Last Updated: 09/26/2026
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Found 31 publications
Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1-Related Autosomal Recessive Disorder Associated With Usher-Like Symptoms.
Journal: American journal of medical genetics. Part A
Published: January 02, 2026
Therapeutic rescue of pathogenic asparaginyl-tRNA synthetase alleles.
Journal: Molecular therapy. Nucleic acids
Published: November 21, 2025
Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot-Marie-Tooth disease.
Journal: NAR molecular medicine
Published: September 13, 2025
Aminoacyl-tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies.
Journal: Journal of inherited metabolic disease
Published: July 22, 2025
Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiency.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 27, 2025
Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells.
Journal: The Journal of biological chemistry
Published: May 09, 2025
Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype.
Journal: JIMD reports
Published: January 24, 2025
Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype.
Journal: Molecular genetics & genomic medicine
Published: October 12, 2024
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MS.
Journal: Nucleic acids research
Published: June 10, 2024
Isoleucine-to-valine substitutions support cellular physiology during isoleucine deprivation.
Journal: Nucleic acids research
Published: September 15, 2022
Correspondence on "Expanded phenotype of AARS1-related white matter disease" by Helman et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 21, 2021
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.
Journal: Human mutation
Published: June 03, 2021
Last Updated: 09/26/2026