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ProteomicsProteome-wide ubiquitinome profiling reveals substrate-specific dynamics within the USP7 network
USP7 is a deubiquitylating enzyme, a hub of a multi-nodal network, that is involved in tumor suppression, neuro)development, chromatin regulation and the DNA damage response. How USP7 regulates these diverse pathways is still unclear. Here, we used data-independent acquisition and label free quantit...
ORGANISM(S): Homo sapiens (Human) 
2026-09-07 | PXD071773 | Pride
Neurodevelopment Hao-fountain syndrome Ubiquitin Polycomb Usp7 
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 
UnknownPostural Body Sway as Surrogate Outcome for Myelopathy in Adrenoleukodystrophy.
Not available
S-EPMC7379508 | biostudies-literature
UnknownD-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
Not available
S-EPMC6619364 | biostudies-literature
UnknownCortical Pathology in Vanishing White Matter.
Not available
S-EPMC9688115 | biostudies-literature
UnknownProgressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series.
Not available
S-EPMC11233286 | biostudies-literature
ProteomicsUSP7, a protein involved in Hao-Fountain syndrome, controls neuronal differentiation via BCOR-ncPRC1.1
Pathogenic variants in the ubiquitin-specific protease 7 (USP7) gene cause a neurodevelopmental disorder called Hao-Fountain syndrome. However, which of its pleiotropic substrates are relevant for neurodevelopment is undetermined. Here, we present a combination of quantitative proteomics, transcript...
ORGANISM(S): Homo sapiens (Human) 
2025-09-08 | PXD051616 | Pride
Usp7 Prm Dia-ms Label free quantitative proteomics Neuronal differentiation Bcor Hao-fountain syndrome 
UnknownBiallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.
Not available
S-EPMC9281382 | biostudies-literature
UnknownGuanabenz ameliorates disease in vanishing white matter mice in contrast to sephin1.
Not available
S-EPMC9380178 | biostudies-literature
UnknowneIF2B-related disorders: antenatal onset and involvement of multiple organs.
Not available
S-EPMC1180499 | biostudies-literature
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