Abstract
Mutations in the human SBDS (Shwachman-Bodian-Diamond syndrome) gene are the most common cause of Shwachman-Diamond syndrome, an inherited bone marrow failure syndrome. In this issue of Genes & Development, Finch and colleagues (pp. 917-929) establish that SBDS functions in ribosome synthesis by promoting the recycling of eukaryotic initiation factor 6 (eIF6) in a GTP-dependent manner. This work supports the idea that a ribosomopathy may underlie this syndrome.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Comment
MeSH terms
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Animals
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Bone Marrow Diseases / blood
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Bone Marrow Diseases / genetics
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Bone Marrow Diseases / physiopathology
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Bone and Bones / pathology
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Disease Models, Animal
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Exocrine Pancreatic Insufficiency / blood
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Exocrine Pancreatic Insufficiency / genetics
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Exocrine Pancreatic Insufficiency / physiopathology
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Humans
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Lipomatosis
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Peptide Elongation Factor G / metabolism
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Phosphorylation
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Proteins / genetics
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Proteins / metabolism
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Proto-Oncogene Proteins c-ets / metabolism
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Ribosome Subunits, Large, Eukaryotic / metabolism
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Ribosomes / pathology*
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Shwachman-Diamond Syndrome
Substances
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Peptide Elongation Factor G
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Proteins
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Proto-Oncogene Proteins c-ets
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SBDS protein, human