The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

[1]  L. Arenillas,et al.  The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 , 2018, Haematologica.

[2]  Robert W. Taylor,et al.  Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy , 2017, JAMA neurology.

[3]  S. Oprescu,et al.  Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. , 2017, Methods.

[4]  L. Maquat,et al.  Leveraging Rules of Nonsense-Mediated mRNA Decay for Genome Engineering and Personalized Medicine , 2016, Cell.

[5]  J. Qu,et al.  The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation. , 2016, Human molecular genetics.

[6]  S. Duga,et al.  First Independent Replication of the Involvement of LARS2 in Perrault Syndrome by Whole-Exome Sequencing of an Italian Family , 2015, Journal of Human Genetics.

[7]  James Y. Zou.  Analysis of protein-coding genetic variation in 60,706 humans , 2015, Nature.

[8]  M. Zeviani,et al.  A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature. , 2015, JIMD reports.

[9]  M. Fleming,et al.  Sideroblastic anemia: diagnosis and management. , 2014, Hematology/oncology clinics of North America.

[10]  A. Vanderver,et al.  Novel (ovario) leukodystrophy related to AARS2 mutations , 2014, Neurology.

[11]  N. Matsumoto,et al.  A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2 , 2014, Journal of Human Genetics.

[12]  Yang Zhang,et al.  The I-TASSER Suite: protein structure and function prediction , 2014, Nature Methods.

[13]  J. Christodoulou,et al.  Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia , 2013, Orphanet Journal of Rare Diseases.

[14]  S. Rahman,et al.  A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations , 2013, American journal of medical genetics. Part A.

[15]  I. Adzhubei,et al.  Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2 , 2013, Current protocols in human genetics.

[16]  E. Shoubridge,et al.  A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia , 2012, Human mutation.

[17]  Jing Hu,et al.  SIFT web server: predicting effects of amino acid substitutions on proteins , 2012, Nucleic Acids Res..

[18]  M. Fleming.  Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation. , 2011, Hematology. American Society of Hematology. Education Program.

[19]  S. Sugano,et al.  Frequent pathway mutations of splicing machinery in myelodysplasia , 2011, Nature.

[20]  A. Lambowitz,et al.  NMR Structure of the C-terminal domain of a tyrosyl-tRNA synthetase that functions in group I intron splicing. , 2011, Biochemistry.

[21]  T. Walsh,et al.  Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome , 2011, Proceedings of the National Academy of Sciences.

[22]  Nicole Rusk.  Torrents of sequence , 2011, Nature Methods.

[23]  R. Giegé,et al.  Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. , 2010, American journal of human genetics.

[24]  E. Neufeld,et al.  Systematic molecular genetic analysis of congenital sideroblastic anemia: Evidence for genetic heterogeneity and identification of novel mutations , 2010, Pediatric blood & cancer.

[25]  B. Lorber,et al.  Crystal structure of human mitochondrial tyrosyl-tRNA synthetase reveals common and idiosyncratic features. , 2007, Structure.

[26]  D. Lev,et al.  Mitochondrial Myopathy, Sideroblastic Anemia, and Lactic Acidosis: An Autosomal Recessive Syndrome in Persian Jews Caused by a Mutation in the PUS1 Gene , 2005, Journal of child neurology.

[27]  C. Florentz,et al.  Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. , 2005, Biochemistry.

[28]  Y. Bykhovskaya,et al.  Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). , 2004, American journal of human genetics.

[29]  G. Cartwright,et al.  Sideroblasts, siderocytes, and sideroblastic anemia. , 1975, The New England journal of medicine.