Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

The Journal of biological chemistry - 17 Jul 2015

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

Abstract excerpt

Ribosome biogenesis is orchestrated by the action of several accessory factors that provide time and directionality to the process. One such accessory factor is the GTPase EFL1 involved in the cytoplasmic maturation of the ribosomal 60S subunit. EFL1 and SBDS, the protein mutated in the Shwachman-Diamond syndrome (SBDS), release the anti-association factor eIF6 from the surface of the ribosomal subunit 60S. Here...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bone Marrow Diseases
Share to Exocrine Pancreatic Insufficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescence Resonance Energy Transfer

Share to GTP Phosphohydrolases

Share to Guanine Nucleotides

Share to Lipomatosis

Share to Peptide Elongation Factors

Share to Ribonucleoprotein, U5 Small Nuclear

Source

Open in PubMed Open full text

Identifiers

PMID: 25991726
DOI: 10.1074/jbc.M114.626275
PMCID: PMC4505017

Genes

EFL1
SBDS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.PMID 25991726Read ↗

Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome.Semantic proximity Read ↗

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.Semantic proximity Read ↗

Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome.Semantic proximity Read ↗

The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast.Semantic proximity Read ↗

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndromeSemantic proximity Read ↗

Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.Semantic proximity Read ↗

Site-specific labeling of SBDS to monitor interactions with the 60S ribosomal subunit.Semantic proximity Read ↗

Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cells.Semantic proximity Read ↗

A Conserved Obg-type GTPase sustains protein synthesis and its physiological roles in eukaryotic cellsSemantic proximity Read ↗

Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.Semantic proximity Read ↗

Guanine nucleotide exchange factor independence of the G-protein eEF1A through novel mutant forms and biochemical properties.Semantic proximity Read ↗

Dynamic states of eIF6 and SDS variants modulate interactions with uL14 of the 60S ribosomal subunitSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.