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Shwachman-Bodian-Diamond syndrome

SBDS
This gene encodes a member of a highly conserved protein family that exists from archaea to vertebrates and plants. The encoded protein may function in RNA metabolism. Mutations within this gene are associated with Shwachman-Bodian-Diamond syndrome. An alternative transcript has been described, but its biological nature has not been determined. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jul 2008] (from NCBI)
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Top mentioned proteins: SDSL, HAD, AGE, CAN, CAB
Papers on SBDS
Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs.
New
Calkhoven et al., Jena, Germany. In Nucleic Acids Res, Feb 2016
UNASSIGNED: Mutations in the Shwachman-Bodian-Diamond Syndrome (SBDS) gene cause Shwachman-Diamond Syndrome (SDS), a rare congenital disease characterized by bone marrow failure with neutropenia, exocrine pancreatic dysfunction and skeletal abnormalities.
A sequential bioorthogonal dual strategy: ManNAl and SiaNAl as distinct tools to unravel sialic acid metabolic pathways.
New
Foulquier et al., Lille, France. In Chem Commun (camb), Feb 2016
Herein, we propose a Sequential Bioorthogonal Dual Strategy (SBDS) combining the use of two unprotected alkyne-tagged monosaccharide reporters (ManNAl and SiaNAl) with the bioligation of fluorescent probes by copper-catalysed azide-alkyne cycloaddition (CuAAC).
Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of Shwachman-Diamond Syndrome.
New
Jensen et al., Bangkok, Thailand. In J Genet Genomics, Jan 2016
Most patients with SDS contain mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS), encoding a highly conserved protein that has been implicated in ribosome biogenesis.
Mechanism of eIF6 release from the nascent 60S ribosomal subunit.
New
Warren et al., Rennes, France. In Nat Struct Mol Biol, Nov 2015
SBDS protein (deficient in the inherited leukemia-predisposition disorder Shwachman-Diamond syndrome) and the GTPase EFL1 (an EF-G homolog) activate nascent 60S ribosomal subunits for translation by catalyzing eviction of the antiassociation factor eIF6 from nascent 60S ribosomal subunits.
eIF6 anti-association activity is required for ribosome biogenesis, translational control and tumor progression.
Review
New
Biffo et al., Milano, Italy. In Biochim Biophys Acta, Jul 2015
Shwachman-Bodian-Diamond syndrome is caused by loss of function of SBDS protein.
Direct and high throughput (HT) interactions on the ribosomal surface by iRIA.
Biffo et al., Milano, Italy. In Sci Rep, 2014
By approach II we show that eIF6 binding sites on 60S are increased with mild eIF6 depletion and decreased in cells that are devoid of SBDS, a ribosomal factor necessary for 60S maturation and involved in Swachman Diamond syndrome.
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute].
Foretová et al., In Klin Onkol, 2014
RESULTS: There were several deleterious (frame-shift/nonsense) mutations detected in ATM, BAP1, FANCC, FANCI, PMS2, SBDS, ERCC2, RECQL4 genes.
[Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].
Review
Zhang et al., Shanghai, China. In Zhonghua Er Ke Za Zhi, 2013
OBJECTIVE: To study clinical features and gene mutations in Shwachman-Diamond syndrome (SDS), a rare autosomal recessive disease, in children.
Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction.
Impact
Daley et al., Boston, United States. In Cell Stem Cell, 2013
Shwachman-Diamond syndrome (SDS), a rare autosomal-recessive disorder characterized by exocrine pancreatic insufficiency and hematopoietic dysfunction, is caused by mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene.
Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.
Review
Shimamura et al., Cincinnati, United States. In Hematol Oncol Clin North Am, 2013
Mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene are present in most patients.
Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.
GeneRIF
Rommens et al., Toronto, Canada. In Gastroenterology, 2012
Sbds genotypes correlated with phenotypes in a mouse model of Shwachman-Diamond syndrome. Defects developed specifically in the pancreata of mice, reducing growth of mice and production of digestive enzymes.
The ribosome-related protein, SBDS, is critical for normal erythropoiesis.
GeneRIF
Dror et al., Toronto, Canada. In Blood, 2012
Erythropoiesis (in normal stem cells or in cells from Shwachman-Diamond syndrome patients) requires SBDS. Knockdown of SBDS leads to oxidative stress, to increased levels of ROS during erythroid differentiation, and disrupts ribosome biogenesis.
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.
Review
Liu et al., Toronto, Canada. In Ann N Y Acad Sci, 2011
Mutations in the SBDS gene have been shown to cause SDS.
Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.
GeneRIF
Okamura et al., Kure, Japan. In Int J Hematol, 2011
the amount of mutated SBDS protein was decreased
Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.
Review
Liu et al., Seattle, United States. In Semin Hematol, 2011
SDS, due to bi-allelic mutations of the SBDS gene, is a multi-system disorder that also includes bony abnormalities, and pancreatic and neurocognitive dysfunction.
Sbds is required for Rac2-mediated monocyte migration and signaling downstream of RANK during osteoclastogenesis.
GeneRIF
Glogauer et al., Toronto, Canada. In Blood, 2011
Sbds is required for osteoclastogenesis by regulating monocyte migration via Rac2 and osteoclast differentiation signaling downstream of RANK.
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.
GeneRIF
Kuijpers et al., Amsterdam, Netherlands. In Plos One, 2010
SBDS full-length protein was localized in both the nucleus and cytoplasm, whereas patient-related truncated SBDS protein isoforms localize predominantly to the nucleus.
Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia.
Impact
Scadden et al., United States. In Nature, 2010
Examining gene expression altered in osteoprogenitors as a result of Dicer1 deletion showed reduced expression of Sbds, the gene mutated in Schwachman-Bodian-Diamond syndrome-a human bone marrow failure and leukaemia pre-disposition condition.
The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast.
Impact
Warren et al., Cambridge, United Kingdom. In Nat Genet, 2007
The autosomal recessive disorder Shwachman-Diamond syndrome, characterized by bone marrow failure and leukemia predisposition, is caused by deficiency of the highly conserved Shwachman-Bodian-Diamond syndrome (SBDS) protein.
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
Impact
GeneRIF
Rommens et al., Toronto, Canada. In Nat Genet, 2003
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
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