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@ARTICLE{Kopajtich:137692,
      author       = {Kopajtich, Robert and Nicholls, Thomas J and Rorbach,
                      Joanna and Metodiev, Metodi D and Freisinger, Peter and
                      Mandel, Hanna and Vanlander, Arnaud and Ghezzi, Daniele and
                      Carrozzo, Rosalba and Taylor, Robert W and Marquard, Klaus
                      and Murayama, Kei and Wieland, Thomas and Schwarzmayr,
                      Thomas and Mayr, Johannes A and Pearce, Sarah F and Powell,
                      Christopher A and Saada, Ann and Ohtake, Akira and
                      Invernizzi, Federica and Lamantea, Eleonora and Sommerville,
                      Ewen W and Pyle, Angela and Chinnery, Patrick F and
                      Crushell, Ellen and Okazaki, Yasushi and Kohda, Masakazu and
                      Kishita, Yoshihito and Tokuzawa, Yoshimi and Assouline,
                      Zahra and Rio, Marlène and Feillet, François and Mousson
                      de Camaret, Bénédict and Chretien, Dominique and Munnich,
                      Arnold and Menten, Björn and Sante, Tom and Smet, Joél and
                      Régal, Luc and Lorber, Abraham and Khoury, Asaad and
                      Zeviani, Massimo and Strom, Tim M and Meitinger, Thomas and
                      Bertini, Enrico S and Van Coster, Rudy and Klopstock, Thomas
                      and Rötig, Agnès and Haack, Tobias B and Minczuk, Michal
                      and Prokisch, Holger},
      title        = {{M}utations in {GTPBP}3 cause a mitochondrial translation
                      defect associated with hypertrophic cardiomyopathy, lactic
                      acidosis, and encephalopathy.},
      journal      = {The American journal of human genetics},
      volume       = {95},
      number       = {6},
      issn         = {0002-9297},
      address      = {New York, NY},
      publisher    = {Elsevier},
      reportid     = {DZNE-2020-04014},
      pages        = {708-720},
      year         = {2014},
      abstract     = {Respiratory chain deficiencies exhibit a wide variety of
                      clinical phenotypes resulting from defective mitochondrial
                      energy production through oxidative phosphorylation. These
                      defects can be caused by either mutations in the mtDNA or
                      mutations in nuclear genes coding for mitochondrial
                      proteins. The underlying pathomechanisms can affect numerous
                      pathways involved in mitochondrial physiology. By
                      whole-exome and candidate gene sequencing, we identified 11
                      individuals from 9 families carrying compound heterozygous
                      or homozygous mutations in GTPBP3, encoding the
                      mitochondrial GTP-binding protein 3. Affected individuals
                      from eight out of nine families presented with combined
                      respiratory chain complex deficiencies in skeletal muscle.
                      Mutations in GTPBP3 are associated with a severe
                      mitochondrial translation defect, consistent with the
                      predicted function of the protein in catalyzing the
                      formation of 5-taurinomethyluridine (τm(5)U) in the
                      anticodon wobble position of five mitochondrial tRNAs. All
                      case subjects presented with lactic acidosis and nine
                      developed hypertrophic cardiomyopathy. In contrast to
                      individuals with mutations in MTO1, the protein product of
                      which is predicted to participate in the generation of the
                      same modification, most individuals with GTPBP3 mutations
                      developed neurological symptoms and MRI involvement of
                      thalamus, putamen, and brainstem resembling Leigh syndrome.
                      Our study of a mitochondrial translation disorder points
                      toward the importance of posttranscriptional modification of
                      mitochondrial tRNAs for proper mitochondrial function.},
      keywords     = {Acidosis, Lactic: genetics / Acidosis, Lactic:
                      physiopathology / Amino Acid Sequence / Brain: pathology /
                      Brain Diseases: genetics / Brain Diseases: physiopathology /
                      Cardiomyopathy, Hypertrophic: genetics / Cardiomyopathy,
                      Hypertrophic: physiopathology / Cell Line / Child / Child,
                      Preschool / Consanguinity / Female / Fibroblasts /
                      GTP-Binding Proteins: genetics / GTP-Binding Proteins:
                      metabolism / Humans / Infant / Infant, Newborn / Male /
                      Molecular Sequence Data / Mutation / Pedigree / Protein
                      Biosynthesis / Protein Processing, Post-Translational / RNA
                      Interference / RNA, Transfer: genetics / RNA, Transfer:
                      metabolism / Sequence Alignment / RNA, Transfer (NLM
                      Chemicals) / GTP-Binding Proteins (NLM Chemicals) / GTPBP3
                      protein, human (NLM Chemicals)},
      cin          = {AG Levin},
      ddc          = {570},
      cid          = {I:(DE-2719)1111016},
      pnm          = {344 - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:25434004},
      pmc          = {pmc:PMC4259976},
      doi          = {10.1016/j.ajhg.2014.10.017},
      url          = {https://pub.dzne.de/record/137692},
}