Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Huntington Disease l: Introduction

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Nonclustered Protocadherins in Autism: Integrating Cell Adhesion and Activity-Dependent Signalling.

The Neuroscientist : a review journal bringing neurobiology, neurology and psychiatry·2026

Same author

European Reference Networks as core health structures where referring genetic newborn screening positive infants: an innovative operational research framework.

Frontiers in public health·2026

Same author

TPH1-dependent maternal hyposerotonemia: long-term effects on adult wild-type mouse offspring.

Communications biology·2026

Same author

Small extracellular vesicle-mediated transfer of HPV16 transcripts from Ca Ski cells increases proliferation of HPV-negative recipient cancer cells.

Cell communication and signaling : CCS·2026

Same author

Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.

The Journal of clinical investigation·2026

Same author

The prenatal sex steroid theory of autism after 25 years.

Nature human behaviour·2026

Search research articles

Related Experiment Video

Updated: Jun 17, 2026

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Published on: May 12, 2015

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder.

Aurélie de Thonel¹, Johanna K Ahlskog^2,3, Kevin Daupin⁴

¹Université de Paris, CNRS, Epigenetics and Cell Fate, F-75013, Paris, France. aurelie.dethonel@univ-paris-diderot.fr.

Nature Communications

|November 17, 2022

Summary

Rubinstein-Taybi syndrome (RSTS) involves mutations in CBP/EP300, impacting brain development. This study reveals CBP/EP300 regulates heat-shock factor 2 (HSF2), crucial for stress response and neurodevelopment, offering new insights into RSTS.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

Related Experiment Videos

Last Updated: Jun 17, 2026

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Immunohistochemical Visualization of Hippocampal Neuron Activity After Spatial Learning in a Mouse Model of Neurodevelopmental Disorders

Published on: May 12, 2015

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

Area of Science:

Molecular Biology
Neuroscience
Genetics

Background:

Rubinstein-Taybi syndrome (RSTS) is a rare neurodevelopmental disorder caused by mutations in CBP or EP300 genes.
The precise molecular mechanisms underlying RSTS neurodevelopmental defects are not fully understood.
Stress-responsive pathways are implicated in brain development but their role in RSTS is unclear.

Purpose of the Study:

To investigate the role of stress-responsive pathways in RSTS.
To characterize the interaction between CBP/EP300 and heat-shock factor 2 (HSF2).
To elucidate the molecular basis of neurodevelopmental defects in RSTS.

Main Methods:

Analysis of CBP/EP300 acetylation of HSF2.
Assessment of HSF2 protein stability and levels in RSTS patient-derived cells.
Generation and analysis of RSTS patient-derived induced pluripotent stem cells (iPSCs) and cerebral organoids.
Investigation of the CBP/EP300-HSF2-N-cadherin signaling cascade.

Main Results:

CBP/EP300 directly acetylates HSF2, promoting its stabilization.
RSTS patient cells exhibit reduced HSF2 levels and altered stress response.
A CBP/EP300-HSF2-N-cadherin pathway is identified, and its disruption impairs neuroepithelial integrity in RSTS organoid models.

Conclusions:

HSF2 stabilization by CBP/EP300 is critical for normal brain development and stress response.
Dysregulation of the CBP/EP300-HSF2 pathway contributes to RSTS pathophysiology.
This study provides a molecular framework for understanding RSTS and potential therapeutic targets.