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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 
UnknownMulti-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5.
Not available
S-EPMC11882581 | biostudies-literature
UnknownPredicting disease-overarching therapeutic approaches for Congenital Disorders of Glycosylation using multi-OMICS.
Not available
S-EPMC12265611 | biostudies-literature
UnknownMulti-omics profiling identifies a deregulated FUS-MAP1B axis in ALS/FTD-associated UBQLN2 mutants.
Not available
S-EPMC9258132 | biostudies-literature
ProteomicsPhosphoproteomic analysis of UBQLN2 mutant cells
In the project “Phosphoproteomic analysis of UBQLN2 mutant cells” by Laura Strohm, Zehan Hu, Jörn Dengjel, and Christian Behrends eight sets of SILAC experiments were performed, two times four biological replicates, comparing proteome and phosphoproteome of control and UBQLN2 mutant, patient-derived...
ORGANISM(S): Homo sapiens (Human) 
2022-06-28 | PXD029730 | Pride
Human Lc-msms Lcl Phosphoproteomics 
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