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000137692 0247_ $$2doi$$a10.1016/j.ajhg.2014.10.017
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000137692 0247_ $$2pmc$$apmc:PMC4259976
000137692 0247_ $$2ISSN$$a0002-9297
000137692 0247_ $$2ISSN$$a1537-6605
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000137692 037__ $$aDZNE-2020-04014
000137692 041__ $$aEnglish
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000137692 1001_ $$0P:(DE-HGF)0$$aKopajtich, Robert$$b0
000137692 245__ $$aMutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
000137692 260__ $$aNew York, NY$$bElsevier$$c2014
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000137692 520__ $$aRespiratory 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.
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000137692 542__ $$2Crossref$$i2014-12-01$$uhttps://www.elsevier.com/tdm/userlicense/1.0/
000137692 542__ $$2Crossref$$i2014-11-17$$uhttp://creativecommons.org/licenses/by/3.0/
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000137692 650_7 $$09014-25-9$$2NLM Chemicals$$aRNA, Transfer
000137692 650_7 $$0EC 3.6.1.-$$2NLM Chemicals$$aGTP-Binding Proteins
000137692 650_7 $$0EC 3.6.1.-$$2NLM Chemicals$$aGTPBP3 protein, human
000137692 650_2 $$2MeSH$$aAcidosis, Lactic: genetics
000137692 650_2 $$2MeSH$$aAcidosis, Lactic: physiopathology
000137692 650_2 $$2MeSH$$aAmino Acid Sequence
000137692 650_2 $$2MeSH$$aBrain: pathology
000137692 650_2 $$2MeSH$$aBrain Diseases: genetics
000137692 650_2 $$2MeSH$$aBrain Diseases: physiopathology
000137692 650_2 $$2MeSH$$aCardiomyopathy, Hypertrophic: genetics
000137692 650_2 $$2MeSH$$aCardiomyopathy, Hypertrophic: physiopathology
000137692 650_2 $$2MeSH$$aCell Line
000137692 650_2 $$2MeSH$$aChild
000137692 650_2 $$2MeSH$$aChild, Preschool
000137692 650_2 $$2MeSH$$aConsanguinity
000137692 650_2 $$2MeSH$$aFemale
000137692 650_2 $$2MeSH$$aFibroblasts
000137692 650_2 $$2MeSH$$aGTP-Binding Proteins: genetics
000137692 650_2 $$2MeSH$$aGTP-Binding Proteins: metabolism
000137692 650_2 $$2MeSH$$aHumans
000137692 650_2 $$2MeSH$$aInfant
000137692 650_2 $$2MeSH$$aInfant, Newborn
000137692 650_2 $$2MeSH$$aMale
000137692 650_2 $$2MeSH$$aMolecular Sequence Data
000137692 650_2 $$2MeSH$$aMutation
000137692 650_2 $$2MeSH$$aPedigree
000137692 650_2 $$2MeSH$$aProtein Biosynthesis
000137692 650_2 $$2MeSH$$aProtein Processing, Post-Translational
000137692 650_2 $$2MeSH$$aRNA Interference
000137692 650_2 $$2MeSH$$aRNA, Transfer: genetics
000137692 650_2 $$2MeSH$$aRNA, Transfer: metabolism
000137692 650_2 $$2MeSH$$aSequence Alignment
000137692 7001_ $$0P:(DE-HGF)0$$aNicholls, Thomas J$$b1
000137692 7001_ $$0P:(DE-HGF)0$$aRorbach, Joanna$$b2
000137692 7001_ $$0P:(DE-HGF)0$$aMetodiev, Metodi D$$b3
000137692 7001_ $$0P:(DE-HGF)0$$aFreisinger, Peter$$b4
000137692 7001_ $$0P:(DE-HGF)0$$aMandel, Hanna$$b5
000137692 7001_ $$0P:(DE-HGF)0$$aVanlander, Arnaud$$b6
