Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

PLoS Genetics

Volumn 10, Issue 6, 2014, Pages

  Yarham, John W ^a   Lamichhane, Tek N ^b   Pyle, Angela ^a   Mattijssen, Sandy ^b   Baruffini, Enrico ^c   Bruni, Francesco ^a   Donnini, Claudia ^c   Vassilev, Alex ^b   He, Langping ^a   Blakely, Emma L ^a   Griffin, Helen ^a   Santibanez Koref, Mauro ^a   Bindoff, Laurence A ^d,e   Ferrero, Ileana ^c   Chinnery, Patrick F ^a   McFarland, Robert ^a   Maraia, Richard J ^b   Taylor, Robert W ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^c UNIVERSITY OF PARMA   (Italy)

^d HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^e UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

6 N (3,3 DIMETHYLALLYL)ADENOSINE; MITOCHONDRIAL DNA; MITOCHONDRIAL PROTEIN; MUTANT PROTEIN; TRANSFER RNA; ADENYLATE ISOPENTENYLTRANSFERASE; CYTOCHROME C OXIDASE; ISOPENTENYL-ADENOSINE I6A THIOTRANSFERASE; RNA; RNA, MITOCHONDRIAL; SCHIZOSACCHAROMYCES POMBE PROTEIN; SULFURTRANSFERASE; TRANSFERASE; TRIT1 PROTEIN, HUMAN; TRNA ISOPENTENYLTRANSFERASE;

ANTICODON; ARTICLE; BASAL METABOLIC RATE; CASE REPORT; CELL RESPIRATION; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME MODIFICATION; EXOME; FIBROBLAST; GENE; GENE ACTIVITY; GENE INACTIVATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOBLOTTING; MISSENSE MUTATION; MITOCHONDRIAL DNA DISORDER; MITOCHONDRION; MUSCLE BIOPSY; MYOCLONUS EPILEPSY; NONHUMAN; OXIDATIVE PHOSPHORYLATION; POINT MUTATION; PROTEIN SYNTHESIS; SACCHAROMYCES CEREVISIAE; SCHIZOSACCHAROMYCES POMBE; SEQUENCE ANALYSIS; TRIT1 GENE; WILD TYPE; YEAST; CELL CULTURE; CYTOCHROME C OXIDASE DEFICIENCY; CYTOSOL; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRON TRANSPORT; ENZYMOLOGY; FEMALE; GENETICS; MALE; SCHIZOSACCHAROMYCES;

ALKYL AND ARYL TRANSFERASES; CELLS, CULTURED; CYTOCHROME-C OXIDASE DEFICIENCY; CYTOSOL; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; PROTEIN BIOSYNTHESIS; RNA; RNA, TRANSFER; SACCHAROMYCES CEREVISIAE; SCHIZOSACCHAROMYCES; SCHIZOSACCHAROMYCES POMBE PROTEINS; SULFURTRANSFERASES;

EID: 84903449243     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1004424     Document Type: Article

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