Associated Papers
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
Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.
Eisenkölbl A et al.
Journal of Neuromuscular Diseases, 2025
A kinetic model for compound heterozygous pathogenic variants in Tyrosyl-tRNA synthetase gene YARS2-Associated neonatal phenotype.
Christian T et al.
The Journal of Biological Chemistry, 2025
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
Levy MA et al.
Hgg Advances, 2022
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
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
A Drosophila model for mito-nuclear diseases generated by an incompatible interaction between tRNA and tRNA synthetase.
Holmbeck MA et al.
Disease Models & Mechanisms, 2015
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature.
Ardissone A et al.
Jimd Reports, 2015
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.
Datt M et al.
Bmc Genomics, 2014
A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
Nakajima J et al.
Journal of Human Genetics, 2014
Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases.
Schwenzer H et al.
Topics in Current Chemistry, 2014
Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
Riley LG et al.
Orphanet Journal of Rare Diseases, 2013
A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.
Shahni R et al.
American Journal of Medical Genetics. Part A, 2013
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.
Glamuzina E et al.
Journal of Inherited Metabolic Disease, 2012
Human diseases with impaired mitochondrial protein synthesis.
Rötig A
Biochimica Et Biophysica Acta, 2011
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.
Riley LG et al.
American Journal of Human Genetics, 2010