| P50 | author | Lisbeth Birk Møller | Q55293524 |
| | Pawel Grzmil | Q97517997 |
| P2093 | author name string | Rafał Starzyński | |
| | Wojciech Krzeptowski | |
| | Paweł Lipiński | |
| | Małgorzata Lenartowicz | |
| | Olga Pierzchała | |
| P2860 | cites work | The Menkes copper transporter is required for the activation of tyrosinase | Q24290551 |
| | DMT1, a physiologically relevant apical Cu1+ transporter of intestinal cells | Q24301418 |
| | Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome | Q24310384 |
| | Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome | Q24539128 |
| | Aceruloplasminemia: molecular characterization of this disorder of iron metabolism | Q24564471 |
| | Neonatal diagnosis and treatment of Menkes disease | Q24626391 |
| | Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy | Q24632623 |
| | A primer for morpholino use in zebrafish. | Q24657663 |
| | Peptidylglycine alpha-amidating monooxygenase: a multifunctional protein with catalytic, processing, and routing domains | Q24675865 |
| | Regulation of brain iron and copper homeostasis by brain barrier systems: implication in neurodegenerative diseases | Q26827257 |
| | Copper signaling in the mammalian nervous system: synaptic effects | Q26849773 |
| | Prenatal treatment of mosaic mice (Atp7a mo-ms) mouse model for Menkes disease, with copper combined by dimethyldithiocarbamate (DMDTC) | Q27335017 |
| | Crystal structure of a copper-transporting PIB-type ATPase | Q27670612 |
| | Superoxide dismutase multigene family: a comparison of the CuZn-SOD (SOD1), Mn-SOD (SOD2), and EC-SOD (SOD3) gene structures, evolution, and expression | Q28215218 |
| | Threshold phenomena versus cell heredity in the manifestation of sex-linked genes in mammals | Q28252259 |
| | A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans | Q28287958 |
| | Hephaestin, a ceruloplasmin homologue implicated in intestinal iron transport, is defective in the sla mouse | Q28297185 |
| | ATP7A-related copper transport diseases-emerging concepts and future trends | Q28302938 |
| | Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis | Q28303981 |
| | Decreased hephaestin activity in the intestine of copper-deficient mice causes systemic iron deficiency | Q28307150 |
| | Zebrafish mutants calamity and catastrophe define critical pathways of gene-nutrient interactions in developmental copper metabolism | Q28473993 |
| | Phenotypic and genetic characterization of the Atp7a(Mo-Tohm) mottled mouse: a new murine model of Menkes disease | Q28507137 |
| | Copper metabolism in mottled mouse mutants. The effect of copper therapy on lysyl oxidase activity in brindled (Mobr) mice | Q42874518 |
| | Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein | Q43232414 |
| | A comparison of phenotype and copper distribution in blotchy and brindled mutant mice and in nutritionally copper deficient controls | Q43627980 |
| | Epiphyseal growth and osteoarthrosis in blotchy mice | Q43992089 |
| | Anticonvulsant and antiepileptogenic effects mediated by adeno-associated virus vector neuropeptide Y expression in the rat hippocampus. | Q44814719 |
| | Copper metabolism disorders affect testes structure and gamete quality in male mice | Q45423898 |
| | Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters | Q46047255 |
| | Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease | Q46910599 |
| | Ontogenic changes in lactoferrin receptor and DMT1 in mouse small intestine: implications for iron absorption during early life | Q46955866 |
| | A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment | Q47070499 |
| | Atp7a determines a hierarchy of copper metabolism essential for notochord development | Q47073635 |
| | Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. | Q47367419 |
| | Expression and localization of menkes and Wilson copper transporting ATPases in human placenta. | Q47626958 |
| | Intranasal delivery of a thyrotropin-releasing hormone analog attenuates seizures in the amygdala-kindled rat. | Q48096862 |
| | Copper metabolism in the macular mutant mouse: an animal model of Menkes's kinky-hair disease | Q48144847 |
| | Clinico-pathological study on macular mutant mouse | Q48233201 |
| | Spectrum of EEG findings in Menkes disease | Q48264247 |
