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Article

Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants.

Human molecular genetics - 12 Dec 2023

Zlatic Stephanie A, Werner Erica, Surapaneni Veda, Lee Chelsea E, Gokhale Avanti, Singleton Kaela, Duong Duc, Crocker Amanda, Gentile Karen, Middleton Frank, Dalloul Joseph Martin, Liu William Li-Yun, Patgiri Anupam, Tarquinio Daniel, Carpenter Randall, Faundez Victor

Abstract excerpt

Genes mutated in monogenic neurodevelopmental disorders are broadly expressed. This observation supports the concept that monogenic neurodevelopmental disorders are systemic diseases that profoundly impact neurodevelopment. We tested the systemic disease model focusing on Rett syndrome, which is caused by mutations in MECP2. Transcriptomes and proteomes of organs and brain regions from Mecp2-null mice as well as...

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Identifiers

PMID: 37712894
DOI: 10.1093/hmg/ddad154
PMCID: PMC10729867

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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