Heat shock factor 1 signaling: A novel pathway implicated in Rett syndrome pathophysiology.

doi:10.1016/j.jpet.2026.104967

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Article

Heat shock factor 1 signaling: A novel pathway implicated in Rett syndrome pathophysiology.

The Journal of pharmacology and experimental therapeutics - 1 Aug 2026

Gonzalez Sonia, Vanderplow Amanda M, Wilsterman Theresa R, Stratton Matthew P, Smith Mackenzie L, Dodis Grace E, Lane Lauren M, Niswender Colleen M, Gogliotti Rocco G

Abstract excerpt

Rett syndrome (RTT) is a neurodevelopmental disorder that is associated with loss-of-function mutations in the methyl CpG binding protein 2 (MECP2) gene. MECP2 regulates transcription both locally and globally, making it challenging to distinguish between genes that are pathogenic and those that constitute transcriptional noise. A rare subpopulation of patients lack MECP2 mutations despite presenting with...

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Identifiers

PMID: 42456200
DOI: 10.1016/j.jpet.2026.104967

Genes

HSF1
MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.