Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

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 cha...

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Pubblicato in:Sci Rep
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2016
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4857091/
https://ncbi.nlm.nih.gov/pubmed/27146429
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep25441
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