Fig. 6 | Signal Transduction and Targeted Therapy

Fig. 6

From: Loss-of-function variations in solute carrier family 38 member 6 are associated with essential tremor

Fig. 6

A working model for variants of SLC38A6 causing ET. Loss-of-function variants of SLC38A6 (encoding SNAT6) lead to arginine homeostasis alterations that result in ferroptosis, which in turn induces mitochondrial abnormalities and electrophysiological dysfunction in PCs. It affects the morphology of PCs, such as soma loss and heterotopia, thickened axons, recurrent axonal collaterals and torpedoes, reduced dendritic complexity, reduced CF‒PC synaptic density, and increased basket cell “hairy” axons as well as the function of PCs, leading to ET

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