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Article

Molecular and Pathological Analyses of IARS1-Deficient Mice: An IARS Disorder Model.

International journal of molecular sciences - 9 Apr 2023

Watanabe Masaki, Shishido Koya, Kanehira Nao, Hiura Koki, Nakano Kenta, Okamura Tadashi, Ando Ryo, Sasaki Hayato, Sasaki Nobuya

Abstract excerpt

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...

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Identifiers

PMID: 37108118
DOI: 10.3390/ijms24086955
PMCID: PMC10138339

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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