A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.

Michela Di Nottia,Maria Marchese,Daniela Verrigni,Christian Mutti,Alessandra Torraco,Romina Oliva,Erika Fernandez-Vizarra,Federica Morani, Giulia Trani,Teresa Rizza,Daniele Ghezzi,Anna Ardissone,Claudia Nesti,Gessica Vasco,Massimo Zeviani,Michal Minczuk,Enrico Bertini,Filippo Maria Santorelli,Rosalba Carrozzo

Neurobiology of Disease（2020）

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摘要

Mitochondrial ribosomal protein large 24 (MRPL24) is 1 of the 82 protein components of mitochondrial ribosomes, playing an essential role in the mitochondrial translation process.

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关键词

Mitochondrial disorders,Movement disorder,MRPL24,Mitoribosomes,Mitochondrial protein synthesis,Zebrafish,Molecular modeling,Protein interactions

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