Alternative paradigms for ion channelopathies: disorders of ion channel membrane trafficking and posttranslational modification

J Curran, PJ Mohler - Annual review of physiology, 2015 - annualreviews.org
J Curran, PJ Mohler
Annual review of physiology, 2015annualreviews.org
Channelopathies are a diverse set of disorders associated with defects in ion channel (and
transporter) function. Although the vast majority of channelopathies are linked with inherited
mutations that alter ion channel biophysical properties, another group of similar disorders
has emerged that alter ion channel synthesis, membrane trafficking, and/or posttranslational
modifications. In fact, some electrical and episodic disorders have now been identified that
are not defects in the ion channel but instead reflect dysfunction in an ion channel (or …
Channelopathies are a diverse set of disorders associated with defects in ion channel (and transporter) function. Although the vast majority of channelopathies are linked with inherited mutations that alter ion channel biophysical properties, another group of similar disorders has emerged that alter ion channel synthesis, membrane trafficking, and/or posttranslational modifications. In fact, some electrical and episodic disorders have now been identified that are not defects in the ion channel but instead reflect dysfunction in an ion channel (or transporter) regulatory protein. This review focuses on alternative paradigms for physiological disorders associated with protein biosynthesis, folding, trafficking, and membrane retention. Furthermore, the review highlights the role of aberrant posttranslational modifications in acquired channelopathies.
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