Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia

[1]  Gastone Castellani,et al.  HAPLOFIND: A New Method for High‐Throughput mtDNA Haplogroup Assignment , 2013, Human mutation.

[2]  T. Walsh,et al.  Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. , 2013, American journal of human genetics.

[3]  P. Altevogt,et al.  Vesiclepedia: A Compendium for Extracellular Vesicles with Continuous Community Annotation , 2012, PLoS biology.

[4]  A. Paetau,et al.  Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. , 2012, Human molecular genetics.

[5]  J. Kolesar,et al.  Mitochondrial transcription factor A regulates mitochondrial transcription initiation, DNA packaging, and genome copy number. , 2012, Biochimica et biophysica acta.

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

[7]  E. Ruiz-Pesini,et al.  Oxidative phosphorylation differences between mitochondrial DNA haplogroups modify the risk of Leber's hereditary optic neuropathy. , 2012, Biochimica et biophysica acta.

[8]  E. Bertini,et al.  Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations. , 2012, Brain : a journal of neurology.

[9]  Jean-Pierre Bouchard,et al.  Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans , 2012, PLoS biology.

[10]  A. Rötig Human diseases with impaired mitochondrial protein synthesis. , 2011, Biochimica et biophysica acta.

[11]  R. Scarpulla,et al.  Metabolic control of mitochondrial biogenesis through the PGC-1 family regulatory network. , 2011, Biochimica et biophysica acta.

[12]  Matej Oresic,et al.  Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. , 2011, American journal of human genetics.

[13]  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.

[14]  R. Belostotsky,et al.  Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome. , 2011, American journal of human genetics.

[15]  C. Florentz,et al.  A human pathology-related mutation prevents import of an aminoacyl-tRNA synthetase into mitochondria. , 2011, The Biochemical journal.

[16]  J. Enríquez,et al.  Tissue-specific differences in mitochondrial activity and biogenesis. , 2011, Mitochondrion.

[17]  E. Ruiz-Pesini,et al.  Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. , 2010, Human molecular genetics.

[18]  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.

[19]  A. Rötig Genetic bases of mitochondrial respiratory chain disorders. , 2010, Diabetes & metabolism.

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

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

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

[23]  J. Gomori,et al.  Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. , 2007, American journal of human genetics.

[24]  V. Álvarez,et al.  Mitochondrial haplogroup T is negatively associated with the status of elite endurance athlete. , 2007, Mitochondrion.

[25]  Michael T Ryan,et al.  Mitochondrial-nuclear communications. , 2007, Annual review of biochemistry.

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

[27]  Robert W. Taylor,et al.  Biochemical assays of respiratory chain complex activity. , 2007, Methods in cell biology.

[28]  D. A. Clayton,et al.  Initiation and beyond: multiple functions of the human mitochondrial transcription machinery. , 2006, Molecular cell.

[29]  V. Álvarez,et al.  Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy. , 2006, International journal of cardiology.

[30]  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.

[31]  E. Amiott,et al.  Mitochondrial transcription is regulated via an ATP "sensing" mechanism that couples RNA abundance to respiration. , 2006, Molecular cell.

[32]  L. Wong,et al.  Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease. , 2005, The Journal of molecular diagnostics : JMD.

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

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

[35]  K. Casas,et al.  Mitochondrial myopathy and sideroblastic anemia , 2004, American journal of medical genetics. Part A.

[36]  D. Hood,et al.  Origins and consequences of mitochondrial variation in vertebrate muscle. , 2003, Annual review of physiology.

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

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