Protein misfolding diseases represent a major medical challenge. Although the genetic
mutations that cause many misfolding diseases have been identified, there are no cures yet …

Protein-folding diseases are an ongoing medical challenge. Many diseases within this
group are genetically determined, and have no known cure. Among the examples in which …

Loss of function mutations in the hERG (human ether-a-go-go related gene or KCNH2)
potassium channel underlie the proarrhythmic cardiac long QT syndrome type 2. Most often …

Cardiac long QT syndrome type 2 is caused by mutations in the human ether a go-go-
related gene (hERG) potassium channel, many of which cause misfolding and degradation …

The presence of a functional protein at the appropriate location in the cell is the result of the
processes of transcription, translation, folding and trafficking to the correct destination. There …

During ER-associated decay, unfolded membrane-resident proteins are targeted for removal
and degradation by ubiquitin ligases whose identities and precise operations remain …

Protein misfolding diseases often lead to the retention and degradation of important proteins
within the endoplasmic reticulum (ER). Strategies to reduce the stringency of ER quality …

The endoplasmic reticulum (ER) is the site where most secretory proteins acquire their
native conformation and gain access to the secretory pathway, and the cell surface. Proteins …

Many diseases are caused by defects in protein trafficking. Protein trafficking diseases occur
when a mutant protein is recognized by the endoplasmic reticulum (ER) quality control …

Most proteins in the secretory pathway are translated, folded, and subjected to quality
control at the endoplasmic reticulum (ER). These processes must be flexible enough to …