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Vision impairment caused by age-related macular degeneration (AMD) is a global health priority. Retinal pathology is driven by aging and exacerbated by genetic and environmental risk factors. Peripheral blood circulation is increasingly recognised as a contributor to disease initiation and progressi...
ORGANISM(S): Homo sapiens (Human) 
2026-09-07 | PXD076119 | Pride
Mitochondrial DNA encodes thirteen subunits of the oxidative phosphorylation (OXPHOS) system, which are synthesized inside the organelle and essential for cellular energy supply. How mitochondrial gene expression is regulated and integrated into cellular physiology is little understood. Here, we per...
ORGANISM(S): Homo sapiens (Human) 
2025-01-02 | PXD053045 | Pride
Mutations in PRPF31 cause Retinitis pigmentosa type 11 (RP11) through haploinsufficiency, impairing spliceosome assembly and triggering progressive retinal degeneration. While gene augmentation holds therapeutic promise, key questions remain regarding the mechanistic basis of rescue and its therapeu...
ORGANISM(S): Homo sapiens (Human) 
2026-09-30 | PXD076430 | Pride
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