ReviewThe American journal of pathology2019
Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development.
Review in The American journal of pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 63 citations in OpenAlex.
- Nonfamilial Pseudoxanthoma Elasticum: A Case Report With Review of Selected Literature.Clinical case reports · 2026Article
- Severe Hypertension and Hematologic Abnormalities in Pseudoxanthoma Elasticum: A Pediatric Case Report.Journal of clinical hypertension (Greenwich, Conn.) · 2026Article
- Diabetes-induced vascular calcification is associated with low pyrophosphate and its oral supplementation prevents calcification in diabetic mice.FEBS open bio · 2026Article
- A Fragile Phosphate/Pyrophosphate Balance: From Essential Mineralization to Rare Calcifying Diseases.Current osteoporosis reports · 2025Review
- Association Analysis of ENPP1 Tissue Expression, Polymorphism, and Growth Traits in Xiangsu Pigs.Genes · 2025Article
- Pseudoxanthoma elasticum - Genetics, pathophysiology, and clinical presentation.Progress in retinal and eye research · 2024Review
- Fibroblasts' secretome from calcified and non-calcified dermis in Pseudoxanthoma elasticum differently contributes to elastin calcification.Communications biology · 2024Article
- Plasma lipids in Pseudoxanthoma Elasticum (PXE) patients: A comparative study with population-based reference values and Non-PXE controls.Atherosclerosis plus · 2024Article
- Novel Human Induced Pluripotent Stem Cell-Based Model for Retinal Pigment Epithelial Cells to Reveal Possible Disease Mechanisms for Macular Degeneration in Pseudoxanthoma Elasticum.Journal of ophthalmology · 2024Article
- Clinical and Molecular Characterization of a Patient with Generalized Arterial Calcification of Infancy Caused by RareJournal of personalized medicine · 2023Article
- Significance of Premature Vertebral Mineralization in Zebrafish Models in Mechanistic and Pharmaceutical Research on Hereditary Multisystem Diseases.Biomolecules · 2023Review
- Correlation of systemic involvement and presence of pathological skin calcification assessed by ex vivo nonlinear microscopy in Pseudoxanthoma elasticum.Archives of dermatological research · 2023Article
- Medial Sclerosis-Epidemiology and Clinical Significance.Deutsches Arzteblatt international · 2023Review
- Matrix Metalloproteinases Contribute to the Calcification Phenotype in Pseudoxanthoma Elasticum.Biomolecules · 2023Article
- Human antibodies targeting ENPP1 as candidate therapeutics for cancers.Frontiers in immunology · 2023Article
- Longitudinal assessment of vascular calcification in generalized arterial calcification of infancy.Pediatric radiology · 2022Review
- Article
- Inhibition of the DNA Damage Response Attenuates Ectopic Calcification in Pseudoxanthoma Elasticum.The Journal of investigative dermatology · 2022Article
- INZ-701, a recombinant ENPP1 enzyme, prevents ectopic calcification in an Abcc6Experimental dermatology · 2022Article
- Vitamin K-Dependent Protein Activation: Normal Gamma-Glutamyl Carboxylation and Disruption in Disease.International journal of molecular sciences · 2022Review
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Ectopic mineralization is a global problem and leading cause of morbidity and mortality. The pathomechanisms of ectopic mineralization are poorly understood. Recent studies on heritable ectopic mineralization disorders with defined gene defects have been helpful in elucidation of the mechanisms of ectopic mineralization in general. The prototype of such disorders is pseudoxanthoma elasticum (PXE), a late-onset, slowly progressing disorder with multisystem clinical manifestations. Other conditions include generalized arterial calcification of infancy (GACI), characterized by severe, early-onset mineralization of the cardiovascular system, often with early postnatal demise. In addition, arterial calcification due to CD73 deficiency (ACDC) occurs late in life, mostly affecting arteries in the lower extremities in elderly individuals. These three conditions, PXE, GACI, and ACDC, caused by mutations in ABCC6, ENPP1, and NT5E, respectively, are characterized by reduced levels of inorganic pyrophosphate (PPi) in plasma. Because PPi is a powerful antimineralization factor, it has been postulated that reduced PPi is a major determinant for ectopic mineralization in these conditions. These and related observations on complementary mechanisms of ectopic mineralization have resulted in development of potential treatment modalities for PXE, including administration of bisphosphonates, stable PPi analogs with antimineralization activity. It is conceivable that efficient treatments may soon become available for heritable ectopic mineralization disorders with application to common calcification disorders.
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