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Using structure-based analyses and cell models, including patient fibroblasts, of this variant, we found that the missense variant destabilized a critical loop, which disrupted the active site and caused a substantial loss of enzymatic function

This protective action is critical for maintaining oocyte quality and fertilization competence, as free radicals can cause significant damage to genetic material, impairing fertilization and early embryonic development []

The expression of melanogenesis-related genes and proteins, such as TYR, TRP-1, and TRP-2, as well as the microphthalmia-related transcription factor (MITF), was significantly suppressed by LEVs