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The loss of the bulge region accompanied by the exacerbation of the CC is presumably leading to the inability to form new membrane discs, ultimately causing photoreceptor cell death (Fig

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These neurons were derived from two control individuals and two SLC1A4 patients and were recorded between 5-9 weeks post-differentiation

Importantly, these toxicities are largely due to on-target effects of systemic mitochondrial uncoupling, which result in uncontrolled heat dissipation, decreased ATP production, and increased cytosolic calcium concentration, potentially eventually leading to death