ArticlePloS one2012
Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 29 citations in OpenAlex.
- Systemic Copper Chelation Reduces Collagen Deposition and Preserves Secretory Function in Irradiated Mouse Salivary Glands.Advances in radiation oncology · 2026Article
- Balancing cellular copper levels via the post-translational regulation of copper transport.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026Review
- Distinct signaling mechanisms and proteome phenotypes are elicited by compartment-specific genetic defects of copper homeostasis.bioRxiv : the preprint server for biology · 2026Article
- Oral Elesclomol Treatment Alleviates Copper Deficiency in Animal Models.Frontiers in cell and developmental biology · 2022Article
- The P-type ATPase transporter ATP7A promotes angiogenesis by limiting autophagic degradation of VEGFR2.Nature communications · 2021Article
- Metallothioneins regulate ATP7A trafficking and control cell viability during copper deficiency and excess.Scientific reports · 2020Article
- Changes in mammalian copper homeostasis during microbial infection.Metallomics : integrated biometal science · 2020Article
- Animal Models of Normal and Disturbed Iron and Copper Metabolism.The Journal of nutrition · 2019Review
- Adipocyte-specific disruption of ATPase copper transporting α in mice accelerates lipoatrophy.Diabetologia · 2019Article
- Copper Transporter ATP7A (Copper-Transporting P-Type ATPase/Menkes ATPase) Limits Vascular Inflammation and Aortic Aneurysm Development: Role of MicroRNA-125b.Arteriosclerosis, thrombosis, and vascular biology · 2019Article
- Therapeutic expression of human clotting factors IX and X following adeno-associated viral vector-mediated intrauterine gene transfer in early-gestation fetal macaques.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- CuChemical science · 2018Article
- Tuning the Color Palette of Fluorescent Copper Sensors through Systematic Heteroatom Substitution at Rhodol Cores.ACS chemical biology · 2018Article
- Host and Pathogen Copper-Transporting P-Type ATPases Function Antagonistically during Salmonella Infection.Infection and immunity · 2017Article
- The Intestinal Copper Exporter CUA-1 Is Required for Systemic Copper Homeostasis in Caenorhabditis elegans.The Journal of biological chemistry · 2017Article
- A Role for The ATP7A Copper Transporter in Tumorigenesis and Cisplatin Resistance.Journal of Cancer · 2017Article
- Multiple di-leucines in the ATP7A copper transporter are required for retrograde trafficking to the trans-Golgi network.Metallomics : integrated biometal science · 2016Article
- Canine Models for Copper Homeostasis Disorders.International journal of molecular sciences · 2016Review
- The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.Disease models & mechanisms · 2016Article
- Autonomous requirements of the Menkes disease protein in the nervous system.American journal of physiology. Cell physiology · 2015Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
The transition metal, copper (Cu), is an enzymatic cofactor required for a wide range of biochemical processes. Its essentiality is demonstrated by Menkes disease, an X-linked copper deficiency disorder characterized by defects in nervous-, cardiovascular- and skeletal systems, and is caused by mutations in the ATP7A copper transporter. Certain ATP7A mutations also cause X-linked Spinal Muscular Atrophy type 3 (SMAX3), which is characterized by neuromuscular defects absent an underlying systemic copper deficiency. While an understanding of these ATP7A-related disorders would clearly benefit from an animal model that permits tissue-specific deletion of the ATP7A gene, no such model currently exists. In this study, we generated a floxed mouse model allowing the conditional deletion of the Atp7a gene using Cre recombinase. Global deletion of Atp7a resulted in morphological and vascular defects in hemizygous male embryos and death in utero. Heterozygous deletion in females resulted in a 50% reduction in live births and a high postnatal lethality. These studies demonstrate the essential role of the Atp7a gene in mouse embryonic development and establish a powerful model for understanding the tissue-specific roles of ATP7A in copper metabolism and disease.
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Registered trials
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.