Recessive AARS1 variants perturb human and mouse development

Human Genetics and Genomics Advances 2026 Open access

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Authors: Jennifer L. Watts, Nicole Costantino, Ammar Husami, Thamara K. Dayarathna, Logan Willeke, Loren D.M. Peña, Elizabeth A. Ulm, Donald L. Gilbert, Rolf W. Stottmann
DOI: 10.1016/j.xhgg.2026.100565
Cited by: 0
References: 27

Abstract

heterozygous animals show reduced Purkinje cell immunoreactivity at 8 months of age but no gross morphological cerebellar phenotypes or impaired performance in a motor coordination assay. We conclude these are pathogenic alleles in AARS1 but lethality in mice preclude a detailed study of neural development.

Fields of Study & Subjects

RNA and protein synthesis mechanisms RNA modifications and cancer RNA Research and Splicing

Publication details

Journal / source
Human Genetics and Genomics Advances
Volume
7
Issue
2
Pages
100565–100565
Publication date
8 January 2026
Language
EN