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UnknownNon-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
Not available
S-EPMC5700392 | biostudies-literature
ProteomicsMulti-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5
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...
ORGANISM(S): Homo sapiens (Human) 
2025-05-07 | PXD056395 | Pride
Mcu Multi-omics lymphoblasts Spax5 Afg3 like matrix aaa peptidase subunit 2 Liquid biopsy 
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