Key result
Alternative paradigms for ion channelopathies involve defects in ion channel synthesis, membrane trafficking, and aberrant posttranslational modifications rather than just inherited biophysical mutations.
This review expands the understanding of channelopathies beyond inherited biophysical mutations to include defects in ion channel trafficking, synthesis, and posttranslational modifications.
May broaden channelopathy evaluation beyond biophysical defects; leaves open targeted therapies for trafficking and modification pathways.
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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Curran et al. (2014) conducted a review in Ion channelopathies. Alternative paradigms for ion channelopathies involve defects in ion channel synthesis, membrane trafficking, and aberrant posttranslational modifications rather than just inherited biophysical mutations.
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