ReviewFrontiers in molecular neuroscience2015
Mottled Mice and Non-Mammalian Models of Menkes Disease.
Review in Frontiers in molecular neuroscience, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 29 citations in OpenAlex.
- Distinct signaling mechanisms and proteome phenotypes are elicited by compartment-specific genetic defects of copper homeostasis.bioRxiv : the preprint server for biology · 2026Article
- Copper homeostasis and organelle-dependent mechanisms in bone metabolism: implications for osteoporosis therapy.Frontiers in cell and developmental biology · 2026Review
- A primer on copper biology in the brain.Neurobiology of disease · 2025Review
- Adaptive protein synthesis in genetic models of copper deficiency and childhood neurodegeneration.Molecular biology of the cell · 2025Article
- Effects of Dietary Copper Sources and Levels on Liver Copper Metabolism and the Expression of Transporters in Growing Pigs.Animals : an open access journal from MDPI · 2025Article
- Elesclomol rescues mitochondrial copper deficiency in disease models without triggering cuproptosis.The Journal of pharmacology and experimental therapeutics · 2025Article
- Adaptive protein synthesis in genetic models of copper deficiency and childhood neurodegeneration.bioRxiv : the preprint server for biology · 2024Article
- Insights Into the Role of Copper in Neurodegenerative Diseases and the Therapeutic Potential of Natural Compounds.Current neuropharmacology · 2024Review
- Exploring Copper's role in stroke: progress and treatment approaches.Frontiers in pharmacology · 2024Review
- Genetic diversity, tissue-specific expression, and functional analysis of theFrontiers in genetics · 2023Article
- Decreased Expression of theInternational journal of molecular sciences · 2022Article
- Early clinical signs and treatment of Menkes disease.Molecular genetics and metabolism reports · 2022Article
- Influence of Trace Elements on Neurodegenerative Diseases of The Eye-The Glaucoma Model.International journal of molecular sciences · 2021Review
- Molecular Regulation of Copper Homeostasis in the Male Gonad during the Process of Spermatogenesis.International journal of molecular sciences · 2020Review
- Disulfiram enhanced delivery of orally administered copper into the central nervous system in Menkes disease mouse model.Journal of inherited metabolic disease · 2018Article
- Animal models of Wilson disease.Journal of neurochemistry · 2018Review
- Metabolic etiologies in West syndrome.Epilepsia open · 2018Review
- Multimodal LA-ICP-MS and nanoSIMS imaging enables copper mapping within photoreceptor megamitochondria in a zebrafish model of Menkes disease.Metallomics : integrated biometal science · 2018Article
- Analytical Methods for Imaging Metals in Biology: From Transition Metal Metabolism to Transition Metal Signaling.Analytical chemistry · 2017Review
- Copper and Zinc Homeostasis: Lessons fromFrontiers in genetics · 2017Review
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Menkes disease is a multi-systemic copper metabolism disorder caused by mutations in the X-linked ATP7A gene and characterized by progressive neurodegeneration and severe connective tissue defects. The ATP7A protein is a copper (Cu)-transporting ATPase expressed in all tissues and plays a critical role in the maintenance of copper homeostasis in cells of the whole body. ATP7A participates in copper absorption in the small intestine and in copper transport to the central nervous system (CNS) across the blood-brain-barrier (BBB) and blood-cerebrospinal fluid barrier (BCSFB). Cu is essential for synaptogenesis and axonal development. In cells, ATP7A participates in the incorporation of copper into Cu-dependent enzymes during the course of its maturation in the secretory pathway. There is a high degree of homology (>80%) between the human ATP7A and murine Atp7a genes. Mice with mutations in the Atp7a gene, called mottled mutants, are well-established and excellent models of Menkes disease. Mottled mutants closely recapitulate the Menkes phenotype and are invaluable for studying Cu-metabolism. They provide useful models for exploring and testing new forms of therapy in Menkes disease. Recently, non-mammalian models of Menkes disease, Drosophila melanogaster and Danio rerio mutants were used in experiments which would be technically difficult to carry out in mammals.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.