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Taken together, these findings suggested a translation defect present in the ΔEF4 strain at pH 4. As a consequence, fewer amid acids and tRNAs are needed, which in turn induces a decrease in expression of proteins participating in these biosynthesis processes, such as TrpB, glutamate-ammonia ligase, TdcG, and YgfZ.
Downregulation of the C12orf65 protein results in a mitochondrial translation defect and profound multiple respiratory chain defects.
It is interesting to note that whereas the eubacterial orthologue is not essential for in vitro translation assays, this MRPL12 mutation induces a mitochondrial translation defect in human.
Vice versa, mRNAs with uORFs that have clearly reduced ribosome loading in eif3h, tend to have a rather mild translation defect in rpl24b (Additional files 1 and 6).
To investigate whether an additional impairment of 2-thiouridylation compromises the mitochondrial translation defect in RIRCD, we down-regulated TRMU in fibroblasts and myoblasts of a patient.
Moreover, an overall mitochondrial translation defect was observed in the subject's fibroblasts with a significant reduction of synthesis of COXI, COXII and COXIII subunits.
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Specifically, YBC90 (YBC86 tif4631::kan) shows more pronounced growth and translation defects than does YBC88 (YBC87 tif4631 kan) (Fig. 4A vs. Fig. 2A).
They are caused by distinct mechanisms, which include defects in β2-microglobulin synthesis, loss of the gene(s) encoding HLA antigen heavy chain(s), mutations which inhibit the HLA-class I transcription or translation, defects in the regulatory mechanisms controlling HLA antigen expression and/or abnormalities in antigen processing [12] [14].
Mutations in MRPL12 cause translation defects.
The HSALR DM1 mouse model shows similar Clc-1 RNA translation defects.
Dual depletion of Mbnl1 and Mbnl3 therefore initiates both Clc-1 splice errors and translation defects to synergistically enhance myotonia.
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