ArticleDisease models & mechanisms2013
Mutant Enpp1asj mice as a model for generalized arterial calcification of infancy.
Article in Disease models & mechanisms, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
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Who cites it
75 citing papers in PubMed, 95 citations in OpenAlex.
- Retinal Features and Preserved Vision in ENPP1 Deficiency: Long-Term Insights from Multimodal Imaging and Electrophysiology.International journal of molecular sciences · 2026Article
- The prevalence of ENPP1 deficiency in humans with Ossification of the Posterior Longitudinal Ligament and the preclinical efficacy of ENPP1 enzyme therapy in murine Ossification of the Posterior Longitudinal Ligament.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- The effects of elevated phosphate on the kidney - damaging the gatekeeper.Pflugers Archiv : European journal of physiology · 2026Review
- Considerations in the Use of Mouse Models of Vascular and Valvular Calcification.Arteriosclerosis, thrombosis, and vascular biology · 2026Review
- Improvements in hearing loss with bone-targeted enzyme replacement therapy are associated with corrected hypomineralization and osteocyte properties of auditory ossicles in Enpp1-deficient mice.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2025Article
- A Fragile Phosphate/Pyrophosphate Balance: From Essential Mineralization to Rare Calcifying Diseases.Current osteoporosis reports · 2025Review
- Soft tissue calcifications in chronic kidney disease-beyond the vasculature.Pflugers Archiv : European journal of physiology · 2025Review
- A novel small molecule Enpp1 inhibitor improves tumor control following radiation therapy by targeting stromal Enpp1 expression.Scientific reports · 2024Article
- A humanized monoclonal antibody targeting an ectonucleotidase rescues cardiac metabolism and heart function after myocardial infarction.Cell reports. Medicine · 2024Article
- Novel treatment for PXE: Recombinant ENPP1 enzyme therapy.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
- Article
- ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.Annual review of pathology · 2024Review
- Weighing the Evidence for the Roles of Plasma Versus Local Pyrophosphate in Ectopic Calcification Disorders.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype.Journal of clinical medicine · 2023Article
- A new enzymatic assay to quantify inorganic pyrophosphate in plasma.Analytical and bioanalytical chemistry · 2023Article
- Npp1 prevents external tooth root resorption by regulation of cervical cementum integrity.Scientific reports · 2022Article
- ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.Human mutation · 2022Review
- Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.Human mutation · 2022Review
- Catalysis-Independent ENPP1 Protein Signaling Regulates Mammalian Bone Mass.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Activation of AcvR1-Mediated Signaling Results in Semilunar Valve Defects.Journal of cardiovascular development and disease · 2022Article
15 more citing papers are in PubMed but not listed here.
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Generalized arterial calcification of infancy (GACI), an autosomal recessive disorder, is characterized by early mineralization of blood vessels, often diagnosed by prenatal ultrasound and usually resulting in demise during the first year of life. It is caused in most cases by mutations in the ENPP1 gene, encoding an enzyme that hydrolyzes ATP to AMP and inorganic pyrophosphate, the latter being a powerful anti-mineralization factor. Recently, a novel mouse phenotype was recognized as a result of ENU mutagenesis - those mice developed stiffening of the joints, hence the mutant mouse was named 'ages with stiffened joints' (asj). These mice harbor a missense mutation, p.V246D, in the Enpp1 gene. Here we demonstrate that the mutant ENPP1 protein is largely absent in the liver of asj mice, and the lack of enzymatic activity results in reduced inorganic pyrophosphate (PPi) levels in the plasma, accompanied by extensive mineralization of a number of tissues, including arterial blood vessels. The progress of mineralization is highly dependent on the mineral composition of the diet, with significant shortening of the lifespan on a diet enriched in phosphorus and low in magnesium. These results suggest that the asj mouse can serve as an animal model for GACI.
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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.