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ProteomicsIdentification of a homozygous SCO2 variant in two siblings strengthens the concept of this gene being causative for early-onset axonal Charcot-Marie-Tooth neuropathy
The mitochondrial resident SCO2 protein acts as a copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Recessive mutations in the synthesis of cytochrome C oxidase 2 gene SCO2 were reported in several cases with fatal infantile cardioen...
ORGANISM(S): Homo sapiens (Human) 
2024-05-22 | PXD026283 | Pride
Protein sco2 homolog Rare diseases White blood cell proteomics Axonal neuropathy 
ProteomicsSorafenib induces muscle wasting by disrupting the activity of distinct chromatin regulators
n cancer treatment regimens using chemotherapy, adverse effects can outweigh the benefits. Various chemotherapeutic drugs are linked to skeletal muscle wasting, drastically reducing the chance of survivability of cancer patients. Insights into the molecular basis of chemotherapy-induced cachexia is ...
ORGANISM(S): Mus musculus (Mouse) 
2025-05-07 | PXD054882 | Pride
Mitochondrial respiration Sarcomere organization Muscle contraction Cachexia Sorafenib Tyrosine kinase inhibitors 
ProteomicsPURA Syndrome as a Congenital Myasthenic Disorder: Evidence from Muscle Morphology, Proteomics, and Blood Biomarkers
Dominant PURA variants cause a neurodevelopmental disorder with hypotonia, cognitive impairment, and variable neuromuscular symptoms. Clinical response to pyridostigmine suggests neuromuscular junction (NMJ) involvement, but NMJ architecture, molecular mechanisms, and minimally invasive biomarkers r...
ORGANISM(S): Homo sapiens (Human) 
2026-02-02 | PXD067750 | Pride
Muscle proteomics Thrombospondin-4 (tsp4) Target of nesh-sh3 (tarsh) Congenital myasthenic syndrome (cms) Extracellular vesicles in neuromuscular diseases Periostin (postn) 
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 
UnknownTIP30 counteracts cardiac hypertrophy and failure by inhibiting translational elongation
Not available
S-SCDT-EMM-2018-10018 | biostudies-other
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