Key result
The ataxia3 mutation (S21P) in the N-terminal domain of the Nav1.6 sodium channel disrupts anterograde transport from the Golgi complex to the plasma membrane, resulting in loss of channel activity.
The cytoplasmic N-terminal domain of the Nav1.6 sodium channel is required for anterograde transport from the Golgi complex to the plasma membrane, and its mutation causes a severe neurological disorder in mice.
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Identifies N-terminal trafficking defect in Nav1.6 mice; leaves open relevance to human channelopathies.
Sharkey et al. (2009) studied ataxia3 mutation (neurological disorder in mice). ataxia3 mutation (Nav1.6-S21P) vs. Wild-type Nav1.6 was evaluated on Channel activity and intracellular localization. The ataxia3 mutation (S21P) in the N-terminal domain of the Nav1.6 sodium channel disrupts anterograde transport from the Golgi complex to the plasma membrane, resulting in loss of channel activity.
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