Article

Truncated ASXL3 Alters Chromatin Accessibility and Epigenetic Landscape in Bainbridge-Ropers Syndrome Suggesting a Gain-of-Function Etiology

2026-08-05

Abstract excerpt

Bainbridge-Ropers syndrome (BRS) is a rare neurodevelopmental disorder caused by truncating mutations in the epigenetic regulator ASXL3 . While traditionally considered a haploinsufficiency disorder, the precise molecular mechanisms driving BRS remain poorly understood. Here, we combine patient-derived cellular lines and novel mouse models to elucidate the molecular function of disease-associated ASXL3 variants....

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e4f0f165-e259-5a78-a917-e0370b875f1b
DOI: 10.64898/2026.08.04.26359647

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Truncated ASXL3 Alters Chromatin Accessibility and Epigenetic Landscape in Bainbridge-Ropers Syndrome Suggesting a Gain-of-Function EtiologyDOI 10.64898/2026.08.04.26359647Read

ASXL3 truncating patient variants mediate transcriptional gain-of-function and are antisense oligonucleotide-responsiveSemantic proximity Read

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.Semantic proximity Read

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.Semantic proximity Read

Mutant ASXL1 Drives Transcriptional Activation and Repression in Human HematopoiesisSemantic proximity Read

Functional proteomics of the epigenetic regulators ASXL1, ASXL2 and ASXL3: a convergence of proteomics and epigenetics for translational medicine.Semantic proximity Read

Alteration of long non-coding RNAs and mRNAs expression profiles by compound heterozygous ASXL3 mutations in the mouse brain.Semantic proximity Read

Divergent Pathogenic PR-DUB Complex Variants Converge Functionally Via PRC2 Displacement From ChromatinSemantic proximity Read

Mutations in <i>EBF3</i> disturb transcriptional profiles and underlie a novel syndrome of intellectual disability, ataxia and facial dysmorphismSemantic proximity Read

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome.Semantic proximity Read

Speech and Language Development of Two Brothers With Bainbridge-Ropers Syndrome: Phenotypic and Bioinformatic Support for a Cerebellar ASXL3 Hypothesis.Semantic proximity Read

Secreted retrovirus-like GAG-domain-containing protein PEG10 is regulated by UBE3A and is involved in Angelman syndrome pathophysiologySemantic proximity Read