Key result
EA-1 missense mutations generated Kv1.1 subunits indistinguishable from wild-type, whereas the nonsense mutation exhibited intracellular aggregation that transferred to co-assembled subunits.
Intracellular aggregation of misfolded Kv1.1-containing channels due to nonsense mutations may contribute to the pathophysiology of Episodic ataxia type 1.
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Missense Kv1.1 mutations preserve wild-type trafficking in EA-1; leaves open alternative mechanisms for phenotypic variability.
Manganas et al. (2001) studied Episodic ataxia type 1 (EA-1). EA-1 mutations in the Kv1.1 potassium channel vs. Wild-type Kv1.1 was evaluated on Folding and intracellular trafficking properties. EA-1 missense mutations generated Kv1.1 subunits indistinguishable from wild-type, whereas the nonsense mutation exhibited intracellular aggregation that transferred to co-assembled subunits.
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