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

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-derived epith...

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Detalles Bibliográficos
Autores principales: Marchese, Emanuela, Caterino, Marianna, Viggiano, Davide, Cevenini, Armando, Tolone, Salvatore, Docimo, Ludovico, Di Iorio, Valentina, Del Vecchio Blanco, Francesca, Fedele, Roberta, Simonelli, Francesca, Perna, Alessandra, Nigro, Vincenzo, Capasso, Giovambattista, Ruoppolo, Margherita, Zacchia, Miriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9587000/
https://www.ncbi.nlm.nih.gov/pubmed/36281451
http://dx.doi.org/10.1016/j.isci.2022.105230

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