Associated Papers
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.
Ratnaike TE et al.
European Journal of Human Genetics : Ejhg, 2025
Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.
Lee GY et al.
Kidney International Reports, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
PCBP1 regulates alternative splicing of AARS2 in congenital cardiomyopathy.
Lu YW et al.
Biorxiv : the Preprint Server for Biology, 2023
Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report.
Kazakova E et al.
Frontiers in Neurology, 2023
Mitochondrial Cardiomyopathy: Molecular Epidemiology, Diagnosis, Models, and Therapeutic Management.
Yang J et al.
Cells, 2022
Novel mitochondrial alanyl-tRNA synthetase 2 (AARS2) heterozygous mutations in a Chinese patient with adult-onset leukoencephalopathy.
Fan Y et al.
Bmc Neurology, 2022
The emerging neurological spectrum of AARS2-associated disorders.
Parra SP et al.
Parkinsonism & Related Disorders, 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Forny P et al.
Neurology. Genetics, 2021
Generation of three human induced pluripotent stem cell lines, LUMCi024-A, LUMCi025-A, and LUMCi026-A, from two patients with combined oxidative phosphorylation deficiency 8 and a related control.
van Helden RWJ et al.
Stem Cell Research, 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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Recessive Inheritance of a Rare Variant in the Nuclear Mitochondrial Gene for AARS2 in Late-Onset Dilated Cardiomyopathy.
Nielsen SK et al.
Circulation. Genomic and Precision Medicine, 2020
A homozygous mutation of alanyl-transfer RNA synthetase 2 in a patient of adult-onset leukodystrophy: A case report and literature review.
Wang JY et al.
Brain and Behavior, 2019
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum.
Kiraly-Borri C et al.
Cold Spring Harbor Molecular Case Studies, 2019
The G3-U70-independent tRNA recognition by human mitochondrial alanyl-tRNA synthetase.
Zeng QY et al.
Nucleic Acids Research, 2019
AARS2 leukoencephalopathy: A new variant of mitochondrial encephalomyopathy.
Tang Y et al.
Molecular Genetics & Genomic Medicine, 2019
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Sommerville EW et al.
Human Molecular Genetics, 2019
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
Kamps R et al.
European Journal of Human Genetics : Ejhg, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Mazurova S et al.
Cardiology in the Young, 2017
Novel AARS2 gene mutation producing leukodystrophy: a case report.
Szpisjak L et al.
Journal of Human Genetics, 2017
The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.
Hamatani M et al.
Journal of Human Genetics, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
Euro L et al.
Frontiers in Genetics, 2015
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.
Datt M et al.
Bmc Genomics, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
Novel (ovario) leukodystrophy related to AARS2 mutations.
Dallabona C et al.
Neurology, 2014
Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases.
Schwenzer H et al.
Topics in Current Chemistry, 2014
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
Diodato D et al.
International Journal of Cell Biology, 2014
Mitochondrial aminoacyl-tRNA synthetases in human disease.
Konovalova S et al.
Molecular Genetics and Metabolism, 2013
Next-generation sequencing to identify genetic causes of cardiomyopathies.
Norton N et al.
Current Opinion in Cardiology, 2012
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE et al.
Science Translational Medicine, 2012
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Götz A et al.
American Journal of Human Genetics, 2011
Adult-onset leukodystrophy with homozygous AARS2 mutation located in the aminoacylation domain.
Uzun GA
Neurology India, 0