Gene network analysis identifies dysregulated pathways in an autism spectrum disorder caused by mutations in Transcription Factor 4

• Published in: Scientific reports Vol. 15; no. 1; pp. 4993 - 15
• Main Authors: de Carvalho, Lucas M., Carvalho, Vinicius M. A., Camargo, Antonio P., Papes, Fabio
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 10.02.2025; Nature Publishing Group; Nature Portfolio
• Subjects: 631/114; 692/617/375/366/1373; Autism; Autism Spectrum Disorder - genetics; Autism Spectrum Disorder - metabolism; Cell adhesion; Cell differentiation; Cell interactions; Cell signaling; Co-expression analysis; Excitability; Gene Expression Profiling; Gene Regulatory Networks; Genes; Histones; Hub genes; Humanities and Social Sciences; Humans; Interactome; Molecular modelling; multidisciplinary; Mutation; Neural stem cells; Neural Stem Cells - metabolism; Neurodevelopment; Neurodevelopmental disorders; Neurons - metabolism; Organoids; Pathogenesis; Pathophysiology; Pitt–Hopkins syndrome; Progenitor cells; Science; Science (multidisciplinary); Signal Transduction; Synaptic transmission; Synaptogenesis; Transcription factors; Transcription Factors - genetics; Transcriptome; Transcriptomics; Pitt–Hopkins syndrome; Autism; Hub genes; Co-expression analysis; Interactome

Pitt–Hopkins syndrome (PTHS) is a rare neurodevelopmental monogenic disorder in the autistic spectrum caused by mutations in the Transcription Factor 4 gene. Even though the genetic etiology is known, the molecular mechanisms underlying PTHS remain poorly understood. To gain insight into the disease...