Mitochondrial tRNA mutations and disease
暂无分享,去创建一个
Robert W Taylor | Robert W. Taylor | J. Elson | John W Yarham | R. Mcfarland | Robert McFarland | Joanna L Elson | Emma L Blakely | E. Blakely | J. W. Yarham | Robert W. Taylor
[1] R. Wiesner,et al. A new mechanism for mtDNA pathogenesis: impairment of post-transcriptional maturation leads to severe depletion of mitochondrial tRNASer(UCN) caused by T7512C and G7497A point mutations , 2005, Nucleic acids research.
[2] K. Majamaa,et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. , 1998, American journal of human genetics.
[3] F. Crick. Codon--anticodon pairing: the wobble hypothesis. , 1966, Journal of molecular biology.
[4] A. Harding,et al. The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA. , 1993, Brain : a journal of neurology.
[5] E. Schon,et al. In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes , 1995, Molecular and cellular biology.
[6] Tsutomu Suzuki,et al. Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNALys with the MERRF encephalomyopathy pathogenic mutation , 2000, FEBS letters.
[7] Tsutomu Suzuki,et al. [Wobble modification defect suppresses translational activity of tRNAs with MERRF and MELAS mutations]. , 2002, Nihon rinsho. Japanese journal of clinical medicine.
[8] N. Howell,et al. Molecular clock debate: Time dependency of molecular rate estimates for mtDNA: this is not the time for wishful thinking , 2008, Heredity.
[9] Y. Goto,et al. Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders. , 2009, Mitochondrion.
[10] V. Carelli,et al. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. , 2003, Trends in Genetics.
[11] P. Mitchell,et al. Population prevalence of the MELAS A3243G mutation. , 2007, Mitochondrion.
[12] E. Robin,et al. Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells , 1988, Journal of cellular physiology.
[13] M. Carrozzi,et al. Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy. , 2009, Mitochondrion.
[14] P. Chinnery,et al. Pathogenic Mitochondrial DNA Mutations Are Common in the General Population , 2008, American journal of human genetics.
[15] D. Wallace,et al. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation , 1990, Cell.
[16] A. T. Bankier,et al. A different genetic code in human mitochondria , 1979, Nature.
[17] F. Sanger,et al. Sequence and organization of the human mitochondrial genome , 1981, Nature.
[18] J. Hopfield,et al. Experimental evidence for kinetic proofreading in the aminoacylation of tRNA by synthetase. , 1977, Proceedings of the National Academy of Sciences of the United States of America.
[19] G. Pruijn,et al. Functional consequences of mitochondrial tRNATrp and tRNAArg mutations causing combined OXPHOS defects , 2010, European Journal of Human Genetics.
[20] Robert W. Taylor,et al. A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. , 2009, Archives of neurology.
[21] D. Turnbull,et al. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. , 1997, Brain : a journal of neurology.
[22] Takehiro Yasukawa,et al. Modification Defect at Anticodon Wobble Nucleotide of Mitochondrial tRNAsLeu(UUR) with Pathogenic Mutations of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes* , 2000, The Journal of Biological Chemistry.
[23] M. Stoneking,et al. Mitochondrial DNA and human evolution , 1987, Nature.
[24] J. Chen,et al. Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss. , 2008, Mitochondrion.
[25] C. Florentz,et al. Towards understanding human mitochondrial leucine aminoacylation identity. , 2003, Journal of molecular biology.
[26] David C Samuels,et al. A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes , 2008, Nature Genetics.
[27] D. Turnbull,et al. Pathogenic mitochondrial tRNA mutations – Which mutations are inherited and why? , 2009, Human mutation.
[28] R Giegé,et al. Search for characteristic structural features of mammalian mitochondrial tRNAs. , 2000, RNA.
[29] D. Wallace. Mitochondrial diseases in man and mouse. , 1999, Science.
