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Article

A proteomic approach to investigate the role of the MECP2 gene mutation in Rett syndrome redox regulatory pathways.

Archives of biochemistry and biophysics - 1 Feb 2024

Pasqui Arianna, Cicaloni Vittoria, Tinti Laura, Guiotto Anna, Tinti Cristina, Mori Alessia, Bruttini Marco, Hayek Joussef, Pecorelli Alessandra, Salvini Laura, Valacchi Giuseppe

Abstract excerpt

Mutations in the X-linked methyl-CpG-binding 2 (MECP2) gene lead to Rett Syndrome (RTT; OMIM 312750), a devasting neurodevelopmental disorder. RTT clinical manifestations are complex and with different degrees of severity, going from autistic-like behavior to loss of acquired speech, motor skills and cardiac problems. Furthermore, the correlation between the type of MECP2 mutation and the clinical phenotype is...

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PMID: 38110111
DOI: 10.1016/j.abb.2023.109860

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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