| | Mitochondria-selective reduction of 62Cu-pyruvaldehyde bis(N4-methylthiosemicarbazone) (62Cu-PTSM) in the murine brain; a novel radiopharmaceutical for brain positron emission tomography (PET) imaging | Q48340650 |
| | Epilepsy in Menkes disease: an electroclinical long-term study of 28 patients. | Q48545381 |
| | Developmental changes in the expression of ATP7A during a critical period in postnatal neurodevelopment | Q48611784 |
| | Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease | Q48621638 |
| | A novel glycosylphosphatidylinositol-anchored form of ceruloplasmin is expressed by mammalian astrocytes | Q48638438 |
| | Congenital copper deficiency: copper therapy and dopamine-beta-hydroxylase activity in the mottled (brindled) mouse | Q48709204 |
| | The developmentally regulated expression of Menkes protein ATP7A suggests a role in axon extension and synaptogenesis | Q48791996 |
| | Effects of chelators on copper therapy of macular mouse, a model animal of Menkes' kinky disease | Q48920847 |
| | Markedly reduced activity of lysyl oxidase in skin and aorta from a patient with Menkes' disease showing unusually severe connective tissue manifestations. | Q48930152 |
| | Correction of a mouse model of Menkes disease by the human Menkes gene. | Q51818414 |
| | Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype. | Q52006892 |
| | Effects of oral copper administration to pregnant heterozygous brindled mice on fetal viability and copper levels. | Q52061682 |
| | Localization of Menkes gene expression in the mouse brain; its association with neurological manifestations in Menkes model mice. | Q52203793 |
| | Alternative splicing in the Atp7a gene in the Cu deficient mosaic mutation in mice. | Q52590679 |
| | Expression and localisation of the essential copper transporter DmATP7 in Drosophila neuronal and intestinal tissues. | Q52689144 |
| | Conservation of copper-transporting P(IB)-type ATPase function. | Q52704109 |
| | Functional significance of the copper transporter ATP7 in peptidergic neurons and endocrine cells in Drosophila melanogaster. | Q52743810 |
| | Somatic mosaicism in Menkes disease suggests choroid plexus‐mediated copper transport to the developing brain | Q55220574 |
| | 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 | Q57784045 |
| | Menkes' disease: long-term treatment with copper and D-penicillamine | Q67953198 |
| | Copper uptake and transfer to the mouse fetus during pregnancy | Q68199079 |
| | Changes in Tissue Growth, Concentrations of Copper, Iron, Cytochrome Oxidase and Superoxide Dismutase Subsequent to Dietary or Genetic Copper Deficiency in Mice | Q70165068 |
| | Early copper therapy in classic Menkes disease patients with a novel splicing mutation | Q70799318 |
| | Early copper-histidine treatment for Menkes disease | Q70803346 |
| | Cerebellar superoxide dismutase expression in Menkes' kinky hair disease: an immunohistochemical investigation | Q71548382 |
| | Genomic organization of the mottled gene, the mouse homologue of the human Menkes disease gene | Q71784245 |
| | Histochemical localization of copper in the intestine and kidney of macular mice: light and electron microscopic study | Q72620435 |
| | Pathological structure of the kidney from adult mice with mosaic mutation | Q73296028 |
| | Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease | Q73331948 |
| | The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene | Q73331952 |
| | A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse | Q73373497 |
| | Growth of the mouse coat. II. Effect of sex and pregnancy | Q73389506 |
| | Intragenic deletions at Atp7a in mouse models for Menkes disease | Q73957944 |
| | Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients | Q74343383 |
| | Alterations in kidney morphology in mice with mosaic mutation | Q74457920 |
| | Analysis of the distribution of Cu, Fe and Zn and other elements in brindled mouse kidney using a scanning proton microprobe | Q77617347 |
| | Intracellular localization of the Menkes and Wilson's disease proteins and their role in intracellular copper transport | Q78145844 |
| | Urological complications and copper replacement therapy in childhood Menkes syndrome | Q79791842 |
| | Brachial artery aneurysms in Menkes disease | Q80183542 |
| | Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A | Q81892365 |
| | Copper | Q83441566 |
| | Effects of copper supplementation on the structure and content of elements in kidneys of mosaic mutant mice | Q84729402 |
| | Menkes disease | Q84844727 |
| | Alterations in the expression of the Atp7a gene in the early postnatal development of the mosaic mutant mice (Atp7amo-ms) – An animal model for Menkes disease | Q85013328 |
| | A sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice | Q28509236 |
| | Primary defect in copper transport underlies mottled mutants in the mouse | Q28512192 |
| | Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease | Q28513437 |
| | Copper metabolism in mottled mouse mutants. Copper concentrations in tissues during development | Q28513454 |
| | Menkes protein contributes to the function of peptidylglycine alpha-amidating monooxygenase | Q28564470 |
| | Plasma peptidylglycine alpha-amidating monooxygenase (PAM) and ceruloplasmin are affected by age and copper status in rats and mice | Q28569967 |
| | Thyrotropin-releasing hormone (protirelin) inhibits potassium-stimulated glutamate and aspartate release from hippocampal slices in vitro | Q28570556 |
| | Silencing the Menkes copper-transporting ATPase (Atp7a) gene in rat intestinal epithelial (IEC-6) cells increases iron flux via transcriptional induction of ferroportin 1 (Fpn1) | Q28575878 |
| | Copper deficiency in rodents alters dopamine beta-mono-oxygenase activity, mRNA and protein level | Q28580532 |
| | Copper distribution in fetus and placenta of the macular mutant mouse as a model of Menkes kinky hair disease | Q28589426 |
| | Hepatic metallothionein gene expression in toxic milk mice | Q28590566 |
| | Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants | Q28591479 |
| | Copper-metallothionein in the kidney of macular mice: a model for Menkes disease | Q28594247 |
| | CDD: NCBI's conserved domain database | Q29615740 |
| | X-linked recessive Menkes disease: identification of partial gene deletions in affected males. | Q30332321 |
| | Essential roles in development and pigmentation for the Drosophila copper transporter DmATP7. | Q30476634 |
| | Animal models of Menkes disease | Q33541696 |
| | ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A. | Q33696716 |
| | Metabolic and molecular bases of Menkes disease and occipital horn syndrome | Q33720831 |
| | Zebrafish models in translational research: tipping the scales toward advancements in human health | Q33814217 |
| | Splice site mutations in the ATP7A gene. | Q33873402 |
| | Menkes disease and infantile epilepsy | Q34021241 |
| | Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment | Q34028117 |
| | Haemolysis and perturbations in the systemic iron metabolism of suckling, copper-deficient mosaic mutant mice - an animal model of Menkes disease. | Q34231704 |
| | Sex chromatin and gene action in the mammalian X-chromosome | Q34263110 |
| | A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration | Q34263233 |
| | The biosynthesis of neuropeptides: peptide alpha-amidation | Q34401086 |
| | Copper, lysyl oxidase, and extracellular matrix protein cross-linking | Q34468104 |
| | Functional copper transport explains neurologic sparing in occipital horn syndrome | Q34582025 |
| | Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model | Q34657353 |
| | Impact of copper limitation on expression and function of multicopper oxidases (ferroxidases) | Q34729814 |
| | Investigation of iron metabolism in mice expressing a mutant Menke's copper transporting ATPase (Atp7a) protein with diminished activity (Brindled; Mo (Br) (/y) ). | Q34776142 |
| | Molecular correlates of epilepsy in early diagnosed and treated Menkes disease | Q35040602 |
| | X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron | Q35598263 |
| | ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model | Q35623439 |
| | 'Am not I a fly like thee?' From genes in fruit flies to behavior in humans | Q35883327 |
| | Altered ATP7A expression and other compensatory responses in a murine model of Menkes disease | Q36088166 |
| | In vivo correction of a Menkes disease model using antisense oligonucleotides | Q36499173 |
