Jurnal Internasional Mutasi EFL1 merusak pelepasan eIF6 yang menyebabkan sindrom Shwachman-Diamond

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Jurnal Internasional Mutasi EFL1 merusak pelepasan eIF6 yang menyebabkan sindrom Shwachman-Diamond

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Shwachman-Diamond Syndrome (SDS) is a recessive disorder characterized by bone marrow failure and predisposing to haematological malignancies. SDS is largely due to a deficiency of the allosteric regulator Shwachman-Bodian-Diamond syndrome that works with GTPase 1 (EFL1) such as elongation factors to catalyze the release of eIF6 ribosome anti-association factors and activate translation. Here, we report a biallelic mutation in EFL1 in 3 individuals not related to SDS clinical features. Cellular defects in these people include impaired ribosomal subunits and weakening of global protein translation as a consequence of damaged eIF6 evictions. In mice, Efl1 deficiency recapitulates key aspects of the SDS phenotype. By identifying the biallelic mutation EFL1 at SDS, we define this leukemic predisposing disorder as a ribosomopathy caused by corruption of a conserved fundamental mechanism, which licenses the entry of large ribosomal subunits into translation. ] Liked this:

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