[30] M. Bolotin-Fukuhara,et al. Yeast as a model of human mitochondrial tRNA base substitutions: investigation of the molecular basis of respiratory defects. , 2007, RNA.
[31] R. H.J.MULLE. THE RELATION OF RECOMBINATION TO MUTATIONAL ADVANCE , 2002 .
[32] S. Dimauro,et al. Mitochondrial myopathy associated with a novel mutation in mtDNA , 2007, Neuromuscular Disorders.
[33] Douglass M. Turnbull,et al. Does the mitochondrial genome play a role in the etiology of Alzheimer’s disease? , 2006, Human Genetics.
[34] D. Turnbull,et al. Annotation: Mitochondrial genotype and clinical phenotype , 1998, Journal of Inherited Metabolic Disease.
[35] Robert W. Taylor,et al. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. , 2003, Journal of the American College of Cardiology.
[36] B. Van Houten,et al. Mitochondrial DNA repair and aging. , 2002, Mutation research.
[37] I. Nonaka,et al. Myoclonus epilepsy associated with ragged‐red fibers: A G‐to‐A mutation at nucleotide pair 8363 in mitochondrial tRNALys in two families , 1997, Muscle & nerve.
[38] E. Shoubridge,et al. Aerobic conditioning in patients with mitochondrial myopathies: Physiological, biochemical, and genetic effects , 2001, Annals of neurology.
[39] M. Costanzo,et al. Analysis and manipulation of yeast mitochondrial genes. , 1991, Methods in enzymology.
[40] M. King,et al. Post-transcriptional regulation of the steady-state levels of mitochondrial tRNAs in HeLa cells. , 1993, The Journal of biological chemistry.
[41] C. Florentz,et al. Effect of a mutation in the anticodon of human mitochondrial tRNAPro on its post-transcriptional modification pattern. , 1998, Nucleic acids research.
[42] J. Enríquez,et al. The Deafness-Associated Mitochondrial DNA Mutation at Position 7445, Which Affects tRNASer(UCN) Precursor Processing, Has Long-Range Effects on NADH Dehydrogenase Subunit ND6 Gene Expression , 1998, Molecular and Cellular Biology.
[43] R. Wiesner,et al. Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia. , 2008, Bioscience reports.
[44] Takahiko Hara,et al. The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells , 2007, Nature Genetics.
[45] R Giegé,et al. Universal rules and idiosyncratic features in tRNA identity. , 1998, Nucleic acids research.
[46] M. Lehtonen,et al. Phylogenetic network for European mtDNA. , 2001, American journal of human genetics.
[47] M. Vannan,et al. A Mouse Model of Mitochondrial Disease Reveals Germline Selection Against Severe mtDNA Mutations , 2008, Science.
[48] T Yasukawa,et al. Wobble modification defect in tRNA disturbs codon–anticodon interaction in a mitochondrial disease , 2001, The EMBO journal.
[49] E. Schon,et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus , 2002, Nature Genetics.
[50] William M. Mauck,et al. Heterologous mitochondrial DNA recombination in human cells. , 2004, Human molecular genetics.
[51] I. Tarassov,et al. tRNA mitochondrial import in yeast: Mapping of the import determinants in the carrier protein, the precursor of mitochondrial lysyl-tRNA synthetase. , 2010, Mitochondrion.
[52] S. Pääbo,et al. Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. , 2000, Human molecular genetics.
[53] R. Lightowlers,et al. Hungry Codons Promote Frameshifting in Human Mitochondrial Ribosomes , 2010, Science.
[54] C. Pinkert,et al. Mitochondria transfer into mouse ova by microinjection , 1997, Transgenic Research.
[55] D. Wallace,et al. Transfer of chloramphenicol‐resistant mitochondrial DNA into the chimeric mouse , 1999, Transgenic Research.
[56] Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis. , 2007, American journal of human genetics.
[57] E. Shoubridge,et al. Sidestepping Mutational Meltdown , 2008, Science.
