Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

[1]  P. Schrauwen,et al.  Regulation of mitochondrial biogenesis during myogenesis , 2010, Molecular and Cellular Endocrinology.

[2]  M. Bahlo,et al.  Generating linkage mapping files from Affymetrix SNP chip data , 2009, Bioinform..

[3]  Henri Grosjean,et al.  DNA and RNA Modification Enzymes: Structure, Mechanism, Function and Evolution , 2009 .

[4]  V. Tiranti,et al.  Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA) , 2009, BMJ Case Reports.

[5]  E. Bonilla,et al.  Light microscopic methods to visualize mitochondria on tissue sections. , 2008, Methods.

[6]  Peter F. Stadler,et al.  tRNAdb 2009: compilation of tRNA sequences and tRNA genes , 2008, Nucleic Acids Res..

[7]  E. Green,et al.  The role of aminoacyl-tRNA synthetases in genetic diseases. , 2008, Annual review of genomics and human genetics.

[8]  Sunghoon Kim,et al.  Aminoacyl tRNA synthetases and their connections to disease , 2008, Proceedings of the National Academy of Sciences.

[9]  S. Carr,et al.  A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology , 2008, Cell.

[10]  M. Koenig Presentation and diagnosis of mitochondrial disorders in children. , 2008, Pediatric neurology.

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

[12]  Y. Bykhovskaya,et al.  Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA). , 2007, Molecular genetics and metabolism.

[13]  E. Kizana,et al.  Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis , 2007, Neuromuscular Disorders.

[14]  E. Shoubridge,et al.  The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. , 2006, Human molecular genetics.

[15]  G. Abecasis,et al.  Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers. , 2005, American journal of human genetics.

[16]  Cristina Bertolotto,et al.  Mitochondrial Myopathy and Sideroblastic Anemia (MLASA) , 2005, Journal of Biological Chemistry.

[17]  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.

[18]  Peter J. Nürnberg,et al.  HaploPainter: a tool for drawing pedigrees with complex haplotypes , 2005, Bioinform..

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

[20]  M. Daly,et al.  Haploview: analysis and visualization of LD and haplotype maps , 2005, Bioinform..

[21]  K. Taylor,et al.  Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33 , 2004, American journal of medical genetics. Part A.

[22]  Marjan S. Bolouri,et al.  Integrated Analysis of Protein Composition, Tissue Diversity, and Gene Regulation in Mouse Mitochondria , 2003, Cell.

[23]  D. Thorburn,et al.  Minimum birth prevalence of mitochondrial respiratory chain disorders in children. , 2003, Brain : a journal of neurology.

[24]  S. Dimauro,et al.  Mitochondrial respiratory-chain diseases. , 2003, The New England journal of medicine.

[25]  S. Cusack,et al.  Class I tyrosyl‐tRNA synthetase has a class II mode of cognate tRNA recognition , 2002, The EMBO journal.

[26]  D. Thorburn,et al.  Practical problems in detecting abnormal mitochondrial function and genomes. , 2000, Human reproduction.

[27]  R. Giegé,et al.  Identity of tRNA for yeast tyrosyl-tRNA synthetase: tyrosylation is more sensitive to identity nucleotides than to structural features. , 2000, Biochemistry.

[28]  M. Lazarou,et al.  Chapter 18 Analysis of respiratory chain complex assembly with radiolabeled nuclear- and mitochondrial-encoded subunits. , 2009, Methods in enzymology.

[29]  V. Tiranti,et al.  Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects. , 2009, Biochimica et biophysica acta.