Drug targets in Menkes disease - prospective developments

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Expert opinion on therapeutic targets

• Publication date

  2001-10-01

• Fields of study

  Biology, Medicine, Chemistry

• Identifiers
  DOI 10.1517/14728222.5.5.625PMID 12540288
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Distribution of 64Cu in foetal and adult tissues in mice: influence of sodium diethyldithiocarbamate treatment.

  2009cited by this paper
• Complete recovery of cytochrome oxidase and superoxide dismutase activities in the brain of brindled mice receiving copper therapy.

  2008cited by this paper
• Metabolism of a disulfiram metabolite, S-methyl N,N-diethyldithiocarbamate, by flavin monooxygenase in human renal microsomes.

  2001cited by this paper
• The metallochaperone Atox1 plays a critical role in perinatal copper homeostasis

  2001cited by this paper
• Differentiation of disulfiram effects on central catecholamines and hepatic ethanol metabolism.

  2001cited by this paper
• ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.

  2001cited by this paper
• Structural basis for copper transfer by the metallochaperone for the Menkes/Wilson disease proteins

  2000cited by this paper
• Intracellular copper routing: the role of copper chaperones.

  2000cited by this paper
• Stoichiometry of complex formation between Copper(I) and the N-terminal domain of the Menkes protein.

  2000cited by this paper
• New insights into copper monooxygenases and peptide amidation: structure, mechanism and function

  2000cited by this paper
• Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.

  2000influential reference
• MRI findings in case of late onset disulfiram-induced neurotoxicity

  2000cited by this paper
• Treatment of Wilson and menkes diseases.

  1999influential reference
• Mutation spectrum of ATP7A, the gene defective in Menkes disease.

  1999cited by this paper
• Functional Analysis of the N-terminal CXXC Metal-binding Motifs in the Human Menkes Copper-transporting P-type ATPase Expressed in Cultured Mammalian Cells*

  1999cited by this paper
• Clinical manifestations and treatment of Menkes disease and its variants

  1999cited by this paper
• [Suicidal self poisoning with disulfiram in a 15-year old boy with resulting encephalopathy].

  1999cited by this paper
• Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.

  1999influential reference
• Molecular genetics and pathophysiology of Menkes disease

  1999cited by this paper
• Diagnosis and therapy of Menkes syndrome, a genetic form of copper deficiency.

  1998cited by this paper
• Biochemical and Molecular Roles of Nutrients Copper Efflux from Murine Microvascular Cells Requires Expression of the Menkes Disease Cu-ATPase

  1998cited by this paper
• Mottled gene expression and copper distribution in the macular mouse, an animal model for Menkes disease

  1998cited by this paper
• Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.

  1998cited by this paper
• Copper, lysyl oxidase, and extracellular matrix protein cross-linking.

  1998cited by this paper
• A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network.

  1998cited by this paper
• Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome.

  1998influential reference
• Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease.

  1998cited by this paper
• Inhibitory effects of seven organosulphur compounds on clinical isolates of Candida species in vitro.

  1997cited by this paper
• Abnormalities of copper accumulation in cell lines established from nine different alleles of mottled are the same as those found in Menkes disease.

  1997cited by this paper
• Mutation Analysis and Expression of the Mottled Gene in the Macular Mouse Model of Menkes Disease

  1997cited by this paper
• A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family.

  1997influential reference
• Copper transport and its alterations in Menkes and Wilson diseases.

  1997cited by this paper
• Early copper histidine therapy in classic Menkes disease.

  1997cited by this paper
• Early copper histidine therapy in classic menkes disease

  1997cited by this paper
• 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*

  1997cited by this paper
• Basal ganglia infarction in a child with disulfiram poisoning.

  1997cited by this paper
• Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease.

  1997cited by this paper
• Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease.

  1997cited by this paper
• Immunocytochemical Localization of the Menkes Copper Transport Protein (ATP7A) to the Trans-Golgi Network

  1997cited by this paper
• The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.

  1997cited by this paper
• The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.

  1997cited by this paper
• 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.

  1996cited by this paper
• Biochemical characterization and intracellular localization of the Menkes disease protein.

  1996cited by this paper
• Functional analysis of a genetic defect of copper transport (Menkes disease) in different cell lines.

  1996cited by this paper
• Early copper-histidine treatment for Menkes disease

  1996cited by this paper
• Expression of mRNAs for lysyl oxidase and type III procollagen in cultured fibroblasts from patients with the Menkes and occipital horn syndromes as determined by quantitative polymerase chain reaction.

  1996cited by this paper
• A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome.

  1996influential reference
• Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.

  1996cited by this paper
• Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.

  1996cited by this paper
• Genes of the copper pathway.

  1995cited by this paper
• Molecular structure of the Menkes disease gene (ATP7A).

  1995cited by this paper
• Early copper therapy in classic Menkes disease patients with a novel splicing mutation

  1995cited by this paper
• Copper transport and kinetics in cultured C6 rat glioma cells.

  1995cited by this paper
• Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.

  1995influential reference
• Genes of the copper pathway.

  1995cited by this paper
• Menkes disease.

  1994cited by this paper
• Occipital horn syndrome: report of a patient and review of the literature

  1994cited by this paper
• The mottled gene is the mouse homologue of the Menkes disease gene

  1994cited by this paper
• Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus

  1994influential reference
• Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice

  1994cited by this paper
• X;1 translocation in a female Menkes patient: characterization by fluorescence in situ hybridization

  1994cited by this paper
• A Dose‐Ranging Pharmacokinetics Study of Sodium Diethyldithiocarbamate in Normal Healthy Volunteers

  1994cited by this paper
• Histochemical localization of copper in the intestine and kidney of macular mice: light and electron microscopic study.

