Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.

doi:10.1038/s41419-022-05410-7

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Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.

Cell death & disease - 21 Nov 2022

Turco Elisa Maria, Giovenale Angela Maria Giada, Sireno Laura, Mazzoni Martina, Cammareri Alessandra, Marchioretti Caterina, Goracci Laura, Di Veroli Alessandra, Marchesan Elena, D'Andrea Daniel, Falconieri Antonella, Torres Barbara, Bernardini Laura, Magnifico Maria Chiara, Paone Alessio, Rinaldo Serena, Della Monica Matteo, D'Arrigo Stefano, Postorivo Diana, Nardone Anna Maria, Zampino Giuseppe, Onesimo Roberta, Leoni Chiara, Caicci Federico, Raimondo Domenico, Binda Elena, Trobiani Laura, De Jaco Antonella, Tata Ada Maria, Ferrari Daniela, Cutruzzolà Francesca, Mazzoccoli Gianluigi, Ziviani Elena, Pennuto Maria, Vescovi Angelo Luigi, Rosati Jessica

Abstract excerpt

Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder characterized by cognitive and behavioral symptoms, obesity, and sleep disturbance, and no therapy has been developed to alleviate its symptoms or delay disease onset. SMS occurs due to haploinsufficiency of the retinoic acid-induced-1 (RAI1) gene caused by either chromosomal deletion (SMS-del) or RAI1 missense/nonsense mutation. The molecular...

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PMID: 36411275
DOI: 10.1038/s41419-022-05410-7
PMCID: PMC9678881

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