Article

A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental/neurodegenerative syndrome demonstrates the role of histone H3.3 in chromatin dynamics, neuronal differentiation, and maturation

2024-08-26

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Bryant-Li-Bhoj neurodevelopmental syndrome (BLBS) is neurogenetic disorder caused by variants in H3-3A and H3-3B, the two genes that encode histone H3.3. Ninety-nine percent of individuals with BLBS show developmental delay/intellectual disability, but the mechanism by which variants in H3.3 result in these phenotypes is not yet understood, limiting the therapeutic interve...

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Literature Corpus work: 2174fec9-a712-53cf-b3ba-2148f5e95151
DOI: 10.1101/2024.08.26.609745

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