Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.
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Robert W. Taylor | M. Minczuk | E. Bertini | T. Wieland | A. Munnich | T. Meitinger | T. Strom | Y. Okazaki | R. Carrozzo | M. Zeviani | B. Menten | H. Prokisch | H. Mandel | T. Schwarzmayr | A. Rötig | P. Chinnery | E. Lamantea | T. Haack | Ann Saada | A. Vanlander | Y. Kishita | A. Ohtake | K. Murayama | J. Rorbach | T. Klopstock | D. Ghezzi | B. Mousson de Camaret | E. Crushell | Y. Tokuzawa | M. Rio | M. Kohda | Z. Assouline | D. Chrétien | F. Invernizzi | J. Mayr | R. Kopajtich | P. Freisinger | Sarah F Pearce | Metodi D Metodiev | Christopher A. Powell | A. Khoury | A. Lorber | K. Marquard | E. Sommerville | A. Pyle | R. Van Coster | Metodi D. Metodiev | T. Nicholls | J. Smet | F. Feillet | T. Sante | L. Régal | Yoshimi Tokuzawa | Robert W. Taylor | Yoshihito Kishita | Masakazu Kohda | Zahra Assouline
[1] Beril Talim,et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. , 2014, JAMA.
[2] Robert W. Taylor,et al. Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA , 2014, PLoS genetics.
[3] Tsutomu Suzuki,et al. A complete landscape of post-transcriptional modifications in mammalian mitochondrial tRNAs , 2014, Nucleic acids research.
[4] R. Horvath,et al. Newcastle University Eprints Date Deposited: 11 Mitochondria: Impaired Mitochondrial Translation in Human Disease , 2022 .
[5] Robert W. Taylor,et al. MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast , 2013, Human mutation.
[6] Robert W. Taylor,et al. ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. , 2013, American journal of human genetics.
[7] V. Mootha,et al. Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease , 2013, Nature Genetics.
[8] T. Meitinger,et al. Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. , 2012, American journal of human genetics.
[9] V. Tiranti,et al. Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells , 2012, Mitochondrion.
[10] T. Meitinger,et al. Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency. , 2011, Molecular genetics and metabolism.
[11] Robert W Taylor,et al. Mitochondrial tRNA mutations and disease , 2010, Wiley interdisciplinary reviews. RNA.
[12] M. Guan,et al. Combination of the loss of cmnm5U34 with the lack of s2U34 modifications of tRNALys, tRNAGlu, and tRNAGln altered mitochondrial biogenesis and respiration. , 2010, Journal of molecular biology.
[13] H. Mandel,et al. Acute infantile liver failure due to mutations in the TRMU gene. , 2009, American journal of human genetics.
[14] M. Elstner,et al. The mitochondrial proteome database: MitoP2. , 2009, Methods in enzymology.
[15] M. Elstner,et al. The mitochondrial proteome database: MitoP2. , 2009, Methods in enzymology.
[16] V. Víctor,et al. Characterization of Human GTPBP3, a GTP-Binding Protein Involved in Mitochondrial tRNA Modification , 2008, Molecular and Cellular Biology.
[17] A. Byström,et al. A conserved modified wobble nucleoside (mcm5s2U) in lysyl-tRNA is required for viability in yeast. , 2007, RNA.
[18] Tsutomu Suzuki. Biosynthesis and function of tRNA wobble modifications , 2005 .
[19] D. Wallace,et al. Selective killing of cells with oxidative defects in galactose medium: A screening test for affected patient fibroblasts , 1992, Journal of Inherited Metabolic Disease.
[20] Paul F Agris,et al. The role of modifications in codon discrimination by tRNALysUUU , 2004, Nature Structural &Molecular Biology.
[21] Y. Bykhovskaya,et al. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). , 2004, American journal of human genetics.
[22] Tsutomu Suzuki,et al. Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases , 2002, The EMBO journal.
[23] Xiaoming Li,et al. A Human Mitochondrial GTP Binding Protein Related to tRNA Modification May Modulate Phenotypic Expression of the Deafness-Associated Mitochondrial 12S rRNA Mutation , 2002, Molecular and Cellular Biology.
[24] Xinhua Lin,et al. Isolation and Characterization of the Putative Nuclear Modifier Gene MTO1 Involved in the Pathogenesis of Deafness-associated Mitochondrial 12 S rRNA A1555G Mutation* , 2002, The Journal of Biological Chemistry.
[25] 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.
[26] B. K. Davis. Evolution of the genetic code. , 1999, Progress in biophysics and molecular biology.
[27] G. Colby,et al. MTO1 Codes for a Mitochondrial Protein Required for Respiration in Paromomycin-resistant Mutants of Saccharomyces cerevisiae* , 1998, The Journal of Biological Chemistry.
[28] T. Bourgeron,et al. Biochemical and molecular investigations in respiratory chain deficiencies. , 1994, Clinica chimica acta; international journal of clinical chemistry.
[29] D. Wallace,et al. Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts. , 1992, Biochemical medicine and metabolic biology.
[30] T. Bourgeron,et al. Assessment of the mitochondrial respiratory chain , 1991, The Lancet.
[31] S. Yokoyama,et al. Molecular mechanism of codon recognition by tRNA species with modified uridine in the first position of the anticodon. , 1985, Proceedings of the National Academy of Sciences of the United States of America.