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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 
ProteomicsCortical pathology in Vanishing white matter
Vanishing white matter (VWM) is classified as a leukodystrophy with astrocytes as primary drivers in its pathogenesis. Magnetic resonance imaging has documented the progressive thinning of cortices in long-surviving patients. Routine histopathological analyses, however, have not yet pointed to corti...
ORGANISM(S): Homo sapiens (Human) 
2023-01-02 | PXD030831 | Pride
Human Lc-msms Brain Astrocytes Vanishing white matter Leukodystrophy 
ProteomicsProteomic dissection of Vanishing white matter pathogenesis
Vanishing white matter (VWM) is a leukodystrophy caused by biallelic pathogenic variants in eukaryotic translation initiation factor 2B. Neuropathology includes lack of reactive gliosis, paucity of myelin, and axonal abnormalities. Alteration in proteins involved in cellular metabolism has also been...
ORGANISM(S): Homo sapiens (Human) 
2024-06-16 | PXD045041 | Pride
Quantitative proteomics Brain Leukodystrophy Vanishing white matter Disease progression 
ProteomicsRegional vulnerability of brain white matter in VWM
Vanishing white matter (VWM) is a leukodystrophy that primarily manifests in young children. In this disease, the brain white matter is differentially affected in a predictable pattern with telencephalic brain areas being more severely affected, while others remain allegedly completely spared. Using...
ORGANISM(S): Homo sapiens (Human) 
2023-06-28 | PXD040861 | Pride
Astrocytopathy Leukodystrophy Vanishing white matter Regional vulnerability 
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