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Functional characterization of pathogenic SATB2 missense variants identifies distinct effects on chromatin binding and transcriptional activity

Summary: SATB2-associated syndrome is an autosomal dominant neurodevelopmental syndrome caused by genetic alterations in the transcription factor SATB2. The associated phenotype is variable, and genotype-phenotype correlation studies have not yet been able to explain differences in severity and symp...

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Principais autores: Joery den Hoed, Fleur Semmekrot, Jolijn Verseput, Alexander J.M. Dingemans, Dick Schijven, Clyde Francks, Yuri A. Zarate, Simon E. Fisher
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2026-01-01
Serier:HGG Advances
Fag:
SATB2
SATB2-associated syndrome
Glass syndrome
neurodevelopmental disorder
functional characterization
cell-based assays
Online adgang:http://www.sciencedirect.com/science/article/pii/S266624772500140X
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