Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Isoleucyl-tRNA synthetase 1 mutation impairs pulmonary surfactant homeostasis by disrupting alveolar macrophage function.

Respiratory research - 30 Jun 2026

Zhou Weitao, Dai Dan, Chen Yao, Han Xiao, Dong Xinran, Liao Yunfei, Chen Tong, Wang Huixian, He Chen, Lu Yilei, Zheng Chenxin, Zhou Yufeng, Qian Liling

Abstract excerpt

Biallelic isoleucyl-tRNA synthetase 1 (IARS1) variants are associated with an IARS1-related phenotype characterized by growth retardation, intellectual disability, muscular hypotonia, infantile hepatopathy, and interstitial lung disease. This rare, early-onset disorder is often lethal. Although several variants have been identified in recent years, their pathogenicity and underlying molecular mechanisms remain...

Read the complete abstract on PubMed

Topics

Animals
Macrophages, Alveolar
Pulmonary Surfactants
Mice
Homeostasis
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Male

Pulmonary Alveolar Proteinosis

Mice, Inbred C57BL

Source

Open in PubMed Open full text

Identifiers

PMID: 42380998
DOI: 10.1186/s12931-026-03792-2
PMCID: PMC13584253

Genes

IARS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Isoleucyl-tRNA synthetase 1 mutation impairs pulmonary surfactant homeostasis by disrupting alveolar macrophage function.PMID 42380998Read ↗

Linking childhood interstitial lung disease to IARS-related disorder: clinical and preliminary functional studies in four new cases.Semantic proximity Read ↗

Molecular and Pathological Analyses of IARS1-Deficient Mice: An IARS Disorder Model.Semantic proximity Read ↗

Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.Semantic proximity Read ↗

Compound heterozygous variations in IARS1 cause recurrent liver failure and growth retardation in a Chinese patient: a case report.Semantic proximity Read ↗

Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.Semantic proximity Read ↗

AARS2 R199C mutation induces lactylation-driven premature ovarian insufficiency phenotypes partially reversible by SIRT3.Semantic proximity Read ↗

A disease-causing isoleucyl-tRNA synthetase variant leads to altered protein complex formation and cellular stress response.Semantic proximity Read ↗

FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!Semantic proximity Read ↗

Case Report: Pseudomonas liver abscess in a previously healthy child with homozygous pathogenic S allele variant of the SERPINA1 gene.Semantic proximity Read ↗

Deficient Import of Acetyl-CoA into the ER Lumen Causes Neurodegeneration and Propensity to Infections, Inflammation, and CancerSemantic proximity Read ↗

Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.Semantic proximity Read ↗

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.