ArticleNature communications2018
Pathogenic variants in glutamyl-tRNA
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Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed
2.3field-weighted citation impact, top 11% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
32 citing papers in PubMed, 53 citations in OpenAlex.
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- Clinically Relevant Mutations of Mycobacterial GatCAB Inform Regulation of Translational Fidelity.mBio · 2021Article
- Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.Molecular genetics and metabolism · 2021Article
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- Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.International journal of molecular sciences · 2021Review
- Mitochondrial Syndromes Revisited.Journal of clinical medicine · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
53 authors at 18 institutions in 8 countries.
Marisa W FriederichSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA.
Sharita TimalRadboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Christopher A PowellMedical Research Council, Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 OXY, United Kingdom.
Cristina DallabonaDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, 43124, Italy.
Alina KurolapThe Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel.ORCID http://orcid.org/0000-0002-7005-3621
Sara Palacios-ZambranoDepartamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" UAM-CSIC and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER). Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, 28029, Spain.
Drago BratkovicSA Pathology, Women and Children's Hospital Adelaide, Adelaide, 5006, Australia.
Terry G J DerksDivision of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, The Netherlands.
David BickHudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Katelijne BoumanDepartment of Genetics, University Medical Center of Groningen, University of Groningen, Groningen, 9700 RB, The Netherlands.
Kathryn C ChatfieldDepartment of Pediatrics, Section of Pediatric Cardiology, Children's Hospital Colorado, University of Colorado, Aurora, CO, 80045, USA.
Nadine Damouny-NaoumThe Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel.
Megan K DishopDepartment of Pathology, Children's Hospital Colorado, University of Colorado, Aurora, 80045, CO, USA.
Tzipora C Falik-ZaccaiInstitute of Human Genetics, Galilee Medical Center, Nahariya, 22100, Israel.
Fuad FaresDepartment of Human Biology, Faculty of Natural Sciences, University of Haifa, Haifa, 3498838, Israel.
Ayalla FedidaInstitute of Human Genetics, Galilee Medical Center, Nahariya, 22100, Israel.
Ileana FerreroDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, 43124, Italy.
Renata C GallagherSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA.
Rafael GaresseDepartamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" UAM-CSIC and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER). Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, 28029, Spain.
Micol GilbertiDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, 43124, Italy.
Cristina GonzálezDepartamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" UAM-CSIC and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER). Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, 28029, Spain.
Katherine GowanDepartment of Biochemistry and Molecular Genetics, University of Colorado, Aurora, CO, 80045, USA.
Clair HabibDepartment of Pediatrics, Bnai Zion Medical Center, Haifa, 3339419, Israel.
Rebecca K HalliganSA Pathology, Women and Children's Hospital Adelaide, Adelaide, 5006, Australia.
Limor KalfonInstitute of Human Genetics, Galilee Medical Center, Nahariya, 22100, Israel.
Kaz KnightSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA.
Dirk LefeberDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Laura MamblonaDepartamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" UAM-CSIC and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER). Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, 28029, Spain.
Hanna MandelThe Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, 3109601, Israel.
Adi MoryThe Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel.
John OttosonSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA.
Tamar PapernaThe Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel.
Ger J M PruijnDepartment of Biomolecular Chemistry, Institute for Molecules and Materials, Radboud University, Nijmegen, 6500 HB, The Netherlands.
Pedro F Rebelo-GuiomarMedical Research Council, Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 OXY, United Kingdom.
Ann SaadaMonique and Jacques Roboh Department of Genetic Research and the Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, 91120, Israel.
Bruno SainzDepartamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" UAM-CSIC and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER). Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, 28029, Spain.ORCID http://orcid.org/0000-0003-4829-7651
Hayley SalveminiSA Pathology, Women and Children's Hospital Adelaide, Adelaide, 5006, Australia.
Mirthe H SchootsDepartment of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, 9700 RB, Groningen, The Netherlands.
Jan A SmeitinkRadboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.ORCID http://orcid.org/0000-0003-1392-8038
Maciej J SzuksztoMedical Research Council, Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 OXY, United Kingdom.ORCID http://orcid.org/0000-0002-0463-652X
Hendrik J Ter HorstDivision of Neonatology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, The Netherlands.
Frans van den BrandtRadboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Francjan J van SpronsenDivision of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, The Netherlands.
Joris A VeltmanDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Eric WartchowDepartment of Pathology, Children's Hospital Colorado, University of Colorado, Aurora, 80045, CO, USA.
Liesbeth T WintjesRadboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Yaniv ZoharInstitute of Pathology, Rambam Health Care Campus, 3109601, Haifa, Israel.
Miguel A Fernández-MorenoDepartamento de Bioquímica, Instituto de Investigaciones Biomédicas "Alberto Sols" UAM-CSIC and Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER). Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, 28029, Spain.
Hagit N BarisThe Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel.
Claudia DonniniDepartment of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, 43124, Italy.
Michal MinczukMedical Research Council, Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 OXY, United Kingdom.
Richard J RodenburgRadboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.ORCID http://orcid.org/0000-0001-5227-3527
Johan L K Van HoveSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA. Johan.Vanhove@ucdenver.edu.
Radboud University Nijmegen · NLUniversity of Colorado Anschutz Medical Campus · USRambam Health Care Campus · ILResearch Institute Hospital 12 de Octubre · ESUniversity Medical Center Groningen · NLUniversity of Parma · ITChildren's Hospital Colorado · USSouth Australia Pathology · AUUniversity of Cambridge · GBBar-Ilan University · ILTechnion – Israel Institute of Technology · ILBnai Zion Medical Center · ILHadassah Medical Center · ILHudsonAlpha Institute for Biotechnology · USInstituto de Investigaciones Biomédicas Sols-Morreale · ESUniversidade do Porto · PTUniversity of Haifa · ILWestern Galilee Hospital · IL
Funding
Fondazione Telethon (Telethon Foundation) GGP15041Medical Research Council MC_UU_00015/4Medical Research Council (MRC) MC_U105697135Medical Research Council (MRC) MC_UU_00015/4
Abstract
Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNA
Indexed as
Amino Acid SequenceCardiomyopathiesFemaleFibroblastsHumansInfantInfant, NewbornLentivirusMaleMitochondrial DiseasesModels, MolecularMutationMyocardiumNitrogenous Group TransferasesOxidative PhosphorylationPedigreeglutamyl-tRNA(Gln) amidotransferaseNitrogenous Group TransferasesProtein SubunitsRNA, Transfer
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LicenceCC BY
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.