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| Home > Publications Database > Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. > print |
| Home > Publications Database > Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. > print |
| 001 | 137692 | ||
| 005 | 20240321220309.0 | ||
| 024 | 7 | _ | |a 10.1016/j.ajhg.2014.10.017 |2 doi |
| 024 | 7 | _ | |a pmid:25434004 |2 pmid |
| 024 | 7 | _ | |a pmc:PMC4259976 |2 pmc |
| 024 | 7 | _ | |a 0002-9297 |2 ISSN |
| 024 | 7 | _ | |a 1537-6605 |2 ISSN |
| 024 | 7 | _ | |a altmetric:2927230 |2 altmetric |
| 037 | _ | _ | |a DZNE-2020-04014 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 570 |
| 100 | 1 | _ | |a Kopajtich, Robert |0 P:(DE-HGF)0 |b 0 |
| 245 | _ | _ | |a Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. |
| 260 | _ | _ | |a New York, NY |c 2014 |b Elsevier |
| 264 | _ | 1 | |3 print |2 Crossref |b Elsevier BV |c 2014-12-01 |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1710759773_18973 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a 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. |
| 536 | _ | _ | |a 344 - Clinical and Health Care Research (POF3-344) |0 G:(DE-HGF)POF3-344 |c POF3-344 |f POF III |x 0 |
| 542 | _ | _ | |i 2014-12-01 |2 Crossref |u https://www.elsevier.com/tdm/userlicense/1.0/ |
| 542 | _ | _ | |i 2014-11-17 |2 Crossref |u http://creativecommons.org/licenses/by/3.0/ |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, |
| 650 | _ | 7 | |a RNA, Transfer |0 9014-25-9 |2 NLM Chemicals |
| 650 | _ | 7 | |a GTP-Binding Proteins |0 EC 3.6.1.- |2 NLM Chemicals |
| 650 | _ | 7 | |a GTPBP3 protein, human |0 EC 3.6.1.- |2 NLM Chemicals |
| 650 | _ | 2 | |a Acidosis, Lactic: genetics |2 MeSH |
| 650 | _ | 2 | |a Acidosis, Lactic: physiopathology |2 MeSH |
| 650 | _ | 2 | |a Amino Acid Sequence |2 MeSH |
| 650 | _ | 2 | |a Brain: pathology |2 MeSH |
| 650 | _ | 2 | |a Brain Diseases: genetics |2 MeSH |
| 650 | _ | 2 | |a Brain Diseases: physiopathology |2 MeSH |
| 650 | _ | 2 | |a Cardiomyopathy, Hypertrophic: genetics |2 MeSH |
| 650 | _ | 2 | |a Cardiomyopathy, Hypertrophic: physiopathology |2 MeSH |
| 650 | _ | 2 | |a Cell Line |2 MeSH |
| 650 | _ | 2 | |a Child |2 MeSH |
| 650 | _ | 2 | |a Child, Preschool |2 MeSH |
| 650 | _ | 2 | |a Consanguinity |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Fibroblasts |2 MeSH |
| 650 | _ | 2 | |a GTP-Binding Proteins: genetics |2 MeSH |
| 650 | _ | 2 | |a GTP-Binding Proteins: metabolism |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Infant |2 MeSH |
| 650 | _ | 2 | |a Infant, Newborn |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Molecular Sequence Data |2 MeSH |
| 650 | _ | 2 | |a Mutation |2 MeSH |
| 650 | _ | 2 | |a Pedigree |2 MeSH |
| 650 | _ | 2 | |a Protein Biosynthesis |2 MeSH |
| 650 | _ | 2 | |a Protein Processing, Post-Translational |2 MeSH |
| 650 | _ | 2 | |a RNA Interference |2 MeSH |
| 650 | _ | 2 | |a RNA, Transfer: genetics |2 MeSH |
| 650 | _ | 2 | |a RNA, Transfer: metabolism |2 MeSH |
| 650 | _ | 2 | |a Sequence Alignment |2 MeSH |
| 700 | 1 | _ | |a Nicholls, Thomas J |0 P:(DE-HGF)0 |b 1 |
| 700 | 1 | _ | |a Rorbach, Joanna |0 P:(DE-HGF)0 |b 2 |
| 700 | 1 | _ | |a Metodiev, Metodi D |0 P:(DE-HGF)0 |b 3 |
| 700 | 1 | _ | |a Freisinger, Peter |0 P:(DE-HGF)0 |b 4 |
