| review article | Q7318358 |
| scholarly article | Q13442814 |
| P50 | author | Victor Faundez | Q43172297 |
| Stephanie A Zlatic | Q63709843 | ||
| P2093 | author name string | Michael J Petris | |
| Avanti Gokhale | |||
| Heather Skye Comstra | |||
| P2860 | cites work | Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord | Q21092468 |
| The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type IIα | Q24292907 | ||
| COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A | Q24306315 | ||
| A global analysis of SNX27-retromer assembly and cargo specificity reveals a function in glucose and metal ion transport | Q24337927 | ||
| 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 | Q24561838 | ||
| Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy | Q24632623 | ||
| Lysyl oxidase is essential for normal development and function of the respiratory system and for the integrity of elastic and collagen fibers in various tissues | Q24675315 | ||
| Copper signaling in the mammalian nervous system: synaptic effects | Q26849773 | ||
| Biochemical characterization of P-type copper ATPases | Q27021310 | ||
| The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression | Q28117183 | ||
| Cytochrome c oxidase deficiency | Q28189586 | ||
| ATP7A-related copper transport diseases-emerging concepts and future trends | Q28302938 | ||
| Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome | Q69364329 | ||
| An ultrastructural study on the cerebellum of the brindled mouse | Q71384469 | ||
| Mitochondrial abnormalities in Menkes' kinky hair disease (MKHD). Electron-microscopic study of the brain from an autopsy case | Q71781950 | ||
| Cytochrome C oxidase deficiency and neuronal involvement in Menkes' kinky hair disease: immunohistochemical study | Q72736191 | ||
| Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus | Q28306597 | ||
| Metabolic consequences of the cytochrome c oxidase deficiency in brain of copper-deficient Mo(vbr) mice | Q28507748 | ||
| Inactivation of the lysyl oxidase gene Lox leads to aortic aneurysms, cardiovascular dysfunction, and perinatal death in mice | Q28510969 | ||
| Catecholamine biosynthesis and the activity of a number of copper-dependent enzymes in the copper deficient mottled mouse mutants | Q28513563 | ||
| Histochemical study of mitochondrial enzymes in cerebellar cortex of macular mutant mouse, a model of Menkes kinky hair disease | Q28587015 | ||
| Neurodegeneration in the animal model of Menkes' disease involves Bcl-2-linked apoptosis | Q28588740 | ||
| Electron microscopic study on the homozygote (Ml/Ml) of the macular mutant mouse | Q28591705 | ||
| Noradrenaline is essential for mouse fetal development | Q28592319 | ||
| Increase of flux control of cytochrome c oxidase in copper-deficient mottled brindled mice | Q28592691 | ||
| 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 | Q28609321 | ||
| Pam heterozygous mice reveal essential role for Cu in amygdalar behavioral and synaptic function | Q30412889 | ||
| Haploinsufficiency in peptidylglycine alpha-amidating monooxygenase leads to altered synaptic transmission in the amygdala and impaired emotional responses | Q30475836 | ||
| Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein | Q30530787 | ||
| Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy | Q30578370 | ||
| Oxidative phosphorylation at the fin de siècle | Q33538525 | ||
| High 64Cu uptake and retention values in two clinically atypical Menkes patients | Q33593536 | ||
| Menkes disease | Q33676103 | ||
| Menkes disease and infantile epilepsy | Q34021241 | ||
| Inherited copper transport disorders: biochemical mechanisms, diagnosis, and treatment | Q34028117 | ||
| A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation. | Q34148762 | ||
| Dopamine beta-hydroxylase of adrenal chromaffin granules: structure and function | Q34164175 | ||
| A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration | Q34263233 | ||
| Distinct and overlapping roles for AP-1 and GGAs revealed by the "knocksideways" system | Q34294727 | ||
| 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 | Q34419905 | ||
| Nna1 mediates Purkinje cell dendritic development via lysyl oxidase propeptide and NF-κB signaling | Q35688339 | ||
| Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B | Q35709894 | ||
| Molecular mechanisms of resistance and toxicity associated with platinating agents | Q35758048 | ||
| ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis | Q35809393 | ||
| Cell biology of the BLOC-1 complex subunit dysbindin, a schizophrenia susceptibility gene. | Q35875021 | ||
| L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model | Q36684997 | ||
| Fine structure of the cerebellar cortex in Menkes Kinky-hair disease. X-chromosome-linked copper malabsorption | Q36763577 | ||
| Copper imbalances in ruminants and humans: unexpected common ground | Q36828821 | ||
| Function and regulation of human copper-transporting ATPases | Q36872228 | ||
| Trafficking of the Menkes copper transporter ATP7A is regulated by clathrin-, AP-2-, AP-1-, and Rab22-dependent steps | Q36887422 | ||
| Peptidylgycine α-amidating monooxygenase and copper: a gene-nutrient interaction critical to nervous system function | Q37066112 | ||
| Molecular diagnosis of Menkes disease: genotype-phenotype correlation. | Q37509970 | ||
| Peptidylglycine α-amidating monooxygenase heterozygosity alters brain copper handling with region specificity | Q37610172 | ||
| Copper in the brain and Alzheimer's disease | Q37622792 | ||
