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Wyświetlanie 1-13 z 13
Tytuł :
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder
Autorzy :
Kurolap, Alina
Sainz, Bruno
Smeitink, Jan A
Szukszto, Maciej J
Veltman, Joris A
Minczuk, Michal
Rodenburg, Richard J
Friederich, Marisa W
Timal, Sharita
Powell, Christopher A
Dallabona, Cristina
Palacios-Zambrano, Sara
Bratkovic, Drago
Derks, Terry GJ
Bick, David
Bouman, Katelijne
Chatfield, Kathryn C
Damouny-Naoum, Nadine
Dishop, Megan K
Falik-Zaccai, Tzipora C
Fares, Fuad
Fedida, Ayalla
Ferrero, Ileana
Gallagher, Renata C
Garesse, Rafael
Gilberti, Micol
González, Cristina
Gowan, Katherine
Habib, Clair
Halligan, Rebecca K
Kalfon, Limor
Knight, Kaz
Lefeber, Dirk
Mamblona, Laura
Mandel, Hanna
Mory, Adi
Ottoson, John
Paperna, Tamar
Pruijn, Ger JM
Rebelo-Guiomar, Pedro F
Saada, Ann
Salvemini, Hayley
Schoots, Mirthe H
Ter Horst, Hendrik J
Van Den Brandt, Frans
Van Spronsen, Francjan J
Wartchow, Eric
Wintjes, Liesbeth T
Zohar, Yaniv
Fernández-Moreno, Miguel A
Baris, Hagit N
Donnini, Claudia
Van Hove, Johan LK
Pokaż więcej
Temat :
Infant, Newborn
Myocardium
Infant
Glutamine
Saccharomyces cerevisiae
Models, Molecular
Fibroblasts
Mitochondrial Diseases
Amino Acid Sequence
DARS2
Female
Lentivirus
RNA, Transfer
Mitochondrial protein synthesis
Protein Subunits
Medicina
mt-tRNAs
Oxidative Phosphorylation
Article
Pedigree
Mutation
Nitrogenous Group Transferases
Protein Biosynthesis
Science
GatCAB
Humans
Cardiomyopathies
Male
Źródło :
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Opis pliku :
Electronic; application/pdf
Tytuł :
Pathogenic variants in glutamyl-tRNA amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
Autorzy :
Friederich MW; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA.
Timal S; Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Powell CA; Medical Research Council, Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 OXY, United Kingdom.
Dallabona C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, 43124, Italy.
Kurolap A; The Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, 3109601, Israel.
Palacios-Zambrano S; Departamento 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.; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, 28041, Spain.
Bratkovic D; SA Pathology, Women and Children's Hospital Adelaide, Adelaide, 5006, Australia.
Derks TGJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, The Netherlands.
Bick D; HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA.
Bouman K; Department of Genetics, University Medical Center of Groningen, University of Groningen, Groningen, 9700 RB, The Netherlands.
Chatfield KC; Department of Pediatrics, Section of Pediatric Cardiology, Children's Hospital Colorado, University of Colorado, Aurora, CO, 80045, USA.
Damouny-Naoum N; The Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel.; Department of Human Biology, Faculty of Natural Sciences, University of Haifa, Haifa, 3498838, Israel.
Dishop MK; Department of Pathology, Children's Hospital Colorado, University of Colorado, Aurora, 80045, CO, USA.
Falik-Zaccai TC; Institute of Human Genetics, Galilee Medical Center, Nahariya, 22100, Israel.; The Azrieli Faculty of Medicine in the Galilee, Bar Ilan University, Safed, 1311502, Israel.
Fares F; Department of Human Biology, Faculty of Natural Sciences, University of Haifa, Haifa, 3498838, Israel.
Fedida A; Institute of Human Genetics, Galilee Medical Center, Nahariya, 22100, Israel.; The Azrieli Faculty of Medicine in the Galilee, Bar Ilan University, Safed, 1311502, Israel.
Ferrero I; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, 43124, Italy.
Gallagher RC; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA.
Garesse R; Departamento 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.; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, 28041, Spain.
