Associated Papers
Cytopenia, Hypocellular Bone Marrow, and Shortened Telomere Length Beyond Biallelic Telomere Biology Gene Mutations.
Franco G et al.
Pediatric Blood & Cancer, 2026
Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping.
Villafan-Bernal JR et al.
Current Issues in Molecular Biology, 2026
First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.
Villafán-Bernal JR et al.
International Journal of Molecular Sciences, 2025
Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature.
Ferrera G et al.
Frontiers in Pediatrics, 2025
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples
Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.
Carreño-Gago L et al.
Journal of Clinical Medicine, 2021
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S et al.
International Journal of Molecular Sciences, 2021
33926074 (PubMed )
Supplement: ijms-22-04524-s001.zip › Supplementary_table_1.pdf
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
Riley LG et al.
Haematologica, 2018
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW et al.
Jama Neurology, 2017
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
Ardissone A et al.
Jimd Reports, 2015
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