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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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Detalles Bibliográficos
Autores principales:	Potenza, Francesca, Cufaro, Maria Concetta, Di Biase, Linda, Panella, Valeria, Di Campli, Antonella, Ruggieri, Anna Giulia, Dufrusine, Beatrice, Restelli, Elena, Pietrangelo, Laura, Protasi, Feliciano, Pieragostino, Damiana, De Laurenzi, Vincenzo, Federici, Luca, Chiesa, Roberto, Sallese, Michele
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620507/ https://www.ncbi.nlm.nih.gov/pubmed/34830330 http://dx.doi.org/10.3390/ijms222212449

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