PMC Links for Protein (Select 1017207214) - PMC

Select item 67547201.

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

Shengjiang Tan, Laëtitia Kermasson, Angela Hoslin, Pekka Jaako, Alexandre Faille, Abraham Acevedo-Arozena, Etienne Lengline, Dana Ranta, Maryline Poirée, Odile Fenneteau, Hubert Ducou le Pointe, Stefano Fumagalli, Blandine Beaupain, Patrick Nitschké, Christine Bôle-Feysot, Jean-Pierre de Villartay, Christine Bellanné-Chantelot, Jean Donadieu, Caroline Kannengiesser, Alan J. Warren, Patrick Revy

Blood. 2019 Jul 18; 134(3): 277–290. Prepublished online 2019 May 31. doi: 10.1182/blood.2018893404

PMCID:: PMC6754720

Abstract Article

Select item 63210102.

Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations

Abril Gijsbers, Diana Carolina Montagut, Alfonso Méndez-Godoy, Davide Altamura, Michele Saviano, Dritan Siliqi, Nuria Sánchez-Puig

Int J Mol Sci. 2018 Dec; 19(12): 4012. Published online 2018 Dec 12. doi: 10.3390/ijms19124012

PMCID:: PMC6321010

Abstract Article PDF–7.7M

Select item 48712383.

Mechanism of eIF6 release from the nascent 60S ribosomal subunit

Félix Weis, Emmanuel Giudice, Mark Churcher, Li Jin, Christine Hilcenko, Chi C Wong, David Traynor, Robert R Kay, Alan J Warren

Nat Struct Mol Biol. Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Nat Struct Mol Biol. 2015 Nov; 22(11): 914–919. Published online 2015 Oct 19. doi: 10.1038/nsmb.3112

PMCID:: PMC4871238

Abstract Article PDF–2.4M

Select item 45050174.

Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein

Adrián García-Márquez, Abril Gijsbers, Eugenio de la Mora, Nuria Sánchez-Puig

J Biol Chem. 2015 Jul 17; 290(29): 17669–17678. Published online 2015 May 19. doi: 10.1074/jbc.M114.626275

PMCID:: PMC4505017

Abstract Article PDF–1.5M

Select item 30840265.

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

Andrew J. Finch, Christine Hilcenko, Nicolas Basse, Lesley F. Drynan, Beatriz Goyenechea, Tobias F. Menne, África González Fernández, Paul Simpson, Clive S. D'Santos, Mark J. Arends, Jean Donadieu, Christine Bellanné-Chantelot, Michael Costanzo, Charles Boone, Andrew N. McKenzie, Stefan M.V. Freund, Alan J. Warren

Genes Dev. 2011 May 1; 25(9): 917–929. doi: 10.1101/gad.623011

PMCID:: PMC3084026

Abstract Article PDF–1.4M

Select item 30045316.

Genomewide Linkage and Peakwide Association Analyses of Carotid Plaque in Caribbean Hispanics

Chuanhui Dong, Ashley Beecham, Susan Slifer, Liyong Wang, Susan H. Blanton, Clinton B. Wright, Tatjana Rundek, Ralph L. Sacco

Stroke. Author manuscript; available in PMC 2010 Dec 20.

Published in final edited form as: Stroke. 2010 Dec; 41(12): 2750–2756. Published online 2010 Oct 21. doi: 10.1161/STROKEAHA.110.596981

PMCID:: PMC3004531

Abstract Article PDF–363K

Select item 29874627.

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

Elsa Nicolas, Yannick Poitelon, Eliane Chouery, Nabiha Salem, Nicolas Levy, André Mégarbané, Valérie Delague

Eur J Hum Genet. 2010 Oct; 18(10): 1107–1113. Published online 2010 Jun 9. doi: 10.1038/ejhg.2010.82

PMCID:: PMC2987462

Abstract Article PDF–508K

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