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EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome

31 May 2019

Abstract excerpt

Abstract Shwachman-Diamond syndrome (SDS) is a recessive disorder typified by bone marrow failure and predisposition to hematological malignancies. SDS is predominantly caused by deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that cooperates with elongation factor-like GTPase 1 (EFL1) to catalyze release of the ribosome antiassociation factor eIF6 and activate translation. Here, we...

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PMID: 31151987
DOI: 10.1182/blood.2018893404

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EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndromePMID 31151987Read ↗

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

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

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Defective ribosome assembly impairs leukemia stem cell function in a murine model of acute myeloid leukemiaSemantic proximity Read ↗

Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome.Semantic proximity Read ↗

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