000137692 7001_ $$0P:(DE-HGF)0$$aGhezzi, Daniele$$b7
000137692 7001_ $$0P:(DE-HGF)0$$aCarrozzo, Rosalba$$b8
000137692 7001_ $$0P:(DE-HGF)0$$aTaylor, Robert W$$b9
000137692 7001_ $$0P:(DE-HGF)0$$aMarquard, Klaus$$b10
000137692 7001_ $$0P:(DE-HGF)0$$aMurayama, Kei$$b11
000137692 7001_ $$0P:(DE-HGF)0$$aWieland, Thomas$$b12
000137692 7001_ $$0P:(DE-HGF)0$$aSchwarzmayr, Thomas$$b13
000137692 7001_ $$0P:(DE-HGF)0$$aMayr, Johannes A$$b14
000137692 7001_ $$0P:(DE-HGF)0$$aPearce, Sarah F$$b15
000137692 7001_ $$0P:(DE-HGF)0$$aPowell, Christopher A$$b16
000137692 7001_ $$0P:(DE-HGF)0$$aSaada, Ann$$b17
000137692 7001_ $$0P:(DE-HGF)0$$aOhtake, Akira$$b18
000137692 7001_ $$0P:(DE-HGF)0$$aInvernizzi, Federica$$b19
000137692 7001_ $$0P:(DE-HGF)0$$aLamantea, Eleonora$$b20
000137692 7001_ $$0P:(DE-HGF)0$$aSommerville, Ewen W$$b21
000137692 7001_ $$0P:(DE-HGF)0$$aPyle, Angela$$b22
000137692 7001_ $$0P:(DE-HGF)0$$aChinnery, Patrick F$$b23
000137692 7001_ $$0P:(DE-HGF)0$$aCrushell, Ellen$$b24
000137692 7001_ $$0P:(DE-HGF)0$$aOkazaki, Yasushi$$b25
000137692 7001_ $$0P:(DE-HGF)0$$aKohda, Masakazu$$b26
000137692 7001_ $$0P:(DE-HGF)0$$aKishita, Yoshihito$$b27
000137692 7001_ $$0P:(DE-HGF)0$$aTokuzawa, Yoshimi$$b28
000137692 7001_ $$0P:(DE-HGF)0$$aAssouline, Zahra$$b29
000137692 7001_ $$0P:(DE-HGF)0$$aRio, Marlène$$b30
000137692 7001_ $$0P:(DE-HGF)0$$aFeillet, François$$b31
000137692 7001_ $$0P:(DE-HGF)0$$aMousson de Camaret, Bénédict$$b32
000137692 7001_ $$0P:(DE-HGF)0$$aChretien, Dominique$$b33
000137692 7001_ $$0P:(DE-HGF)0$$aMunnich, Arnold$$b34
000137692 7001_ $$0P:(DE-HGF)0$$aMenten, Björn$$b35
000137692 7001_ $$0P:(DE-HGF)0$$aSante, Tom$$b36
000137692 7001_ $$0P:(DE-HGF)0$$aSmet, Joél$$b37
000137692 7001_ $$0P:(DE-HGF)0$$aRégal, Luc$$b38
000137692 7001_ $$0P:(DE-HGF)0$$aLorber, Abraham$$b39
000137692 7001_ $$0P:(DE-HGF)0$$aKhoury, Asaad$$b40
000137692 7001_ $$0P:(DE-HGF)0$$aZeviani, Massimo$$b41
000137692 7001_ $$0P:(DE-HGF)0$$aStrom, Tim M$$b42
000137692 7001_ $$0P:(DE-2719)9000207$$aMeitinger, Thomas$$b43$$udzne
000137692 7001_ $$0P:(DE-HGF)0$$aBertini, Enrico S$$b44
000137692 7001_ $$0P:(DE-HGF)0$$aVan Coster, Rudy$$b45
000137692 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b46$$udzne
000137692 7001_ $$0P:(DE-HGF)0$$aRötig, Agnès$$b47
000137692 7001_ $$0P:(DE-HGF)0$$aHaack, Tobias B$$b48
000137692 7001_ $$0P:(DE-HGF)0$$aMinczuk, Michal$$b49$$eCorresponding author
000137692 7001_ $$0P:(DE-HGF)0$$aProkisch, Holger$$b50
000137692 77318 $$2Crossref$$3journal-article$$a10.1016/j.ajhg.2014.10.017$$b : Elsevier BV, 2014-12-01$$n6$$p708-720$$tThe American Journal of Human Genetics$$v95$$x0002-9297$$y2014
000137692 773__ $$0PERI:(DE-600)1473813-2$$a10.1016/j.ajhg.2014.10.017$$gVol. 95, no. 6, p. 708 - 720$$n6$$p708-720$$q95:6<708 - 720$$tThe American journal of human genetics$$v95$$x0002-9297$$y2014
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