Metabolomic fingerprinting of renal disease progression in Bardet-Biedl syndrome reveals mitochondrial dysfunction in kidney tubular cells

Summary: Chronic kidney disease (CKD) is a major clinical sign of patients with Bardet-Biedl syndrome (BBS), especially in those carrying BBS10 mutations. Twenty-nine patients with BBS and 30 controls underwent a serum-targeted metabolomic analysis. In vitro studies were conducted in two kidney-deri...

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Bibliographic Details
Main Authors: Emanuela Marchese, Marianna Caterino, Davide Viggiano, Armando Cevenini, Salvatore Tolone, Ludovico Docimo, Valentina Di Iorio, Francesca Del Vecchio Blanco, Roberta Fedele, Francesca Simonelli, Alessandra Perna, Vincenzo Nigro, Giovambattista Capasso, Margherita Ruoppolo, Miriam Zacchia
Format: Article
Language:English
Published: Elsevier 2022-11-01
Series:iScience
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2589004222015024