An attempt to explain what intrinsically disordered TCF4 does in its spare time when PTHS-related mutations prevent it from doing its job

An attempt to explain what intrinsically disordered TCF4 does in its spare time when PTHS-related mutations prevent it from doing its job

Abstract Pitt-Hopkins Syndrome (PTHS) is a rare neurodevelopmental disorder caused by mutations in the TCF4 gene (18q21.2), encoding the transcription factor 4 (TCF4). This protein is critical for central nervous system development and neuronal maturation. Mutations in TCF4, which range from point m...

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Bibliographic Details
Main Authors: Nikola Sozańska, Viktoryia Krupnik, Beata Greb-Markiewicz, Andrzej Ożyhar, Aneta Tarczewska
Format: Article
Language:English
Published: BMC 2025-06-01
Series:Cell Communication and Signaling
Subjects:
Pitt-Hopkins syndrome (PTHS)
Transcription factor 4 (TCF4)
Neurodevelopment
Genetic disorder
Rare disease
Protein aggregation
Online Access:https://doi.org/10.1186/s12964-025-02265-1
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https://doi.org/10.1186/s12964-025-02265-1

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