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

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

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.We report here on a baby girl with cerebellar atrophy, choreoathetosis of limbs and face, intellectual disability and a c...

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Bibliographic Details
Main Authors: Michela Di Nottia, Maria Marchese, Daniela Verrigni, Christian Daniel 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
Format: Article
Language:English
Published: Elsevier 2020-07-01
Series:Neurobiology of Disease
Subjects:
Mitochondrial disorders
Movement disorder
MRPL24
Mitoribosomes
Mitochondrial protein synthesis
Zebrafish
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996120301558

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http://www.sciencedirect.com/science/article/pii/S0969996120301558

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