Associated Papers
Assessment the Efficacy of the CRISPR System for Inducing Mutations in the AIMP2 Gene to Create a Cell Line Model of HLD17 Disease.
Farrokhi S et al.
Molecular Biotechnology, 2025
An extensive in silico analysis of missense mutations of the human AIMP2 gene.
Farrokhi S et al.
Heliyon, 2024
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
Knockdown of Golgi Stress-Responsive Caspase-2 Ameliorates HLD17-Associated AIMP2 Mutant-Mediated Inhibition of Oligodendroglial Cell Morphological Differentiation.
Ochiai A et al.
Neurochemical Research, 2022
Case Report: Mutation in AIMP2/P38, the Scaffold for the Multi-Trna Synthetase Complex, and Association With Progressive Neurodevelopmental Disorders.
Mazaheri M et al.
Frontiers in Genetics, 2022
Roles of aminoacyl-tRNA synthetase-interacting multi-functional proteins in physiology and cancer.
Zhou Z et al.
Cell Death & Disease, 2020
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.
Accogli A et al.
Journal of Child Neurology, 2019
Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis.
Shukla A et al.
Journal of Human Genetics, 2018
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