Article
Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl Syndrome.
International journal of molecular sciences - 20 Aug 2022
Marchese Emanuela, Caterino Marianna, Fedele Roberta, Pirozzi Francesca, Cevenini Armando, Gupta Neha, Ingrosso Diego, Perna Alessandra, Capasso Giovambattista, Ruoppolo Margherita, Zacchia Miriam
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy resulting in multiple organ dysfunctions, including chronic kidney disease (CKD). Despite the recent progress in the 'ciliopathy' field, there is still little information on the mechanisms underlying renal disease. To elucidate these pathomechanisms, we conducted a translational study, including (i) the characterization of the urine metabolomic...
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