Proteomic Analysis of Marinesco–Sjogren Syndrome Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss

Marinesco–Sjogren syndrome (MSS) is a rare multisystem pediatric disorder, caused by loss-of-function mutations in the gene encoding the endoplasmic reticulum cochaperone SIL1. SIL1 acts as a nucleotide exchange factor for BiP, which plays a central role in secretory protein folding. SIL1 mutant cel...

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Autores principales:	Francesca Potenza, Maria Concetta Cufaro, Linda Di Biase, Valeria Panella, Antonella Di Campli, Anna Giulia Ruggieri, Beatrice Dufrusine, Elena Restelli, Laura Pietrangelo, Feliciano Protasi, Damiana Pieragostino, Vincenzo De Laurenzi, Luca Federici, Roberto Chiesa, Michele Sallese
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	protein folding unfolded protein response BiP pathway analysis fibroblast neurodegenerative disease Biology (General) QH301-705.5 Chemistry QD1-999
Acceso en línea:	https://doaj.org/article/26b8ff64eda1412b8c513bacfc32aee1
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Proteomic Analysis of Marinesco–Sjogren Syndrome Fibroblasts Indicates Pro-Survival Metabolic Adaptation to SIL1 Loss

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