Publication: Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis
Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis
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Jönsson, Å. L. M., Hernando, N., Knöpfel, T., Mogensen, S., Bendstrup, E., Hilberg, O., Christensen, J. H., Simonsen, U., & Wagner, C. A. (2022). Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis. Human Genomics, 16, 13. https://doi.org/10.1186/s40246-022-00387-y
Abstract
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Abstract
Background: Variants in SLC34A2 encoding the sodium-dependent phosphate transport protein 2b (NaPi-IIb) cause the rare lung disease pulmonary alveolar microlithiasis (PAM). PAM is characterised by the deposition of calcium-phosphate concretions in the alveoli usually progressing over time. No effective treatment is available. So far, 30 allelic variants in patients have been reported but only a few have been functionally characterised. This study aimed to determine the impact of selected SLC34A2 variants on transporter expression and
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- Jönsson, Åsa Lina M
- Hernando, Nati
- Knöpfel, Thomas
- Mogensen, Susie
- Bendstrup, Elisabeth
- Hilberg, Ole
- Christensen, Jane Hvarregaard
- Simonsen, Ulf
- Wagner, Carsten A
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Jönsson, Å. L. M., Hernando, N., Knöpfel, T., Mogensen, S., Bendstrup, E., Hilberg, O., Christensen, J. H., Simonsen, U., & Wagner, C. A. (2022). Impaired phosphate transport in SLC34A2 variants in patients with pulmonary alveolar microlithiasis. Human Genomics, 16, 13. https://doi.org/10.1186/s40246-022-00387-y
