Associated Papers
A small molecule stabilizer rescues the surface expression of nearly all missense variants in a GPCR.
Mighell TL et al.
Nature Structural & Molecular Biology, 2025
40983772 (PubMed )
Supplement: 41594_2025_1659_MOESM5_ESM.xlsx › Fig._2a
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Liao P et al.
Frontiers in Pediatrics, 2021
33996673 (PubMed )
Supplement: Data_Sheet_1.pdf
Evaluation of pharmacochaperone-mediated rescue of mutant V2 receptor proteins.
Erdem Tuncdemir B et al.
European Journal of Pharmacology, 2019
Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus.
Erdem B et al.
Endocrine Connections, 2018
Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.
Duzenli D et al.
Endocrine, 2012
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