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
Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.
Schlebach JP et al.
The Journal of Membrane Biology, 2015
Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones.
Cheong HI et al.
Nephrology (carlton, Vic.), 2007
Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus.
Schulz A et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
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