Mutations in an unrecognized internal NPT2A PDZ motif disrupt phosphate transport causing congenital hypophosphatemia
W. B. Sneddon, P. A. Friedman, T. Mamonova
bioRxiv · Mar 6, 2023 · PreprintCell Biology
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W. B. Sneddon, P. A. Friedman, T. Mamonova
bioRxiv · Mar 6, 2023 · PreprintCell Biology
P. A. Friedman, T. Mamonova, C. E. Magyar, K. E. Squires, W. B. Sneddon, D. R. Emlet, J. R. Hepler
This study identifies how genetic variants in RGS14 affect its interaction with NHERF1 and regulation of phosphate transport, showing some variants disrupt binding while others maintain function.
bioRxiv · Feb 5, 2019 · PreprintPharmacology & Toxicology