| 700 | 1 | _ | |a Mandel, Hanna |0 P:(DE-HGF)0 |b 5 |
| 700 | 1 | _ | |a Vanlander, Arnaud |0 P:(DE-HGF)0 |b 6 |
| 700 | 1 | _ | |a Ghezzi, Daniele |0 P:(DE-HGF)0 |b 7 |
| 700 | 1 | _ | |a Carrozzo, Rosalba |0 P:(DE-HGF)0 |b 8 |
| 700 | 1 | _ | |a Taylor, Robert W |0 P:(DE-HGF)0 |b 9 |
| 700 | 1 | _ | |a Marquard, Klaus |0 P:(DE-HGF)0 |b 10 |
| 700 | 1 | _ | |a Murayama, Kei |0 P:(DE-HGF)0 |b 11 |
| 700 | 1 | _ | |a Wieland, Thomas |0 P:(DE-HGF)0 |b 12 |
| 700 | 1 | _ | |a Schwarzmayr, Thomas |0 P:(DE-HGF)0 |b 13 |
| 700 | 1 | _ | |a Mayr, Johannes A |0 P:(DE-HGF)0 |b 14 |
| 700 | 1 | _ | |a Pearce, Sarah F |0 P:(DE-HGF)0 |b 15 |
| 700 | 1 | _ | |a Powell, Christopher A |0 P:(DE-HGF)0 |b 16 |
| 700 | 1 | _ | |a Saada, Ann |0 P:(DE-HGF)0 |b 17 |
| 700 | 1 | _ | |a Ohtake, Akira |0 P:(DE-HGF)0 |b 18 |
| 700 | 1 | _ | |a Invernizzi, Federica |0 P:(DE-HGF)0 |b 19 |
| 700 | 1 | _ | |a Lamantea, Eleonora |0 P:(DE-HGF)0 |b 20 |
| 700 | 1 | _ | |a Sommerville, Ewen W |0 P:(DE-HGF)0 |b 21 |
| 700 | 1 | _ | |a Pyle, Angela |0 P:(DE-HGF)0 |b 22 |
| 700 | 1 | _ | |a Chinnery, Patrick F |0 P:(DE-HGF)0 |b 23 |
| 700 | 1 | _ | |a Crushell, Ellen |0 P:(DE-HGF)0 |b 24 |
| 700 | 1 | _ | |a Okazaki, Yasushi |0 P:(DE-HGF)0 |b 25 |
| 700 | 1 | _ | |a Kohda, Masakazu |0 P:(DE-HGF)0 |b 26 |
| 700 | 1 | _ | |a Kishita, Yoshihito |0 P:(DE-HGF)0 |b 27 |
| 700 | 1 | _ | |a Tokuzawa, Yoshimi |0 P:(DE-HGF)0 |b 28 |
| 700 | 1 | _ | |a Assouline, Zahra |0 P:(DE-HGF)0 |b 29 |
| 700 | 1 | _ | |a Rio, Marlène |0 P:(DE-HGF)0 |b 30 |
| 700 | 1 | _ | |a Feillet, François |0 P:(DE-HGF)0 |b 31 |
| 700 | 1 | _ | |a Mousson de Camaret, Bénédict |0 P:(DE-HGF)0 |b 32 |
| 700 | 1 | _ | |a Chretien, Dominique |0 P:(DE-HGF)0 |b 33 |
| 700 | 1 | _ | |a Munnich, Arnold |0 P:(DE-HGF)0 |b 34 |
| 700 | 1 | _ | |a Menten, Björn |0 P:(DE-HGF)0 |b 35 |
| 700 | 1 | _ | |a Sante, Tom |0 P:(DE-HGF)0 |b 36 |
| 700 | 1 | _ | |a Smet, Joél |0 P:(DE-HGF)0 |b 37 |
| 700 | 1 | _ | |a Régal, Luc |0 P:(DE-HGF)0 |b 38 |
| 700 | 1 | _ | |a Lorber, Abraham |0 P:(DE-HGF)0 |b 39 |
| 700 | 1 | _ | |a Khoury, Asaad |0 P:(DE-HGF)0 |b 40 |
| 700 | 1 | _ | |a Zeviani, Massimo |0 P:(DE-HGF)0 |b 41 |
| 700 | 1 | _ | |a Strom, Tim M |0 P:(DE-HGF)0 |b 42 |
| 700 | 1 | _ | |a Meitinger, Thomas |0 P:(DE-2719)9000207 |b 43 |u dzne |
| 700 | 1 | _ | |a Bertini, Enrico S |0 P:(DE-HGF)0 |b 44 |
| 700 | 1 | _ | |a Van Coster, Rudy |0 P:(DE-HGF)0 |b 45 |
| 700 | 1 | _ | |a Klopstock, Thomas |0 P:(DE-2719)2810704 |b 46 |u dzne |
| 700 | 1 | _ | |a Rötig, Agnès |0 P:(DE-HGF)0 |b 47 |
| 700 | 1 | _ | |a Haack, Tobias B |0 P:(DE-HGF)0 |b 48 |
| 700 | 1 | _ | |a Minczuk, Michal |0 P:(DE-HGF)0 |b 49 |e Corresponding author |
| 700 | 1 | _ | |a Prokisch, Holger |0 P:(DE-HGF)0 |b 50 |
| 773 | 1 | 8 | |a 10.1016/j.ajhg.2014.10.017 |b : Elsevier BV, 2014-12-01 |n 6 |p 708-720 |3 journal-article |2 Crossref |t The American Journal of Human Genetics |v 95 |y 2014 |x 0002-9297 |
| 773 | _ | _ | |a 10.1016/j.ajhg.2014.10.017 |g Vol. 95, no. 6, p. 708 - 720 |0 PERI:(DE-600)1473813-2 |n 6 |q 95:6<708 - 720 |p 708-720 |t The American journal of human genetics |v 95 |y 2014 |x 0002-9297 |
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| 856 | 7 | _ | |2 Pubmed Central |u http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259976 |
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