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Validation of metaxin-2 deficient C. elegans as a model for MandibuloAcral Dysplasia associated to mtx-2 (MADaM) syndrome.

Communications biology - 26 Oct 2024

Talarmin-Gas Chloé, Smolyakov Georges, Parisi Cleo, Scandola Cyril, Andrianasolonirina Valérie, Lecoq Cloé, Houtart Valentine, Lee Song-Hua, Adle-Biassette Homa, Thiébot Bénédicte, Ganderton Timothy, Manivet Philippe

Abstract excerpt

MandibuloAcral Dysplasia associated to MTX2 gene (MADaM) is a recently described progeroid syndrome (accelerated aging disease) whose clinical manifestations include skin abnormalities, growth retardation, and cardiovascular diseases. We previously proposed that mtx-2-deficient C. elegans could be used as a model for MADaM and to support this, we present here our comprehensive phenotypic characterization of these...

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PMID: 39462037
DOI: 10.1038/s42003-024-06967-z
PMCID: PMC11513083

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