LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

[1]  Erin K. Kennedy,et al.  Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). , 2014, Blood.

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

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

[4]  J. Christodoulou,et al.  Mitochondrial respiratory chain disorders in childhood: insights into diagnosis and management in the new era of genomic medicine. , 2014, Biochimica et biophysica acta.

[5]  J. Mariani,et al.  Changes in the Distribution of the α3 Na+/K+ ATPase Subunit in Heterozygous Lurcher Purkinje Cells as a Genetic Model of Chronic Depolarization during Development , 2014, International journal of cell biology.

[6]  V. Tiranti,et al.  The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes , 2014, International journal of cell biology.

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

[8]  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.

[9]  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.

[10]  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.

[11]  H. Tyynismaa,et al.  Mitochondrial aminoacyl-tRNA synthetases in human disease. , 2013, Molecular genetics and metabolism.

[12]  M. Keogh,et al.  Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation. , 2013, Brain : a journal of neurology.

[13]  S. Martinis,et al.  Structural dynamics of the aminoacylation and proof-reading functional cycle of bacterial leucyl-tRNA synthetase , 2012, Nature Structural &Molecular Biology.

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

[15]  S. Martinis,et al.  Yeast Mitochondrial Leucyl-tRNA Synthetase CP1 Domain Has Functionally Diverged to Accommodate RNA Splicing at Expense of Hydrolytic Editing* , 2012, The Journal of Biological Chemistry.

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

[17]  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.

[18]  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.

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

[20]  Robert W. Taylor,et al.  Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. , 2006, Human reproduction.

[21]  S. Kelley,et al.  An aminoacyl-tRNA synthetase with a defunct editing site. , 2005, Biochemistry.

[22]  E. Wang,et al.  Human mitochondrial leucyl-tRNA synthetase with high activity produced from Escherichia coli. , 2003, Protein expression and purification.

[23]  C. Florentz,et al.  Towards understanding human mitochondrial leucine aminoacylation identity. , 2003, Journal of molecular biology.

[24]  S. Martinis,et al.  A conserved threonine within Escherichia coli leucyl-tRNA synthetase prevents hydrolytic editing of leucyl-tRNALeu. , 2001, Biochemistry.

[25]  R Giegé,et al.  An operational RNA code for amino acids and possible relationship to genetic code. , 1993, Proceedings of the National Academy of Sciences of the United States of America.

[26]  Richard Giegé,et al.  Relaxation of a transfer RNA specificity by removal of modified nucleotides , 1990, Nature.

[27]  R. Starzyk,et al.  Evidence for dispensable sequences inserted into a nucleotide fold. , 1987, Science.

[28]  Ann E. Frazier,et al.  Biochemical analyses of the electron transport chain complexes by spectrophotometry. , 2012, Methods in molecular biology.

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

[30]  E. Wang,et al.  E292 Is Important for the Aminoacylation Activity of Escherichia coli Leucyl-tRNA Synthetase , 2003, Journal of protein chemistry.