Mutations inEFL1, anSBDSpartner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome-Reference-Cited by-同舟云学术

Mutations inEFL1, anSBDSpartner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome

Published:2017-03-22 Issue:8 Volume:54 Page:558-566
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Stepensky Polina,Chacón-Flores Montserrat,Kim Katherine H,Abuzaitoun Omar,Bautista-Santos Arnulfo,Simanovsky Natalia,Siliqi Dritan,Altamura Davide,Méndez-Godoy Alfonso,Gijsbers Abril,Naser Eddin Adeeb,Dor Talia,Charrow Joel,Sánchez-Puig Nuria,Elpeleg Orly

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference18 articles.

1. Driving ribosome assembly;Kressler;Biochim Biophys Acta,2010

2. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome;Finch;Genes Dev,2011

3. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast;Menne;Nat Genet,2007

4. Defective guanine nucleotide exchange in the elongation Factor-like 1 (EFL1) GTPase by mutations in the Shwachman-Diamond syndrome protein;García-Márquez;J Biol Chem,2015

5. Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome;Gijsbers;Biochem Biophys Res Commun,2013

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