[58] Tsutomu Suzuki,et al. Acquisition of the wobble modification in mitochondrial tRNALeu(CUN) bearing the G12300A mutation suppresses the MELAS molecular defect. , 2006, Human molecular genetics.
[59] M. King,et al. Overexpressed mitochondrial leucyl-tRNA synthetase suppresses the A3243G mutation in the mitochondrial tRNA(Leu(UUR)) gene. , 2008, RNA.
[60] L. Spremulli,et al. Interaction of mitochondrial initiation factor 2 with mitochondrial fMet-tRNA. , 2004, Nucleic acids research.
[61] D. Turnbull,et al. Comparative genomics and the evolution of human mitochondrial DNA: assessing the effects of selection. , 2004, American journal of human genetics.
[62] N. Larsson,et al. Molecular genetic aspects of human mitochondrial disorders. , 1995, Annual review of genetics.
[63] S. Finnilä,et al. Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes. , 2004, Pediatrics.
[64] S. Dimauro,et al. A mitochondrial tRNA anticodon swap associated with a muscle disease , 1993, Nature Genetics.
[65] Y. Mechulam,et al. Recognition of tRNAs by Methionyl-tRNA Transformylase from Mammalian Mitochondria* , 2001, The Journal of Biological Chemistry.
[66] Robert W. Taylor,et al. Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease. , 2006, Archives of neurology.
[67] M. Bolotin-Fukuhara,et al. Mutations in yeast mt tRNAs: specific and general suppression by nuclear encoded tRNA interactors. , 2006, Gene.
[68] D. Turnbull,et al. MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. , 1998, Brain : a journal of neurology.
[69] P. Sanaker,et al. A novel mutation in the mitochondrial tRNA for tryptophan causing a late‐onset mitochondrial encephalomyopathy , 2010, Acta neurologica Scandinavica.
[70] M. Ibba,et al. Loss of Editing Activity during the Evolution of Mitochondrial Phenylalanyl-tRNA Synthetase* , 2005, Journal of Biological Chemistry.
[71] P. Froguel,et al. Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA Leu(UUR) gene , 1994, Diabetes.
[72] D. Turnbull,et al. Pure myopathy associated with a novel mitochondrial tRNA gene mutation , 2006, Neurology.
[73] Robert W. Taylor,et al. Mitochondrial DNA mutations in human disease , 2005, Nature Reviews Genetics.
[74] K. Lawson,et al. How is the mouse germ-cell lineage established? , 2005, Differentiation; research in biological diversity.
[75] I. Nonaka,et al. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies , 1990, Nature.
[76] M. Gambello,et al. Exercise intolerance associated with a novel 8300t>C mutation in mitochondrial transfer RNAlys , 2006, Muscle & nerve.
[77] C. Gissi,et al. Nucleotide Substitution Rate of Mammalian Mitochondrial Genomes , 1999, Journal of Molecular Evolution.
[78] F. Sanger,et al. Different pattern of codon recognition by mammalian mitochondrial tRNAs. , 1980, Proceedings of the National Academy of Sciences of the United States of America.
[79] Richard Giegé,et al. The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA. , 1998, Nucleic acids research.
[80] Stamatina Giannouli,et al. Mitochondrial tRNA Mutations: Clinical and Functional Perturbations , 2007, RNA biology.
[81] S. Kelley,et al. Dimerization of a pathogenic human mitochondrial tRNA , 2002, Nature Structural Biology.
[82] Robert W. Taylor,et al. Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation , 2002, Nature Genetics.
[83] S. Pääbo,et al. Mitochondrial genome variation and the origin of modern humans , 2000, Nature.
[84] S. Kelley,et al. An aminoacyl-tRNA synthetase with a defunct editing site. , 2005, Biochemistry.
[85] E. Shoubridge,et al. The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2. , 2008, Human molecular genetics.
[86] Y. Bykhovskaya,et al. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. , 1998, American journal of medical genetics.
[87] Joern Pütz,et al. Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures. , 2007, RNA.
