| Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth. | Knockdown of the Shwachman-Diamond syndrome gene, SBDS, induces galectin-1 expression and impairs cell growth.
Yamaguchi M, Sera Y, Toga-Yamaguchi H, Kanegane H, Iguchi Y, Fujimura K. | 03/26/2024 |
| M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression. | M phase-specific interaction between SBDS and RNF2 at the mitotic spindles regulates mitotic progression.
Sera Y, Imanaka T, Yamaguchi M. | 11/3/2023 |
| A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS. | A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.
Spinetti E, Delre P, Saviano M, Siliqi D, Lattanzi G, Mangiatordi GF., Free PMC Article | 08/6/2022 |
| SBDS interacts with RNF2 and is degraded through RNF2-dependent ubiquitination. | SBDS interacts with RNF2 and is degraded through RNF2-dependent ubiquitination.
Sera Y, Sadoya M, Ichinose T, Matsuya S, Imanaka T, Yamaguchi M. | 03/19/2022 |
| Somatic genetic rescue of a germline ribosome assembly defect. | Somatic genetic rescue of a germline ribosome assembly defect.
Tan S, Kermasson L, Hilcenko C, Kargas V, Traynor D, Boukerrou AZ, Escudero-Urquijo N, Faille A, Bertrand A, Rossmann M, Goyenechea B, Jin L, Moreil J, Alibeu O, Beaupain B, Bôle-Feysot C, Fumagalli S, Kaltenbach S, Martignoles JA, Masson C, Nitschké P, Parisot M, Pouliet A, Radford-Weiss I, Tores F, de Villartay JP, Zarhrate M, Koh AL, Phua KB, Reversade B, Bond PJ, Bellanné-Chantelot C, Callebaut I, Delhommeau F, Donadieu J, Warren AJ, Revy P., Free PMC Article | 09/18/2021 |
| Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype. | Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.
Furutani E, Shah AS, Zhao Y, Andorsky D, Dedeoglu F, Geddis A, Zhou Y, Libermann TA, Myers KC, Shimamura A. | 05/1/2021 |
| Dual regulation of p53 by the ribosome maturation factor SBDS. | Dual regulation of p53 by the ribosome maturation factor SBDS.
Hao Q, Wang J, Chen Y, Wang S, Cao M, Lu H, Zhou X., Free PMC Article | 04/17/2021 |
| Shwachman-Bodian-Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia. | Shwachman-Bodian-Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia.
Dun MD, Mannan A, Rigby CJ, Butler S, Toop HD, Beck D, Connerty P, Sillar J, Kahl RGS, Duchatel RJ, Germon Z, Faulkner S, Chi M, Skerrett-Byrne D, Murray HC, Flanagan H, Almazi JG, Hondermarck H, Nixon B, De Iuliis G, Chamberlain J, Alvaro F, de Bock CE, Morris JC, Enjeti AK, Verrills NM., Free PMC Article | 01/9/2021 |
| SBDS is a telomere-protecting protein that participates in regulating telomerase recruitment. | Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment.
Liu Y, Liu F, Cao Y, Xu H, Wu Y, Wu S, Liu D, Zhao Y, Songyang Z, Ma W., Free PMC Article | 06/8/2019 |
| SBDS protein expression in various types of bone marrow cell is restored by ataluren, a small molecule which suppresses nonsense mutations. | Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells.
Bezzerri V, Bardelli D, Morini J, Vella A, Cesaro S, Sorio C, Biondi A, Danesino C, Farruggia P, Assael BM, D'amico G, Cipolli M. | 05/4/2019 |
| the effect of SBDS mutations on the interaction with EFL1were tested, and showed that all tested mutations disrupted the binding to EFL1. | Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.
Gijsbers A, Montagut DC, Méndez-Godoy A, Altamura D, Saviano M, Siliqi D, Sánchez-Puig N., Free PMC Article | 03/30/2019 |
| Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients. | Structural variation in SBDS gene, with loss of exon 3, in two Shwachman-Diamond patients.
Minelli A, Nacci L, Valli R, Pietrocola G, Ramenghi U, Locatelli F, Brescia L, Nicolis E, Cipolli M, Danesino C. | 02/17/2018 |
| SBDS mutation is associated with Shwachman Diamond-Syndrome. | The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.
