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Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome.

Henson AL, Moore JB 4th, Alard P, Wattenberg MM, Liu JM, Ellis SR.

Biochem Biophys Res Commun. 2013 Jul 19;437(1):29-34. doi: 10.1016/j.bbrc.2013.06.028. Epub 2013 Jun 19.


Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of Shwachman-Diamond Syndrome.

Kanprasoet W, Jensen LT, Sriprach S, Thitiananpakorn K, Rattanapornsompong K, Jensen AN.

J Genet Genomics. 2015 Dec 20;42(12):671-84. doi: 10.1016/j.jgg.2015.09.004. Epub 2015 Sep 25.


Impaired ribosomal subunit association in Shwachman-Diamond syndrome.

Burwick N, Coats SA, Nakamura T, Shimamura A.

Blood. 2012 Dec 20;120(26):5143-52. doi: 10.1182/blood-2012-04-420166. Epub 2012 Oct 31.


Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.

Tourlakis ME, Zhong J, Gandhi R, Zhang S, Chen L, Durie PR, Rommens JM.

Gastroenterology. 2012 Aug;143(2):481-92. doi: 10.1053/j.gastro.2012.04.012. Epub 2012 Apr 14.


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.

Biochem Biophys Res Commun. 2013 Aug 2;437(3):349-54. doi: 10.1016/j.bbrc.2013.06.077. Epub 2013 Jul 4.


Defective ribosome assembly in Shwachman-Diamond syndrome.

Wong CC, Traynor D, Basse N, Kay RR, Warren AJ.

Blood. 2011 Oct 20;118(16):4305-12. doi: 10.1182/blood-2011-06-353938. Epub 2011 Jul 29.


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.

Pediatr Blood Cancer. 2013 Feb;60(2):281-6. doi: 10.1002/pbc.24300. Epub 2012 Sep 19.


The ribosome-related protein, SBDS, is critical for normal erythropoiesis.

Sen S, Wang H, Nghiem CL, Zhou K, Yau J, Tailor CS, Irwin MS, Dror Y.

Blood. 2011 Dec 8;118(24):6407-17. doi: 10.1182/blood-2011-02-335190. Epub 2011 Sep 30.


In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.

Tourlakis ME, Zhang S, Ball HL, Gandhi R, Liu H, Zhong J, Yuan JS, Guidos CJ, Durie PR, Rommens JM.

PLoS Genet. 2015 Jun 9;11(6):e1005288. doi: 10.1371/journal.pgen.1005288. eCollection 2015 Jun.


Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.

Burwick N, Shimamura A, Liu JM.

Semin Hematol. 2011 Apr;48(2):136-43. doi: 10.1053/j.seminhematol.2011.01.002. Review.


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.

Nucleic Acids Res. 2016 May 19;44(9):4134-46. doi: 10.1093/nar/gkw005. Epub 2016 Jan 13.


eIF6 anti-association activity is required for ribosome biogenesis, translational control and tumor progression.

Brina D, Miluzio A, Ricciardi S, Biffo S.

Biochim Biophys Acta. 2015 Jul;1849(7):830-5. doi: 10.1016/j.bbagrm.2014.09.010. Epub 2014 Sep 22. Review.


The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.

Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, Reed R, Shimamura A.

Blood. 2007 Sep 1;110(5):1458-65. Epub 2007 May 2.


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.

Biochem Biophys Res Commun. 2014 Jan 24;443(4):1251-6. doi: 10.1016/j.bbrc.2013.12.143. Epub 2014 Jan 7.


Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.

Huang JN, Shimamura A.

Curr Opin Hematol. 2011 Jan;18(1):30-5. doi: 10.1097/MOH.0b013e32834114a5. Review.


SBDS expression and localization at the mitotic spindle in human myeloid progenitors.

Orelio C, Verkuijlen P, Geissler J, van den Berg TK, Kuijpers TW.

PLoS One. 2009 Sep 17;4(9):e7084. doi: 10.1371/journal.pone.0007084.


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.

J Biol Chem. 2015 Jul 17;290(29):17669-78. doi: 10.1074/jbc.M114.626275. Epub 2015 May 19.


Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.

Orelio C, van der Sluis RM, Verkuijlen P, Nethe M, Hordijk PL, van den Berg TK, Kuijpers TW.

PLoS One. 2011;6(6):e20727. doi: 10.1371/journal.pone.0020727. Epub 2011 Jun 13.


Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome.

Necchi V, Minelli A, Sommi P, Vitali A, Caruso R, Longoni D, Frau MR, Nasi C, De Gregorio F, Zecca M, Ricci V, Danesino C, Solcia E.

Haematologica. 2012 Jul;97(7):1057-63. doi: 10.3324/haematol.2011.048462. Epub 2012 Jan 22.


Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction.

Tulpule A, Kelley JM, Lensch MW, McPherson J, Park IH, Hartung O, Nakamura T, Schlaeger TM, Shimamura A, Daley GQ.

Cell Stem Cell. 2013 Jun 6;12(6):727-36. doi: 10.1016/j.stem.2013.04.002. Epub 2013 Apr 18.

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