  1993cited by this paper
• Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

  1993cited by this paper
• Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein

  1993cited by this paper
• Expression and accumulation of lysyl oxidase, elastin, and type I procollagen in human Menkes and mottled mouse fibroblasts.

  1993cited by this paper
• Degradation and inactivation of antitumor drugs.

  1993cited by this paper
• Clinical and biochemical consequences of copper-histidine therapy in Menkes disease

  1993cited by this paper
• Copper-histidine therapy for Menkes disease.

  1993cited by this paper
• Isolation of a partial candidate gene for Menkes disease by positional cloning

  1993cited by this paper
• Recent developments in Menkes disease

  1993cited by this paper
• Correction of cerebrospinal fluid copper in Menkes kinky hair disease.

  1991cited by this paper
• Therapeutic properties of sodium diethyldithiocarbamate: its role as an inhibitor in the progression of AIDS.

  1991cited by this paper
• Genetic expression of Menkes disease in cultured astrocytes of the macular mouse

  1991cited by this paper
• Changes of copper level and cytochrome c oxidase activity in the macular mouse with age.

  1991cited by this paper
• Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK-1.

  1991cited by this paper
• Therapeutic properties of sodium diethyldithiocarbamate: its role as an inhibitor in the progression of AIDS.

  1991cited by this paper
• Dopamine‐β‐hydroxylase deficiency in humans

  1990cited by this paper
• Dopamine-beta-hydroxylase deficiency in humans.

  1990cited by this paper
• Effects of chelators on copper therapy of macular mouse, a model animal of Menkes' kinky disease.

  1990cited by this paper
• The ligand specificity for uptake of complexed copper-67 by brain hypothalamic tissue is a function of copper concentration and copper:ligand molar ratio.

  1990cited by this paper
• Uptake of 67copper complexed to 3H-histidine by brain hypothalamic slices: evidence that dissociation of the complex is not the only factor determining 67copper uptake.

  1990cited by this paper
• Inhibition of HIV progression by dithiocarb. German DTC Study Group.

  1990cited by this paper
• Further characterization of the process of in vitro uptake of radiolabeled copper by the rat brain.

  1990cited by this paper
• Brain tissue accumulates 67copper by two ligand-dependent saturable processes. A high affinity, low capacity and a low affinity, high capacity process.

  1988cited by this paper
• The mild form of Menkes disease: progress report on the original case.

  1988cited by this paper
• Catecholamine metabolism in kinky hair disease.

  1988cited by this paper
• Variability in clinical expression of Menkes syndrome

  1988cited by this paper
• Life‐span and Menkes kinky hair syndrome: report of a 13‐year course of this disease

  1988cited by this paper
• Menkes' disease: long-term treatment with copper and D-penicillamine

  1988cited by this paper
• Atypical Menkes steely hair disease.

  1988cited by this paper
• [A case of Menkes disease effectively treated with tocopherol acetate].

  1988cited by this paper
• Menkes syndrome in a girl with X-autosome translocation.

  1987cited by this paper
• Reversible, late‐onset disulfiram‐induced neuropathy and encephalopathy

  1985cited by this paper
• Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein.

  1985cited by this paper
• Alterations in copper and collagen metabolism in the Menkes syndrome and a new subtype of the Ehlers-Danlos syndrome.

  1983cited by this paper
• Congenital Copper Deficiency: Copper Therapy and Dopamine‐β‐Hydroxylase Activity in the Mottled (Brindled) Mouse

  1983cited by this paper
• Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) mice.

  1982cited by this paper
• Trace Element Studies in Three Patients and a Fetus with Menkes' Disease. Effect of Copper Therapy

  1981cited by this paper
• Tissue copper concentrations of patients with Menke's kinky hair disease.

  1981cited by this paper

• Decreased Expression of the Slc31a1 Gene and Cytoplasmic Relocalization of Membrane CTR1 Protein in Renal Epithelial Cells: A Potent Protective Mechanism against Copper Nephrotoxicity in a Mouse Model of Menkes Disease

  2022cites this paper
• The spectrum of neuroradiological features in Menkes disease: Widening of the cerebral venous sinuses

  2012cites this paper
• Inherited Copper Transport Disorders: Biochemical Mechanisms, Diagnosis, and Treatment

  2012cites this paper
• Developmental changes in the expression of the Atp7a gene in the liver of mice during the postnatal period.

  2010cites this paper
• Effects of Copper Supplementation on the Structure and Content of Elements in Kidneys of Mosaic Mutant Mice

  2010cites this paper
• A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment

  2010cites this paper
• A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment

  2010cites this paper
• Copper metabolism and inherited copper transport disorders: molecular mechanisms, screening, and treatment

  2009cites this paper
• Cellular multitasking: the dual role of human Cu-ATPases in cofactor delivery and intracellular copper balance.

  2008cites this paper
• A p.C217R mutation in fibulin-5 from cutis laxa patients is associated with incomplete extracellular matrix formation in a skin equivalent model.

  2008cites this paper
• Copper Metabolism and Copper Transport Disorders

  2007cites this paper
• Characterization of the Expression and Regulation of the Menkes Protein in an Adrenocorticotropic Tumor Cell Line and Rat Endocrine Tissues

  2006influential citation
• Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease

  2005cites this paper
• High Affinity Binding between Copper and Full-length Prion Protein Identified by Two Different Techniques*

  2005cites this paper
• A survey of Japanese patients with Menkes disease from 1990 to 2003: Incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis

  2005cites this paper