[88] S. Dimauro,et al. A functionally dominant mitochondrial DNA mutation. , 2008, Human molecular genetics.
[89] International Human Genome Sequencing Consortium. Initial sequencing and analysis of the human genome , 2001, Nature.
[90] S. Martinis,et al. A Viable Amino Acid Editing Activity in the Leucyl-tRNA Synthetase CP1-splicing Domain Is Not Required in the Yeast Mitochondria* , 2006, Journal of Biological Chemistry.
[91] M. King,et al. Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. , 1989, Science.
[92] E. Shoubridge,et al. Gene shifting: a novel therapy for mitochondrial myopathy. , 1999, Human molecular genetics.
[93] Robert W. Taylor,et al. Prevalence of mitochondrial DNA disease in adults , 2008, Annals of neurology.
[94] E. Schon,et al. Modulation of mitochondrial protein phosphorylation by soluble adenylyl cyclase ameliorates cytochrome oxidase defects , 2009, EMBO molecular medicine.
[95] M. Deutscher,et al. Reactions at the 3' terminus of transfer ribonucleic acid. V. Subcellular localization and evidence for a mitochondrial transfer ribonucleic acid nucleotidyltransferase. , 1972, The Journal of biological chemistry.
[96] Shamkant B. Navathe,et al. MITOMAP: an update on the status of the human mitochondrial genome database , 1997, Nucleic Acids Res..
[97] N. Bresolin,et al. In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. , 1991, Molecular and cellular biology.
[98] E. Shoubridge,et al. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA , 1996, Nature Genetics.
[99] S. Manam,et al. Separation and characterization of 5'- and 3'-tRNA processing nucleases from rat liver mitochondria. , 1987, The Journal of biological chemistry.
[100] Jiong Cai,et al. Mitochondrial tRNASer(UCN) gene is the hot spot for mutations associated with aminoglycoside-induced and non-syndromic hearing loss. , 2007, Biochemical and biophysical research communications.
[101] D. Dressman,et al. Heteroplasmic mitochondrial DNA mutations in normal and tumor cells , 2010, Nature.
[102] G. Cortopassi,et al. Mitochondrial defects and hearing loss , 2000, Cellular and Molecular Life Sciences CMLS.
[103] K Watanabe,et al. Mammalian Mitochondrial Methionyl-tRNA Transformylase from Bovine Liver , 1998, The Journal of Biological Chemistry.
[104] Robert W. Taylor,et al. Overexpression of human mitochondrial valyl tRNA synthetase can partially restore levels of cognate mt-tRNAVal carrying the pathogenic C25U mutation , 2008, Nucleic acids research.
[105] Takashi Ohtsuki,et al. A unique serine-specific elongation factor Tu found in nematode mitochondria , 2003, Nature Structural Biology.
[106] E. Schon,et al. Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy , 2002, Annals of neurology.
[107] E. Shoubridge,et al. The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes , 2008, Nature Genetics.
[108] B. Spiegelman,et al. Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype. , 2008, Cell metabolism.
[109] A. Tessa,et al. Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy. , 2007, Biochemical and biophysical research communications.
[110] N. Pace,et al. Ribonuclease P: unity and diversity in a tRNA processing ribozyme. , 1998, Annual review of biochemistry.
[111] A. Pandya,et al. Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. , 1999, American journal of human genetics.
[112] J. Elson,et al. Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA , 2008, PLoS biology.
[113] Robert W. Taylor,et al. Assigning pathogenicity to mitochondrial tRNA mutations: when "definitely maybe" is not good enough. , 2004, Trends in genetics : TIG.
[114] Y. Mechulam,et al. Aminoacyl-tRNA Synthetases: Occurrence, Structure, and Function , 1995 .
[115] C. Florentz,et al. Human mitochondrial tRNAs in health and disease , 2003, Cellular and Molecular Life Sciences CMLS.