| Redox regulation of SCO protein function: controlling copper at a mitochondrial crossroad | Q37688102 | ||
| Copper-dependent regulation of NMDA receptors by cellular prion protein: implications for neurodegenerative disorders. | Q37981836 | ||
| Congenital abnormalities in Japanese patients with Menkes disease | Q37987754 | ||
| The many clinical faces of cytochrome c oxidase deficiency | Q38021403 | ||
| Membrane transporters as determinants of the pharmacology of platinum anticancer drugs. | Q38026121 | ||
| An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. | Q38071046 | ||
| Golgi in copper homeostasis: a view from the membrane trafficking field | Q38121020 | ||
| Retromer binding to FAM21 and the WASH complex is perturbed by the Parkinson disease-linked VPS35(D620N) mutation | Q38979528 | ||
| Kinky hair disease: twenty five years later. | Q39228340 | ||
| Menkes' disease--a new leucodystrophy (?). A clinical and neuropathological review together with a new case | Q39959449 | ||
| Copper-dependent co-internalization of the prion protein and glypican-1. | Q40241315 | ||
| Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. | Q41863725 | ||
| Neuropathology of Menkes' disease | Q41936445 | ||
| Trichopoliodystrophy. II. Pathological changes in skeletal muscle and nervous system | Q42437540 | ||
| MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy | Q42688146 | ||
| Identification of hepatic copper-binding proteins from tilapia by column chromatography with proteomic approaches | Q42717469 | ||
| A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. | Q43073850 | ||
| A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase | Q43074212 | ||
| Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein | Q43232414 | ||
| Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome | Q43825198 | ||
| Lysyl oxidase is required for vascular and diaphragmatic development in mice | Q44243394 | ||
| Decreased activity of cytochrome c oxidase in the macular mottled mouse: an immuno-electron microscopic study | Q44581603 | ||
| Cisplatin neurotoxicity: the relationship between dosage, time, and platinum concentration in neurologic tissues, and morphologic evidence of toxicity | Q44706725 | ||
| Deletion of peptide amidation enzymatic activity leads to edema and embryonic lethality in the mouse | Q46753570 | ||
| Atp7a determines a hierarchy of copper metabolism essential for notochord development | Q47073635 | ||
| Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16. | Q47989558 | ||
| Neuronal degeneration in the brain of the brindled mouse. An ultrastructural study of the cerebral cortical neurons | Q48110923 | ||
| Light and electron microscopic study on cerebellar cortex of macular mutant mouse as a model of Menkes kinky hair disease | Q48260651 | ||
| Polydendritic Purkinje cells in X-chromosome linked copper malabsorption: a Golgi study | Q48349818 | ||
| Depletion of brain mitochondria cytochrome oxidase in the mottled mouse mutant | Q48374190 | ||
| Abnormalities of Purkinje cell arborization in brindled mouse cerebellum. A Golgi study | Q48547497 | ||
| Developmental changes in the expression of ATP7A during a critical period in postnatal neurodevelopment | Q48611784 | ||
| Changes of copper level and cytochrome c oxidase activity in the macular mouse with age. | Q48736762 | ||
| Cytochrome c oxidase deficiency in menkes kinky hair disease | Q48839086 | ||
| Chronological observations of histological changes, cytochrome oxidase activity and copper level in the brain of the postnatal brindled mouse | Q48960539 | ||
| AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism. | Q50647622 | ||
| Endosomal trafficking of the Menkes copper ATPase ATP7A is mediated by vesicles containing the Rab7 and Rab5 GTPase proteins. | Q51831636 | ||
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Menkes disease | Q639203 |
| neurodegeneration | Q1755122 | ||
| P304 | page(s) | 154-161 | |
| P577 | publication date | 2015-09-01 | |
| P1433 | published in | Neurobiology of Disease | Q15716606 |
| P1476 | title | Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease | |
| P478 | volume | 81 |
| Q92628627 | Carnosic acid alleviates brain injury through NF‑κB‑regulated inflammation and Caspase‑3‑associated apoptosis in high fat‑induced mouse models |
| Q47612231 | Conserved Oligomeric Golgi and Neuronal Vesicular Trafficking |
| Q47408660 | Copper and Zinc Homeostasis: Lessons from Drosophila melanogaster |
| Q88985442 | Copper regulates rest-activity cycles through the locus coeruleus-norepinephrine system |
| Q39038761 | Metals and neurodegeneration |
| Q39299841 | Neuroimaging Changes in Menkes Disease, Part 2. |
| Q36065482 | Neuronal copper homeostasis susceptibility by genetic defects in dysbindin, a schizophrenia susceptibility factor. |
| Q48514121 | Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees |
| Q95299201 | Rare Genetic Diseases: Nature's Experiments on Human Development |
| Q92501236 | Ratiometric two-photon microscopy reveals attomolar copper buffering in normal and Menkes mutant cells |
| Q58089206 | The Endolysosomal System and Proteostasis: From Development to Degeneration |
| Q33591202 | The interactome of the copper transporter ATP7A belongs to a network of neurodevelopmental and neurodegeneration factors. |
| Q47872107 | Three unreported cases of TMEM199-CDG, a rare genetic liver disease with abnormal glycosylation. |
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