic development in the rat
ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
Elastic-fiber pathologies: Primary defects in assembly - and secondary disorders in transport and delivery
AMERICAN JOURNAL OF HUMAN GENETICS
An Ile/Val polymorphism at codon 1464 of the ATP7A gene
JOURNAL OF HUMAN GENETICS
Identification of three novel mutations in the MNK gene in three unrelatedJapanese patients with classical Menkes disease
JOURNAL OF HUMAN GENETICS
Clinical manifestations and treatment of Menkes disease and its variants
PEDIATRICS INTERNATIONAL
Molecular genetics and pathophysiology of Menkes disease
PEDIATRICS INTERNATIONAL
Intracellular localization of the Menkes and Wilson's disease proteins andtheir role in intracellular copper transport
PEDIATRICS INTERNATIONAL
Sodium arsenite enhances copper accumulation in human lung adenocarcinoma cells
TOXICOLOGICAL SCIENCES
Molecular characterization of Wilson disease in the Sardinian population -Evidence of a founder effect
HUMAN MUTATION
The role of copper in neurodegenerative disease
NEUROBIOLOGY OF DISEASE
Crystal structure of the Atx1 metallochaperone protein at 1.02 angstrom resolution
STRUCTURE WITH FOLDING & DESIGN
Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation
HUMAN MOLECULAR GENETICS
Occipital Horn syndrome in a 2-year-old boy
CLINICAL DYSMORPHOLOGY
Experimental cerebral aneurysms in the female heterozygous Blotchy mouse
INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY
Copper chaperones: function, structure and copper-binding properties
JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY
Molecular genetics of intracellular copper transport
JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
Haplotype and mutation analysis in Mediterranean patients with Wilson disease
JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
Menkes gene: A potential locus for copper metabolism
JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
How cells handle copper: A view from microbes
JOURNAL OF TRACE ELEMENTS IN EXPERIMENTAL MEDICINE
The copper chaperone Atox1 in canine copper toxicosis in Bedlington terriers
GENOMICS
Immunohistochemical determination of the Wilson Copper-transporting P-typeATPase in the brain tissues of the rat
NEUROSCIENCE LETTERS
A novel pineal night-specific ATPase encoded by the Wilson disease gene
JOURNAL OF NEUROSCIENCE
Genetic disorders of membrane transport - IV. Wilson's disease and Menkes disease
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY
Cooperative binding of copper(I) to the metal binding domains in Menkes disease protein
BIOCHIMICA ET BIOPHYSICA ACTA-PROTEIN STRUCTURE AND MOLECULAR ENZYMOLOGY
Accumulated experience with prenatal diagnosis of Menkes disease by neutron activation analysis of chorionic villi specimens
BIOLOGICAL TRACE ELEMENT RESEARCH
Metal binding and radical generation of proteins in human neurological diseases and aging
METAL IONS IN BIOLOGIAL SYSTEMS, VOL 36
Clinical expression of menkes disease in a girl with X;13 translocation
AMERICAN JOURNAL OF MEDICAL GENETICS
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affectingclinical outcome
AMERICAN JOURNAL OF MEDICAL GENETICS
Evidence for a new X-linked mental retardation gene in Xp21-Xp22: Clinicaland molecular data in one family
AMERICAN JOURNAL OF MEDICAL GENETICS
Responsive-to-antagonist1, a Menkes/Wilson disease-related copper transporter, is required for ethylene signaling in Arabidopsis
CELL
Genetic determinants of trace element metabolism
ANNALS OF CLINICAL AND LABORATORY SCIENCE
Effect of lead exposure and accumulation on copper homeostasis in culturedC6 rat glioma cells
TOXICOLOGY AND APPLIED PHARMACOLOGY
Clinical radiology genetics, and therapy of hereditary skeletal diseases. A historical overview on the occasion of the 100th birthday anniversary of Professor Erich Hassler
MONATSSCHRIFT KINDERHEILKUNDE