2023
DOI: 10.3390/ijms24086955
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Molecular and Pathological Analyses of IARS1-Deficient Mice: An IARS Disorder Model

Abstract: Most mitochondrial diseases are hereditary and highly heterogeneous. Cattle born with the V79L mutation in the isoleucyl-tRNA synthetase 1 (IARS1) protein exhibit weak calf syndrome. Recent human genomic studies about pediatric mitochondrial diseases also identified mutations in the IARS1 gene. Although severe prenatal-onset growth retardation and infantile hepatopathy have been reported in such patients, the relationship between IARS mutations and the symptoms is unknown. In this study, we generated hypomorph… Show more

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Cited by 3 publications
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“…These models include yeast, C. elegans, fruit flies, and zebrafish (Malissovas et al, 2016;Oprescu et al, 2017). Mammalian models have historically been limited to studying forms of ARS-mediated dominant peripheral neuropathy (Achilli et al, 2009;Morelli et al, 2019;Seburn et al, 2006) and are less commonly employed for ARS-mediated recessive diseases, with the exception of recently reported Dars1 (Fröhlich et al 2021) and Iars1 mouse models (Watanabe et al, 2023). Moving forward, mouse models will be critical tools to understand why certain tissues are particularly sensitive to loss-of-function mutations in specific ARS genes, as these questions must be addressed in a model organism with relevant tissue types.…”
Section: Introductionmentioning
confidence: 99%
“…These models include yeast, C. elegans, fruit flies, and zebrafish (Malissovas et al, 2016;Oprescu et al, 2017). Mammalian models have historically been limited to studying forms of ARS-mediated dominant peripheral neuropathy (Achilli et al, 2009;Morelli et al, 2019;Seburn et al, 2006) and are less commonly employed for ARS-mediated recessive diseases, with the exception of recently reported Dars1 (Fröhlich et al 2021) and Iars1 mouse models (Watanabe et al, 2023). Moving forward, mouse models will be critical tools to understand why certain tissues are particularly sensitive to loss-of-function mutations in specific ARS genes, as these questions must be addressed in a model organism with relevant tissue types.…”
Section: Introductionmentioning
confidence: 99%
“…These models include yeast, worms, fruit flies, and zebrafish. 36 , 37 Mammalian models have historically been limited to studying forms of ARS-mediated dominant peripheral neuropathy 38 , 39 , 40 but are increasingly employed for modeling ARS-mediated recessive diseases, including models for Dars1 , 41 , 42 Iars1 43 , Fars2 , 44 Sars2 , 45 and Wars2 . 46 Moving forward, mouse models will be critical tools to understand why certain tissues are particularly sensitive to loss-of-function variants in specific ARS genes, as these questions must be addressed in a model organism with relevant tissue types.…”
Section: Introductionmentioning
confidence: 99%