The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA
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چکیده
منابع مشابه
with ribosomal RNA The human Shwachman - Diamond syndrome
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متن کاملThe Shwachman-Diamond SBDS protein localizes to the nucleolus.
Shwachman-Diamond syndrome (SDS) is an autosomal recessively inherited disorder characterized by exocrine pancreatic insufficiency and bone marrow failure. The gene for this syndrome, SBDS, encodes a highly conserved novel protein. We characterized Shwachman-Bodian-Diamond syndrome (SBDS) protein expression and intracellular localization in 7 patients with SDS and healthy controls. As predicted...
متن کاملAltered Intracellular Localization and Mobility of SBDS Protein upon Mutation in Shwachman-Diamond Syndrome
Shwachman-Diamond Syndrome (SDS) is a rare inherited disease caused by mutations in the SBDS gene. Hematopoietic defects, exocrine pancreas dysfunction and short stature are the most prominent clinical features. To gain understanding of the molecular properties of the ubiquitously expressed SBDS protein, we examined its intracellular localization and mobility by live cell imaging techniques. We...
متن کاملMutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.
Shwachman-Diamond Syndrome (SDS) is a rare multisystem disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and metaphyseal chondrodysplasia. Recent studies show that mutations of SBDS, a gene of unknown function, are present in the majority of patients with SDS. In the present study, we show that most, but not all, patients classified based on rigorous clinical...
متن کاملImpaired ribosomal subunit association in Shwachman-Diamond syndrome.
Shwachman-Diamond syndrome (SDS) is an autosomal-recessive marrow failure syndrome with a predisposition to leukemia. SDS patients harbor biallelic mutations in the SBDS gene, resulting in low levels of SBDS protein. Data from nonhuman models demonstrate that the SBDS protein facilitates the release of eIF6, a factor that prevents ribosome joining. The complete abrogation of Sbds expression in ...
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ژورنال
عنوان ژورنال: Blood
سال: 2007
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood-2007-02-075184