Associated Papers
A disease-causing isoleucyl-tRNA synthetase variant leads to altered protein complex formation and cellular stress response.
Gao H et al.
The Journal of Biological Chemistry, 2026
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.
Lee S et al.
Npj Genomic Medicine, 2025
41354729 (PubMed )
Supplement: 41525_2025_538_MOESM1_ESM.pdf
Atypical Presentation of IARS1-Related Disorder: Expanding the Phenotype and Genotype.
Wongkittichote P et al.
Jimd Reports, 2025
Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency.
Wu J et al.
Frontiers in Pharmacology, 2025
Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.
Watanabe M et al.
Genes, 2024
Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.
Jiang J et al.
Molecular Genetics & Genomic Medicine, 2024
Molecular and Pathological Analyses of IARS1-Deficient Mice: An IARS Disorder Model.
Watanabe M et al.
International Journal of Molecular Sciences, 2023
Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report.
Zou TT et al.
Bmc Pediatrics, 2022
Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy.
Kopajtich R et al.
American Journal of Human Genetics, 2016
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