| | Molecular insights into the regulation of iron metabolism during the prenatal and early postnatal periods | Q36503282 |
| | Lumenal loop M672-P707 of the Menkes protein (ATP7A) transfers copper to peptidylglycine monooxygenase | Q36631826 |
| | L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model | Q36684997 |
| | Copper homeostasis gene discovery in Drosophila melanogaster. | Q36704720 |
| | Mutations in the murine homologue of the Menkes gene in dappled and blotchy mice | Q36736489 |
| | Function and regulation of human copper-transporting ATPases | Q36872228 |
| | Metabolic crossroads of iron and copper | Q36948822 |
| | Copper-transporting ATPases ATP7A and ATP7B: cousins, not twins | Q37000460 |
| | Peptidylgycine α-amidating monooxygenase and copper: a gene-nutrient interaction critical to nervous system function | Q37066112 |
| | Role of the P-Type ATPases, ATP7A and ATP7B in brain copper homeostasis | Q37112824 |
| | Copper transport to the brain by the blood-brain barrier and blood-CSF barrier | Q37181841 |
| | Molecular diagnosis of Menkes disease: genotype-phenotype correlation. | Q37509970 |
| | Hepcidin, the iron watcher | Q37531144 |
| | Peptidylglycine α-amidating monooxygenase heterozygosity alters brain copper handling with region specificity | Q37610172 |
| | Posttranslational regulation of copper transporters | Q37610865 |
| | Structural organization of human Cu-transporting ATPases: learning from building blocks | Q37620222 |
| | Copper handling machinery of the brain | Q37808945 |
| | Pathology, clinical features and treatments of congenital copper metabolic disorders – Focus on neurologic aspects | Q37812879 |
| | An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. | Q38071046 |
| | Understanding copper sensitivity in zebrafish (Danio rerio) through the intracellular localization of copper transporters in a hepatocyte cell-line ZFL and the tissue expression profiles of copper transporters. | Q39012778 |
| | Distinct functional roles for the Menkes and Wilson copper translocating P-type ATPases in human placental cells. | Q40058916 |
| | Epilepsy in Menkes disease: analysis of clinical stages. | Q40485488 |
| | Copper homoeostasis in Drosophila melanogaster S2 cells | Q40538435 |
| | Type IX Ehlers-Danlos syndrome and Menkes syndrome: the decrease in lysyl oxidase activity is associated with a corresponding deficiency in the enzyme protein. | Q40611941 |
| | Recent developments in Menkes disease | Q40865090 |
| | The mottled gene is the mouse homologue of the Menkes disease gene | Q41037716 |
| | Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. | Q41863725 |
| | Instability of superoxide dismutase 1 of Drosophila in mutants deficient for its cognate copper chaperone | Q41885677 |
| | Comparisons of copper deficiency states in the murine mutants blotchy and brindled. Changes in copper-dependent enzyme activity in 13-day-old mice | Q41940659 |
| | Multiple regulatory mechanisms act in concert to control ferroportin expression and heme iron recycling by macrophages | Q42629549 |
| | Copper-trafficking efficacy of copper-pyruvaldehyde bis(N4- methylthiosemicarbazone) on the macular mouse, an animal model of Menkes disease | Q42717308 |
| | Effect of copper and disulfiram combination therapy on the macular mouse, a model of Menkes disease | Q42717689 |
| | Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease | Q42723820 |
| | PCR-cloning of tilapia ATP7A cDNA and its mRNA levels in tissues of tilapia following copper administrations. | Q42725979 |
| | Ferroxidase activity is required for the stability of cell surface ferroportin in cells expressing GPI-ceruloplasmin | Q42743122 |
| | Distorted copper homeostasis with decreased sensitivity to cisplatin upon chaperone Atox1 deletion in Drosophila | Q42744115 |
| | Zebrafish sod1 and sp1 expression are modulated by the copper ATPase gene atp7a in response to intracellular copper status | Q42776376 |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Menkes disease | Q639203 |
| P304 | page(s) | 72 | |
| P577 | publication date | 2015-01-01 | |
| P1433 | published in | Frontiers in Molecular Neuroscience | Q27721913 |
| P1476 | title | Mottled Mice and Non-Mammalian Models of Menkes Disease | |
| P478 | volume | 8 | |