EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
作者： Shengjiang Tan , Laëtitia Kermasson , Angela Hoslin , Pekka Jaako , Alexandre Faille
关键词:
摘要: … ) to catalyze release of the ribosome antiassociation factor eIF6 and activate translation. Here, we … protein translation as a consequence of defective eIF6 eviction. In mice, Efl1 deficiency …
ashpublications.org
bloodjournal.org参考文章(52)
Marina E. Tourlakis, Siyi Zhang, Heather L. Ball, Rikesh Gandhi, Hongrui Liu, Jian Zhong, Julie S. Yuan, Cynthia J. Guidos, Peter R. Durie, Johanna M. Rommens, In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency PLOS Genetics. ,vol. 11, pp. e1005288- ,(2015) , 10.1371/JOURNAL.PGEN.1005288
Pamela C Yelick, Paul A Trainor, Ribosomopathies: Global process, tissue specific defects Rare diseases (Austin, Tex.). ,vol. 3, ,(2015) , 10.1080/21675511.2015.1025185
Jeffrey A. Bailey, Evan E. Eichler, Primate segmental duplications: crucibles of evolution, diversity and disease Nature Reviews Genetics. ,vol. 7, pp. 552- 564 ,(2006) , 10.1038/NRG1895
Chi C. Wong, David Traynor, Nicolas Basse, Robert R. Kay, Alan J. Warren, Defective ribosome assembly in Shwachman-Diamond syndrome Blood. ,vol. 118, pp. 4305- 4312 ,(2011) , 10.1182/BLOOD-2011-06-353938
Prateek Kumar, Steven Henikoff, Pauline C Ng, Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nature Protocols. ,vol. 4, pp. 1073- 1081 ,(2009) , 10.1038/NPROT.2009.86
Heena Khatter, Alexander G. Myasnikov, S. Kundhavai Natchiar, Bruno P. Klaholz, Structure of the human 80S ribosome Nature. ,vol. 520, pp. 640- 645 ,(2015) , 10.1038/NATURE14427
Marco Gartmann, Michael Blau, Jean-Paul Armache, Thorsten Mielke, Maya Topf, Roland Beckmann, Mechanism of eIF6-mediated Inhibition of Ribosomal Subunit Joining Journal of Biological Chemistry. ,vol. 285, pp. 14848- 14851 ,(2010) , 10.1074/JBC.C109.096057
Graeme R.B. Boocock, Jodi A. Morrison, Maja Popovic, Nicole Richards, Lynda Ellis, Peter R. Durie, Johanna M. Rommens, Mutations in SBDS are associated with Shwachman–Diamond syndrome Nature Genetics. ,vol. 33, pp. 97- 101 ,(2003) , 10.1038/NG1062
Cornelis J.H. Pronk, Derrick J. Rossi, Robert Månsson, Joanne L. Attema, Gudmundur Logi Norddahl, Charles Kwok Fai Chan, Mikael Sigvardsson, Irving L. Weissman, David Bryder, Elucidation of the phenotypic, functional, and molecular topography of a myeloerythroid progenitor cell hierarchy. Cell Stem Cell. ,vol. 1, pp. 428- 442 ,(2007) , 10.1016/J.STEM.2007.07.005
Tobias F Menne, Beatriz Goyenechea, Nuria Sánchez-Puig, Chi C Wong, Louise M Tonkin, Philip J Ancliff, Renée L Brost, Michael Costanzo, Charles Boone, Alan J Warren, The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nature Genetics. ,vol. 39, pp. 486- 495 ,(2007) , 10.1038/NG1994