Article
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome.
Scientific reports - 5 May 2016
Ravera Silvia, Dufour Carlo, Cesaro Simone, Bottega Roberta, Faleschini Michela, Cuccarolo Paola, Corsolini Fabio, Usai Cesare, Columbaro Marta, Cipolli Marco, Savoia Anna, Degan Paolo, Cappelli Enrico
Abstract excerpt
Isomorphic mutation of the SBDS gene causes Shwachman-Diamond syndrome (SDS). SDS is a rare genetic bone marrow failure and cancer predisposition syndrome. SDS cells have ribosome biogenesis and their protein synthesis altered, which are two high-energy consuming cellular processes. The reported changes in reactive oxygen species production, endoplasmic reticulum stress response and reduced mitochondrial...
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