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Article

Phenotype of Mrps5-Associated Phylogenetic Polymorphisms Is Intimately Linked to Mitoribosomal Misreading.

International journal of molecular sciences - 15 Apr 2022

Juskeviciene Reda, Fritz Ann-Kristina, Brilkova Margarita, Akbergenov Rashid, Schmitt Karen, Rehrauer Hubert, Laczko Endre, Isnard-Petit Patricia, Thiam Kader, Eckert Anne, Schacht Jochen, Wolfer David P, Böttger Erik C, Shcherbakov Dimitri

Abstract excerpt

We have recently identified point mutation V336Y in mitoribosomal protein Mrps5 (uS5m) as a mitoribosomal ram (ribosomal ambiguity) mutation conferring error-prone mitochondrial protein synthesis. In vivo in transgenic knock-in animals, homologous mutation V338Y was associated with a discrete phenotype including impaired mitochondrial function, anxiety-related behavioral alterations, enhanced susceptibility to...

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PMID: 35457201
DOI: 10.3390/ijms23084384
PMCID: PMC9030964

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