[116] S Thirup,et al. The crystal structure of Cys-tRNACys-EF-Tu-GDPNP reveals general and specific features in the ternary complex and in tRNA. , 1999, Structure.
[117] D. Turnbull,et al. Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. , 1997, Trends in genetics : TIG.
[118] D. Gatti,et al. Mitochondrial aminoacyl-tRNA synthetases. , 1990, Progress in nucleic acid research and molecular biology.
[119] Laura C. Greaves,et al. Mitochondrial DNA mutations in human disease , 2006, IUBMB life.
[120] M. Bolotin-Fukuhara,et al. Reintroduction of a characterized Mit tRNA glycine mutation into yeast mitochondria provides a new tool for the study of human neurodegenerative diseases , 2001, Yeast.
[121] M. Bolotin-Fukuhara,et al. The yeast counterparts of human ‘MELAS’ mutations cause mitochondrial dysfunction that can be rescued by overexpression of the mitochondrial translation factor EF‐Tu , 2003, EMBO reports.
[122] Alfredo Coppa,et al. The Role of Selection in the Evolution of Human Mitochondrial Genomes , 2006, Genetics.
[123] E. Schon,et al. Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. , 1992, Molecular and cellular biology.
[124] H. Yonekawa,et al. New Evidence Confirms That the Mitochondrial Bottleneck Is Generated without Reduction of Mitochondrial DNA Content in Early Primordial Germ Cells of Mice , 2009, PLoS genetics.
[125] M. Neiman,et al. The causes of mutation accumulation in mitochondrial genomes , 2009, Proceedings of the Royal Society B: Biological Sciences.
[126] M. Bolotin-Fukuhara,et al. Can yeast be used to study mitochondrial diseases? Biolistic tRNA mutants for the analysis of mechanisms and suppressors. , 2009, Mitochondrion.
[127] W. Hauswirth,et al. Mitochondrial DNA polymorphism in a maternal lineage of Holstein cows. , 1982, Proceedings of the National Academy of Sciences of the United States of America.
[128] E. Schon,et al. Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS. , 1993, Nucleic acids research.
[129] N. Martin. Organellar tRNAs: Biosynthesis and Function , 1995 .
[130] J. Enríquez,et al. MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination , 1995, Nature Genetics.
[131] T. Fox,et al. Suppression of mutations in mitochondrial DNA by tRNAs imported from the cytoplasm. , 2000, Science.
[132] Robert W. Taylor,et al. Sporadic myopathy and exercise intolerance associated with the mitochondrial 8328G>A tRNALys mutation , 2007, Journal of Neurology.
[133] T. Kunkel,et al. Fidelity of mammalian DNA polymerases. , 1981, Science.
[134] Julio Montoya,et al. tRNA punctuation model of RNA processing in human mitochondria , 1981, Nature.
[135] C O Lovejoy. Models of human evolution. , 1982, Science.
[136] M. Zeviani,et al. Mitochondrial disorders. , 2004, Brain : a journal of neurology.
[137] P. Chinnery,et al. Is selection required for the accumulation of somatic mitochondrial DNA mutations in post-mitotic cells? , 2006, Neuromuscular Disorders.
[138] J. Hayashi,et al. [Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes]. , 2001, Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme.
[139] J. Taanman,et al. The mitochondrial genome: structure, transcription, translation and replication. , 1999, Biochimica et biophysica acta.
[140] S. Seneca,et al. Two novel mitochondrial DNA mutations in muscle tissue of a patient with limb-girdle myopathy. , 2007, Archives of neurology.
[141] J. Elson,et al. Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease , 2008, Nature Reviews Genetics.
[142] S. Martinis,et al. CP1-dependent partitioning of pretransfer and posttransfer editing in leucyl-tRNA synthetase , 2008, Proceedings of the National Academy of Sciences.
[143] I. Nonaka,et al. MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. , 1992, Proceedings of the National Academy of Sciences of the United States of America.
[144] H. Jacobs,et al. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness , 1994, Human mutation.