This study employs a multi-omics approach to investigate the biochemical impact of AFG3L2 mutations in immortalized lymphoblastoid cell lines derived from a SPAX5 patient. Our proteomic analysis revealed significant dysregulation in proteins involved in mitochondrial function, cytoskeletal integrity...
To identify altered pathways in SCA28 LCLs, we performed a whole genome expression profiling, based on Affymetrix Human Genome U133A 2.0 Chip Array, on LCLs from four unrelated patients, each carrying a different AFG3L2 mutation. Gene expression profiling of 4 patients and 6 healthy controls
This study aims to confirm the pathogenic role of the AFG3L2 F175S mutation in dominant optic atrophy (DOA) and elucidate its molecular mechanisms disrupting mitochondrial morphology and function.
