Article
ELAC2/RNaseZ-linked cardiac hypertrophy in Drosophila melanogaster.
Disease models & mechanisms - 1 Aug 2021
Migunova Ekaterina, Theophilopoulos Joanna, Mercadante Marisa, Men Jing, Zhou Chao, Dubrovsky Edward B
Abstract excerpt
A severe form of infantile cardiomyopathy (CM) has been linked to mutations in ELAC2, a highly conserved human gene. It encodes Zinc phosphodiesterase ELAC protein 2 (ELAC2), which plays an essential role in the production of mature tRNAs. To establish a causal connection between ELAC2 variants and CM, here we used the Drosophila melanogaster model organism, which carries the ELAC2 homolog RNaseZ. Even though...
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