Is it Time to Fold the Cysts Away?

Matteus Krappitz; Anna-Rachel Gallagher; Sorin Fedeles

doi:10.1016/j.molmed.2016.10.001

Is it Time to Fold the Cysts Away?

Trends Mol Med. 2016 Dec;22(12):997-999. doi: 10.1016/j.molmed.2016.10.001. Epub 2016 Oct 25.

Authors

Matteus Krappitz¹, Anna-Rachel Gallagher¹, Sorin Fedeles²

Affiliations

¹ Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA.
² Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, USA. Electronic address: sorin.fedeles@yale.edu.

PMID: 27793600
DOI: 10.1016/j.molmed.2016.10.001

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2, encoding polycystin-1 and polycystin-2, respectively. Optimizing the folding environment for polycystin-1 missense mutations may have a critical effect on the progression of ADPKD in animal models and could potentially lead to tangible therapeutic options for subgroups of ADPKD patients.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Animals
Drug Discovery
Humans
Mutation, Missense / drug effects
Polycystic Kidney, Autosomal Dominant / drug therapy
Polycystic Kidney, Autosomal Dominant / genetics*
Protein Folding / drug effects
TRPP Cation Channels / chemistry
TRPP Cation Channels / genetics*

Substances

TRPP Cation Channels
polycystic kidney disease 1 protein
polycystic kidney disease 2 protein