Mutant MRPS5 affects mitoribosomal accuracy and confers stress‐related behavioral alterations

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 mistranslati...

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Pubblicato in:EMBO Rep
Autori principali: Akbergenov, Rashid, Duscha, Stefan, Fritz, Ann‐Kristina, Juskeviciene, Reda, Oishi, Naoki, Schmitt, Karen, Shcherbakov, Dimitri, Teo, Youjin, Boukari, Heithem, Freihofer, Pietro, Isnard‐Petit, Patricia, Oettinghaus, Björn, Frank, Stephan, Thiam, Kader, Rehrauer, Hubert, Westhof, Eric, Schacht, Jochen, Eckert, Anne, Wolfer, David, Böttger, Erik C
Natura: Artigo
Lingua:Inglês
Pubblicazione: John Wiley and Sons Inc. 2018
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Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6216279/
https://ncbi.nlm.nih.gov/pubmed/30237157
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/embr.201846193
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