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

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

Abstract 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-ind...

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Main Authors: Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, Martina Mazzoni, Alessandra Cammareri, Caterina Marchioretti, Laura Goracci, Alessandra Di Veroli, Elena Marchesan, Daniel D’Andrea, Antonella Falconieri, Barbara Torres, Laura Bernardini, Maria Chiara Magnifico, Alessio Paone, Serena Rinaldo, Matteo Della Monica, Stefano D’Arrigo, Diana Postorivo, Anna Maria Nardone, Giuseppe Zampino, Roberta Onesimo, Chiara Leoni, Federico Caicci, Domenico Raimondo, Elena Binda, Laura Trobiani, Antonella De Jaco, Ada Maria Tata, Daniela Ferrari, Francesca Cutruzzolà, Gianluigi Mazzoccoli, Elena Ziviani, Maria Pennuto, Angelo Luigi Vescovi, Jessica Rosati
Format: Article
Language:English
Published: Nature Publishing Group 2022-11-01
Series:Cell Death and Disease
Online Access:https://doi.org/10.1038/s41419-022-05410-7

Internet

https://doi.org/10.1038/s41419-022-05410-7

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