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Mutant MRPS5 affects mitoribosomal accuracy and confers stress-related behavioral alterations.

EMBO Rep. 2018; 
Akbergenov R, Duscha S, Fritz AK,, Juskeviciene R, Oishi N, Schmitt K, Shcherbakov D, Teo Y, Boukari H, Freihofer P, Isnard-Petit P, Oettinghaus B, Frank S, Thiam K, Rehrauer H, Westhof E, Schacht J, Eckert A, Wolfer D,, Böttger EC.
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Monoclonal Antibody Services The constructs were ordered from GenScript USA Inc.... For immobilization of antibodies, Dynabeads were incubated with 5 lg of monoclonal MT-CO1 anti- body (ab14705, Abcam), monoclonal MT-CO2 antibody (ab110258, Abcam), or polyclonal antibody against Lys14 (customized antibody, GenScript USA Inc. Get A Quote

摘要

The 1555 A to G substitution in mitochondrial 12S A-site rRNA is associated with maternally transmitted deafness of variable penetrance in the absence of otherwise overt disease. Here, we recapitulate the suggested A1555G-mediated pathomechanism in an experimental model of mitoribosomal mistranslation by directed mutagenesis of mitoribosomal protein MRPS5. We first establish that the ratio of cysteine/methionine incorporation and read-through of mtDNA-encoded MT-CO1 protein constitute reliable measures of mitoribosomal misreading. Next, we demonstrate that human HEK293 cells expressing mutant V336Y MRPS5 show increased mitoribosomal mistranslation. As for immortalized lymphocytes of individuals with the pathoge... More

关键词

aging; disease; misreading; mitochondria; protein synthesis