SBDS deficiency results in less translation capability.
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posted on 2017-01-05, 19:02 authored by Piera Calamita, Annarita Miluzio, Arianna Russo, Elisa Pesce, Sara Ricciardi, Farhat Khanim, Cristina Cheroni, Roberta Alfieri, Marilena Mancino, Chiara Gorrini, Grazisa Rossetti, Ivana Peluso, Massimiliano Pagani, Diego L. Medina, Johanna Rommens, Stefano Biffo(A-B)In Vitro Translation Assay shows a 2- to 3-fold impairment in translation of SBDS-mutant extracts. Equal amounts of translation competent extracts prepared from indicated cells programmed with equal amounts of capped mRNAs. All graphs represent mean ± s.d. Statistic applied was T-test, paired, two-tailed, n≥4. (C-D) SUnSET single cell assay indicates a reduction in the number of cells incorporating mid-high puromycin both in SbdsR126T/R126T (C) and in SbdsMOCK fibroblasts (D) respect to their controls. Negative cells are low-expressing cells. Graphs represent mean ± s.d. Statistic applied was T-test, paired, two-tailed, n≥3.
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60 S subunitsautosomal recessive diseaseSBDS proteinAMLexocrine pancreatic insufficiency3. Chronic lossSBDS loss causesSbds R 126T mouse modelShwachman-Diamond Bodian SyndromegeneATPprotein synthesis capabilityDNA1. Mutant Sbds causes2. Mutant Sbds causesAltered Homeostatic Equilibrium60 S ribosomesSDS
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