Delaporta P, Sofocleous C, Economou M, Makis A, Kostaridou S, Kattamis A. | 11/4/2017 |
| SBDS function is specifically required for efficient translation re-initiation into the protein isoforms C/EBPalpha-p30 and C/EBPbeta-LIP, which is controlled by a single cis-regulatory upstream open reading frame (uORF) in the 5' untranslated regions (5' UTRs) of both mRNAs. | Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs.
In K, Zaini MA, Müller C, Warren AJ, von Lindern M, Calkhoven CF., Free PMC Article | 07/8/2017 |
| Association of Elongation Factor-like 1 (EFL1) GTPase to SBDS did not modify the affinity for GTP but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide. | Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.
García-Márquez A, Gijsbers A, de la Mora E, Sánchez-Puig N, García-Márquez A, Gijsbers A, de la Mora E, Sánchez-Puig N., Free PMC Articles: PMC4505017, PMC4505017 | 05/8/2017 |
| 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 | Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.
Topa A, Tulinius M, Oldfors A, Hedberg-Oldfors C. | 01/14/2017 |
| Upon EFL1 binding, SBDS is repositioned around helix 69, thus facilitating a conformational switch in EFL1 that displaces eIF6 by competing for an overlapping binding site on the 60S ribosomal subunit. | Mechanism of eIF6 release from the nascent 60S ribosomal subunit.
Weis F, Giudice E, Churcher M, Jin L, Hilcenko C, Wong CC, Traynor D, Kay RR, Warren AJ., Free PMC Article | 03/12/2016 |
| Association of EFL1 to SBDS did not modify the affinity for GTP but dramatically decreased that for GDP by increasing the dissociation rate of the nucleotide. | Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.
García-Márquez A, Gijsbers A, de la Mora E, Sánchez-Puig N, García-Márquez A, Gijsbers A, de la Mora E, Sánchez-Puig N., Free PMC Articles: PMC4505017, PMC4505017 | 10/17/2015 |
| Genetic variations in exon 2 of SBDS gene do not appear to be contributing to aplastic anemia in the north Indian population. | Variations in exon-2 of SBDS gene and its association with aplastic anemia.
Jain D, Malik AA, Kumar A, Malik BK, Raina V. | 07/4/2015 |
| The interaction between EFL1 and SBDS was analyzed by size exclusion chromatography, gel shift assay, and isothermal titration calorimetry. The results showed that EFL1 interacted directly with SBDS. | Direct interaction between EFL1 and SBDS is mediated by an intrinsically disordered insertion domain.
Asano N, Atsuumi H, Nakamura A, Tanaka Y, Tanaka I, Yao M. | 04/19/2014 |
| SBDS protein acts as a nucleotide exchange factor that stabilizes binding to GTP for human GTPase. | Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome.
Gijsbers A, García-Márquez A, Luviano A, Sánchez-Puig N. | 10/19/2013 |
| Lack of mutation in exon 2 of sbds protein in acute myeloid leukemia suggests this subset is unlikely to have underlying sds | Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia.
Aalbers AM, Calado RT, Young NS, Zwaan CM, Kajigaya S, Baruchel A, Geleijns K, de Haas V, Kaspers GJ, Reinhardt D, Trka J, Kuijpers TW, Pieters R, van der Velden VH, van den Heuvel-Eibrink MM., Free PMC Article | 06/22/2013 |
| We conclude that knockdown of SBDS leads to growth inhibition and defects in ribosome maturation | Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS.
Sezgin G, Henson AL, Nihrane A, Singh S, Wattenberg M, Alard P, Ellis SR, Liu JM. | 03/9/2013 |
| SBDS protein facilitates the release of eIF6, a factor that prevents ribosome joining. | Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
Burwick N, Coats SA, Nakamura T, Shimamura A., Free PMC Article | 02/16/2013 |
| mesenchymal stromal cells from MDS patients show low gene and protein expression of DICER1 and DROSHA which are involved in the microRNA biogenesis, as well as their target gene SBDS. | Impaired expression of DICER, DROSHA, SBDS and some microRNAs in mesenchymal stromal cells from myelodysplastic syndrome patients.
Santamaría C, Muntión S, Rosón B, Blanco B, López-Villar O, Carrancio S, Sánchez-Guijo FM, Díez-Campelo M, Alvarez-Fernández S, Sarasquete ME, de las Rivas J, González M, San Miguel JF, Del Cañizo MC., Free PMC Article | 12/22/2012 |