Evidence map›Paper›PMID 22900086›Full record

ArticlePloS one2012

Conditional knockout of the Menkes disease copper transporter demonstrates its critical role in embryogenesis.

Yanfang Wang, Sha Zhu, Gary A Weisman, Jonathan D Gitlin, Michael J Petris

Open access · goldAbstract read
In one paragraph

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.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
2.1field-weighted citation impact, top 15% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

25 citing papers in PubMed, 29 citations in OpenAlex.

  1. Article
  2. 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 · 2026
    Review
  3. Article
  4. Oral Elesclomol Treatment Alleviates Copper Deficiency in Animal Models.Frontiers in cell and developmental biology · 2022
    Article
  5. Article
  6. Article
  7. Changes in mammalian copper homeostasis during microbial infection.Metallomics : integrated biometal science · 2020
    Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. CuChemical science · 2018
    Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Canine Models for Copper Homeostasis Disorders.International journal of molecular sciences · 2016
    Review
  19. Article
  20. Autonomous requirements of the Menkes disease protein in the nervous system.American journal of physiology. Cell physiology · 2015
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors at 2 institutions in 1 country.

Yanfang WangDepartment of Biochemistry, University of Missouri, Columbia, Missouri, United States of America.
Sha Zhu
Gary A Weisman
Jonathan D Gitlin
Michael J Petris
University of Missouri · USMarine Biological Laboratory · US

Funding

Biological Roles of Copper in Human NutritionR37DK044464 · NIDDK · WASHINGTON UNIVERSITY · PI GITLIN, JONATHAN DAVID · 2006 to 2015
$3.1M
Regulation of Copper Homeostasis by the MNK proteinR01DK059893 · NIDDK · UNIVERSITY OF MISSOURI-COLUMBIA · PI PETRIS, MICHAEL J. · 2002 to 2011
$2.7M
Tissue-specific pathways of copper homeostasis in growth and developmentR01DK093386 · NIDDK · UNIVERSITY OF MISSOURI-COLUMBIA · PI PETRIS, MICHAEL J. · 2011 to 2016
$2.3M
BIOLOGICAL ROLES OF COPPER IN HUMAN NUTRITIONR01DK044464 · NIDDK · WASHINGTON UNIVERSITY · PI GITLIN, JONATHAN DAVID · 1992 to 2004
$1.5M
NIDDK NIH HHS DK093386NIDDK NIH HHS DK44464NIDDK NIH HHS DK59893NIDDK NIH HHS R01 DK044464NIDDK NIH HHS R01 DK059893NIDDK NIH HHS R01 DK093386NIDDK NIH HHS R37 DK044464
6 · The paper itself

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.

Indexed as

Embryonic DevelopmentAdenosine TriphosphatasesAnimalsCation Transport ProteinsCopper-Transporting ATPasesDisease Models, AnimalEmbryo, MammalianExonsFemaleFibroblastsGene Knockout TechniquesGene OrderGene TargetingGenotypeMaleMenkes Kinky Hair SyndromeAdenosine TriphosphatasesAtp7a protein, mouseCation Transport ProteinsCopper-Transporting ATPases

Identifiers

PMID22900086
PMCPMC3416770
OpenAlexW1980419502

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.