Gilberti M; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, 43124, Italy.
González C; Departamento 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.; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, 28041, Spain.
Gowan K; Department of Biochemistry and Molecular Genetics, University of Colorado, Aurora, CO, 80045, USA.
Habib C; Department of Pediatrics, Bnai Zion Medical Center, Haifa, 3339419, Israel.
Halligan RK; SA Pathology, Women and Children's Hospital Adelaide, Adelaide, 5006, Australia.
Kalfon L; Institute of Human Genetics, Galilee Medical Center, Nahariya, 22100, Israel.
Knight K; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA.
Lefeber D; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Mamblona L; Departamento 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.; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, 28041, Spain.
Mandel H; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, 3109601, Israel.; Institute of Human Genetics, Galilee Medical Center, Nahariya, 22100, Israel.; Metabolic Unit, Rambam Health Care Campus, Haifa, 3109601, Israel.
Mory A; The Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel.
Ottoson J; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA.
Paperna T; The Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel.
Pruijn GJM; Department of Biomolecular Chemistry, Institute for Molecules and Materials, Radboud University, Nijmegen, 6500 HB, The Netherlands.
Rebelo-Guiomar PF; Medical Research Council, Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 OXY, United Kingdom.; Graduate Program in Areas of Basic and Applied Biology (GABBA), University of Porto, Porto, 4200-135, Portugal.
Saada A; Monique and Jacques Roboh Department of Genetic Research and the Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, 91120, Israel.
Sainz B Jr; Departamento 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.; Enfermedades Crónicas y Cáncer Area, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, 28034, Spain.
Salvemini H; SA Pathology, Women and Children's Hospital Adelaide, Adelaide, 5006, Australia.
Schoots MH; Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen, 9700 RB, Groningen, The Netherlands.
Smeitink JA; Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Szukszto MJ; Medical Research Council, Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 OXY, United Kingdom.
Ter Horst HJ; Division of Neonatology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, The Netherlands.
van den Brandt F; Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
van Spronsen FJ; Division of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, The Netherlands.
Veltman JA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.; Institute of Genetic Medicine, Newcastle University, Newcastle, NE1 3BZ, United Kingdom.
Wartchow E; Department of Pathology, Children's Hospital Colorado, University of Colorado, Aurora, 80045, CO, USA.
Wintjes LT; Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Zohar Y; Institute of Pathology, Rambam Health Care Campus, 3109601, Haifa, Israel.
Fernández-Moreno MA; Departamento 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.; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, 28041, Spain.
Baris HN; The Genetics Institute, Rambam Health Care Campus, Haifa, 3109601, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, 3109601, Israel.
Donnini C; Department of Chemistry, Life Sciences and Environmental Sustainability, University of Parma, Parma, 43124, Italy.
Minczuk M; Medical Research Council, Mitochondrial Biology Unit, University of Cambridge, Cambridge, CB2 OXY, United Kingdom.
Rodenburg RJ; Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, 6500 HB, The Netherlands.
Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, 80045, CO, USA. .
Pokaż więcej
Źródło :
Nature communications [Nat Commun] 2018 Oct 03; Vol. 9 (1), pp. 4065. Date of Electronic Publication: 2018 Oct 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cardiomyopathies/*enzymology
Cardiomyopathies/*genetics
Mitochondrial Diseases/*enzymology
Mitochondrial Diseases/*genetics
Mutation/*genetics
Nitrogenous Group Transferases/*genetics
Protein Subunits/*genetics
Amino Acid Sequence ; Female ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Humans ; Infant ; Infant, Newborn ; Lentivirus/metabolism ; Male ; Models, Molecular ; Myocardium/pathology ; Myocardium/ultrastructure ; Nitrogenous Group Transferases/chemistry ; Nitrogenous Group Transferases/metabolism ; Oxidative Phosphorylation ; Pedigree ; Protein Biosynthesis ; Protein Subunits/chemistry ; Protein Subunits/metabolism ; RNA, Transfer/metabolism ; Saccharomyces cerevisiae/metabolism
Czasopismo naukowe
    Wyświetlanie 1-13 z 13

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