Document Type

Article

Publication Date

9-29-2022

Comments

This is the author's accepted manuscript version of the article from the Journal of Investigative Dermatology, 2022 Apr;142(4):1085-1093.

The final published version of the article can be found at: https://doi.org/10.1016/j.jid.2021.08.435

Abstract

Pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder, is caused by inactivating mutations in the ABCC6 gene. The encoded protein, ABCC6, a transmembrane transporter, has a specialized efflux function in hepatocytes by contributing to plasma levels of inorganic pyrophosphate, a potent inhibitor of mineralization in soft connective tissues. Reduced plasma inorganic pyrophosphate levels underlie the ectopic mineralization in pseudoxanthoma elasticum. In this study, we characterized the pathogenicity of three human ABCC6 missense variants using an adenovirus-mediated liver-specific ABCC6 transgene expression system in an Abcc6

Creative Commons License

Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

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PubMed ID

34597610

Language

English

Available for download on Friday, September 29, 2023

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