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ProteomicsThe Human Disease Gene LYSET is Essential for Lysosomal Enzyme Transport and Viral Infection
Lysosomes are key degradative compartments of the cell. Transport to lysosomes ismediated by tagging soluble enzymes with mannose 6-phosphate (M6P) by GlcNAc-1-phosphotransferase whose deficiency leads to the severe lysosomal storage disorder mucolipidosisII (MLII). Several viruses require lysosomal...
ORGANISM(S): Mus musculus (Mouse) 
2022-09-15 | PXD029609 | Pride
Data independent acquisition (dia) Tmem 251 Parallel reaction monitoring (prm) Targeted ms Label free quantification Mouse embryonic fibroblasts 
ProteomicsTargeted Quantification of the Lysosomal Proteome in Complex Samples
The lysosome, as the main degradative organelle of eukaryotic cells, is involved in numerous cellular processes. A defect in one of its proteins often results in lysosomal storage diseases (LSDs). For the study of lysosomal proteins, mass spectrometry (MS) has emerged as the method of choice. Lysoso...
ORGANISM(S): Mus musculus (Mouse) 
2021-03-08 | PXD023278 | Pride
Targeted proteomics Parallel reaction monitoring Label-free quantification Lysosomes Data-independent acquisition 
ProteomicsProteomic dissection of Vanishing white matter pathogenesis
We aimed at gaining more insight into the molecular basis of VWM pathogenesis. Therefore we investigated protein expression patterns in the 2b5ho mouse model using a data-independent mass spectrometry-based quantitative proteomic analysis. The proteome of 4 different brain regions was analyzed at di...
ORGANISM(S): Mus musculus (Mouse) 
2024-06-16 | PXD043872 | Pride
Quantitative proteomics Brain Leukodystrophy Vanishing white matter Disease progression 
ProteomicsThe V-ATPase complex component RNAseK is required for lysosomal hydrolase delivery and autophagosome degradation
Autophagy is a finely orchestrated process required for the lysosomal degradation of cytosolic components. The final degradation step is essential for clearing autophagic cargo and recycling macromolecules. Using a CRISPR/Cas9-based screen, we identify RNAseK, a highly conserved transmembrane protei...
ORGANISM(S): Mus musculus (Mouse) 
2024-08-02 | PXD042079 | Pride
Dia-ms Autophagosome degradation Rnasek Lysosome 
ProteomicsProteomic interactome analyses of Glypican 1 and a putative disease modifying variant
In an 8-year-old girl of consanguineous Turkish parents, who developed ataxic gait and polyneuropathy at the age of 3 years, we identified a biallelic missense variant c.424C>T, p.R142W in Glypican 1 (GPC1) by using whole genome sequencing. Up to date, GPC1 has not been associated with a neuromuscul...
ORGANISM(S): Homo sapiens (Human) 
2023-08-15 | PXD040023 | Pride
Gpc1 Dia-ms Ip Human 
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