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Microglia is emerging as a key player in the progression of neurodegenerative diseases. In pediatric neurodegenerative diseases like mucopolysaccharidosis type III (MPSIII), the progressive accumulation of abnormal glycosaminoglycans (GAGs) induces a severe neuroinflammation by triggering a microgli...
ORGANISM(S): Mus musculus (Mouse) 
2025-05-06 | PXD050768 | Pride
Cystinuria is a rare renal genetic disease caused by mutations in cystine transporter genes and characterized by defective cystine reabsorption leading to kidney stones. In 14% of cases patients undergo nephrectomy, but given the difficulty to predict the evolution of the disease, the identification...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2016-03-01 | MSV000079546 | MassIVE
Plasma is a complex biological fluid containing extracellular vesicles (EVs), residual platelets, and soluble proteins, all of which can serve as biomarkers for pathological conditions. While conventional plasma proteomics typically identifies hundreds of proteins, recent enrichment strategies have ...
ORGANISM(S): Homo sapiens (Human) 
2025-10-17 | PXD063673 | Pride
Plasma proteomics holds immense potential for clinical research and biomarker discovery, serving as a non-invasive "liquid biopsy" for tissue sampling. Mass spectrometry (MS)-based proteomics, thanks to improvement in speed and robustness, emerges as an ideal technology for exploring the plasma prot...
ORGANISM(S): Homo sapiens (Human) 
2024-08-14 | PXD047857 | Pride
Metabolic adaptation has recently been recognized as a key component of the intracellular life cycle of pathogenic microorganisms. Upon entry into mammalian host cells, Francisella tularensis, a pathogenic bacterium responsible for the zoonotic disease tularemia, rapidly escapes from the phagosome t...
ORGANISM(S): Francisella tularensis subsp. novicida (strain U112) 
2015-01-28 | PXD001584 | Pride
Cystinosis is a rare autosomal recessive lysosomal storage disorder, characterized by an intra-lysosomal accumulation of cystine. The causative gene for cystinosis is CTNS, which encodes the protein cystinosin, a lysosomal proton-driven cystine transporter. Over 100 mutations are reported, leading t...
ORGANISM(S): Mus musculus (Mouse) 
2017-01-16 | PXD004948 | Pride
Methylmalonic acidemias (MMA) consist in a group of autosomal recessive inherited metabolic disorders whose pathogenesis involves the catabolism of propionyl-CoA. The propionyl-CoA produced from the degradation of cholesterol, branched-chain amino acids (valine, isoleucine, methionine, threonine) an...
ORGANISM(S): Homo sapiens (Human) 
2020-09-07 | PXD017977 | Pride
Cystinosis is a rare autosomal recessive lysosomal storage disorder, characterized by an intra-Cystinosis is a rare autosomal recessive lysosomal storage disorder, characterized by an intra-lysosomal accumulation of cystine. The causative gene for cystinosis is CTNS, which encodes the protein cystin...
ORGANISM(S): Mus musculus (Mouse) Homo sapiens (Human) 
2017-01-16 | PXD005357 | Pride
MHC class I cross-presentation involves final proteolytic peptide processing by the endosomal insulin-regulated aminopeptidase (IRAP). Reasoning that analysis of the IRAP proximal proteome may inform about dynamic remodeling of a key cross-presentation compartment during antigen uptake, we developed...
ORGANISM(S): Mus musculus (Mouse) 
2026-02-09 | PXD067092 | Pride
Mitochondrial disorders show remarkable clinical and genetic heterogeneity, and result from genetic variants in either mitochondrial-encoded or nuclear-encoded genes. CHCHD4 is a component of the mitochondrial import and assembly (MIA) pathway that imports small cysteine-containing substrates such a...
ORGANISM(S): Homo sapiens (Human) 
2026-01-21 | PXD069027 | Pride
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