Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndr...
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
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, endopl...
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Full title
Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4857091
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4857091
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ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/srep25441
