ReviewTrends in biochemical sciences2019
PXE, a Mysterious Inborn Error Clarified.
Review in Trends in biochemical sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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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.
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Who cites it
27 citing papers in PubMed, 46 citations in OpenAlex.
- Phosphocitrate Is Superior to Pyrophosphate in Preventing Soft Connective Tissue Calcification in a Mouse Model of Pseudoxanthoma Elasticum.bioRxiv : the preprint server for biology · 2026Article
- Article
- ABCC6 and ANK regulate extracellular homeostasis of pyrophosphate and citrate and affect mineral deposition in bones and soft connective tissues.bioRxiv : the preprint server for biology · 2025Article
- High prevalence of breast arterial calcification in pseudoxanthoma elasticum (PXE) - A nationwide study in the Netherlands.Vascular medicine (London, England) · 2024Article
- Plasma lipids in Pseudoxanthoma Elasticum (PXE) patients: A comparative study with population-based reference values and Non-PXE controls.Atherosclerosis plus · 2024Article
- A new perspective on intervertebral disc calcification-from bench to bedside.Bone research · 2024Review
- Do pseudoxanthoma elasticum patients have higher prevalence of kidney stones on computed tomography compared to hospital controls?Clinical and experimental nephrology · 2024Article
- A Regulator Role for the ATP-Binding Cassette Subfamily C Member 6 Transporter in HepG2 Cells: Effect on the Dynamics of Cell-Cell and Cell-Matrix Interactions.International journal of molecular sciences · 2023Article
- Plasma Level of Pyrophosphate Is Low in Pseudoxanthoma Elasticum Owing to Mutations in the ABCC6 Gene, but It Does Not Correlate with ABCC6 Genotype.Journal of clinical medicine · 2023Article
- A new enzymatic assay to quantify inorganic pyrophosphate in plasma.Analytical and bioanalytical chemistry · 2023Article
- Comprehensive Collection and Prediction of ABC Transmembrane Protein Structures in the AI Era of Structural Biology.International journal of molecular sciences · 2022Article
- The Mineralization Regulator ANKH Mediates Cellular Efflux of ATP, Not Pyrophosphate.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Article
- Oral supplementation of inorganic pyrophosphate in pseudoxanthoma elasticum.Experimental dermatology · 2022Article
- Progress and challenges of multidrug resistance proteins in diseases.American journal of cancer research · 2022Review
- Article
- Mutagenic Analysis of the Putative ABCC6 Substrate-Binding Cavity Using a New Homology Model.International journal of molecular sciences · 2021Article
- A phytic acid analogue INS-3001 prevents ectopic calcification in an Abcc6Experimental dermatology · 2021Article
- Structure of Ycf1p reveals the transmembrane domain TMD0 and the regulatory region of ABCC transporters.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions.International journal of molecular sciences · 2021Review
- Generation of fully functional fluorescent fusion proteins to gain insights into ABCC6 biology.FEBS letters · 2021Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 3 countries.
Funding
Abstract
Ever since Garrod deduced the existence of inborn errors in 1901, a vast array of metabolic diseases has been identified and characterized in molecular terms. In 2018 it is difficult to imagine that there is any uncharted backyard left in the metabolic disease landscape. Nevertheless, it took until 2013 to identify the cause of a relatively frequent inborn error, pseudoxanthoma elasticum (PXE), a disorder resulting in aberrant calcification. The mechanism found was not only biochemically interesting but also points to possible new treatments for PXE, a disease that has remained untreatable. In this review we sketch the tortuous road that led to the biochemical understanding of PXE and to new ideas for treatment. We also discuss some of the controversies still haunting the field.
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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.