Article
Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus.
Journal of the American Society of Nephrology : JASN - 1 Jan 2006
Bernier Virginie, Morello Jean-Pierre, Zarruk Alexandro, Debrand Nicolas, Salahpour Ali, Lonergan Michèle, Arthus Marie-Françoise, Laperrière André, Brouard Rémi, Bouvier Michel, Bichet Daniel G
Abstract excerpt
In many mendelian diseases, some mutations result in the synthesis of misfolded proteins that cannot reach a transport-competent conformation. In X-linked nephrogenic diabetes insipidus, most of the mutant vasopressin 2 (V2) receptors are trapped in the endoplasmic reticulum and degraded. They are unable to reach the plasma membrane and promote water reabsorption through the principal cells of the collecting...
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