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Cow (Bovine) Polyclonal SBDS Primary Antibody für IHC, WB - ABIN2782336
Austin, Leary, Shimamura: The Shwachman-Diamond SBDS protein localizes to the nucleolus. in Blood 2005
Show all 2 Pubmed References
Knockdown of the zebrafish sbds ortholog fully recapitulates the spectrum of developmental abnormalities observed in the human Shwachman-Bodian-Diamond syndrome.
The sbds gene function is essential for normal pancreas and myeloid development in zebrafish. Zebrafish is a model system to study sbds gene function and for evaluation of novel therapies for Shwachman-Diamond syndrome.
Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
SBDS mutation is associated with Shwachman Diamond-Syndrome.
SBDS function is specifically required for efficient translation re-initiation into the protein isoforms C/EBPalpha (zeige CEBPA Antikörper)-p30 (zeige CENPV Antikörper) and C/EBPbeta (zeige CEBPB Antikörper)-LIP, which is controlled by a single cis (zeige CISH Antikörper)-regulatory upstream open reading frame (uORF) in the 5' untranslated regions (5' UTRs) of both mRNAs.
Association of EFL1 (zeige EFNA1 Antikörper) to SBDS did not modify the affinity for GTP (zeige AK3 Antikörper) but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide.
The clinical diagnosis was confirmed by detection of compound heterozygous mutations in SBDS using whole-exome sequencing: a recurrent intronic mutation causing aberrant splicing (c.258+2T>C) and a novel missense variant in a highly conserved codon (c.41A>G, p.Asn14Ser), considered to be damaging for the protein structure by in silico prediction programs
Upon EFL1 (zeige EFNA1 Antikörper) binding, SBDS is repositioned around helix 69, thus facilitating a conformational switch in EFL1 (zeige EFNA1 Antikörper) that displaces eIF6 (zeige EIF6 Antikörper) by competing for an overlapping binding site on the 60S ribosomal subunit.
Genetic variations in exon 2 of SBDS gene do not appear to be contributing to aplastic anemia in the north Indian population.
The interaction between EFL1 (zeige EFNA1 Antikörper) and SBDS was analyzed by size exclusion chromatography, gel shift assay, and isothermal titration calorimetry. The results showed that EFL1 (zeige EFNA1 Antikörper) interacted directly with SBDS.
SBDS protein acts as a nucleotide exchange factor that stabilizes binding to GTP (zeige AK3 Antikörper) for human GTPase (zeige RACGAP1 Antikörper).
Lack of mutation in exon 2 of sbds protein in acute myeloid leukemia (zeige BCL11A Antikörper) suggests this subset is unlikely to have underlying sds (zeige SDS Antikörper)
Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes
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.
Sbds is required for osteoclastogenesis by regulating monocyte migration via Rac2 (zeige RAC2 Antikörper) and osteoclast differentiation signaling downstream of RANK.
Sbds is an essential gene for early mammalian development, with an expression pattern consistent with a critical role in cell proliferation.
loss of Sbds is sufficient to induce abnormalities in hematopoiesis
The majority of Shwachman-Diamond syndrome cases are results of mutations in SBDS gene on chromosone 7q11.
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.
ribosome maturation protein SBDS
, shwachman-Bodian-Diamond syndrome protein homolog
, shwachman-Bodian-Diamond syndrome
, Shwachman-Bodian-Diamond syndrome homolog
, protein 22A3