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We have identified differentially expressed genes and defects in processing of UsnRNAs in BRAT1-deficient and BRAT1-mutated patient cells by RNA-sequencing and BRAT1 as a structural and functional component of Integrator, linking defects in this critical endonuclease complex with hereditary neurodeg...
ORGANISM(S): Homo sapiens 
Mutations in BRAT1, encoding BRCA1-associated ATM activator 1, have been associated with neurodevelopmental and neurodegenerative disorders characterized by heterogeneous phenotypes with varying levels of clinical severity. However, the underlying molecular mechanisms of disease pathology remain poo...
ORGANISM(S): Homo sapiens (Human) 
2022-08-30 | PXD028591 | Pride
Repressor element-1 silencing transcription factor (REST) is required for mature neurons formation. REST dysregulation underlies a key mechanism of neurodegeneration associated with neurological disorders. However, the mechanisms leading to alterations of REST-mediated silencing of key neurogenesis ...
ORGANISM(S): Homo sapiens (Human) 
2025-05-06 | PXD050622 | Pride
Neuronal differentiation requires BRAT1 complex to remove REST from chromatin
Repressor element-1 silencing transcription factor (REST) is required for the formation of mature neurons. REST dysregulation underlies a key mechanism of neurodegeneration associated with neurological disorders. However, the mechanisms leading to alterations of REST-mediated silencing of key neurog...
ORGANISM(S): Homo sapiens 
2025-06-20 | GSE237396 | GEO
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