The DOI matches its Crossref record.
ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release
Open accessAbstract
Significance: Pseudoxanthoma elasticum (PXE) is a heritable disease characterized by mineralization of the skin, eyes, and arteries, for which no effective treatment exists. PXE is caused by inactivating mutations in the gene encoding the transporter ABCC6. PXE is a metabolic disease caused by the absence of an unknown factor in the circulation. Our study indicates that the factor that normally prevents PXE is pyrophosphate, which is provided to the circulation in the form of nucleoside triphosphates via an ABCC6-dependent mechanism. Our findings provide leads for the treatment of this intractable disease.
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Cited by
Jansen, R. S., Duijst, S., Mahakena, S., Sommer, D., Szeri, F., Váradi, A., Plomp, A., Bergen, A. A., Oude Elferink, R. P. J., Borst, P., et al. (2014) · Arteriosclerosis, Thrombosis, and Vascular Biology · doi:10.1161/atvbaha.114.304017 · Cited by 304
Self-citationPyrophosphate: a key inhibitor of mineralisation
Orriss, I. R., Arnett, T. R., & Russell, R. G. G. (2016) · Current Opinion in Pharmacology · doi:10.1016/j.coph.2016.03.003 · Cited by 181
On the origin of proteins in human drusen: The meet, greet and stick hypothesis
Bergen, A. A., Arya, S., Koster, C., Pilgrim, M. G., Wiatrek-Moumoulidis, D., van der Spek, P. J., Hauck, S. M., Boon, C. J. F., Emri, E., Stewart, A. J., et al. (2019) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.12.003 · Cited by 101
Self-citationProgress in the Molecular Characterization of Hepatobiliary Transporters
Keppler, D. (2017) · Digestive Diseases · doi:10.1159/000450911 · Cited by 33
Metadata
- Authors
- Jansen, R. S., Küçükosmanoğlu, A., de Haas, M., Sapthu, S., Otero, J. A., Hegman, I. E. M., Bergen, A. A. B., Gorgels, T. G. M. F., Borst, P., & van de Wetering, K.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2013-11-25
- Volume
- 110
- Issue
- 50
- Pages
- 20206-20211
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2113307617
- Cited by
- 265
- References
- 0
- FWCI
- 11.33
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release. https://app.cochat.ai/papers/10.1073/pnas.1319582110
- The paper
- Jansen, R. S., Küçükosmanoğlu, A., de Haas, M., Sapthu, S., Otero, J. A., Hegman, I. E. M., Bergen, A. A. B., Gorgels, T. G. M. F., Borst, P., & van de Wetering, K. (2013). ABCC6 prevents ectopic mineralization seen in pseudoxanthoma elasticum by inducing cellular nucleotide release. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1319582110
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