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Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome.
Arrondel, Christelle; Missoury, Sophia; Snoek, Rozemarijn; Patat, Julie; Menara, Giulia; Collinet, Bruno; Liger, Dominique; Durand, Dominique; Gribouval, Olivier; Boyer, Olivia; Buscara, Laurine; Martin, Gaëlle; Machuca, Eduardo; Nevo, Fabien; Lescop, Ewen; Braun, Daniela A; Boschat, Anne-Claire; Sanquer, Sylvia; Guerrera, Ida Chiara; Revy, Patrick; Parisot, Mélanie; Masson, Cécile; Boddaert, Nathalie; Charbit, Marina; Decramer, Stéphane; Novo, Robert; Macher, Marie-Alice; Ranchin, Bruno; Bacchetta, Justine; Laurent, Audrey; Collardeau-Frachon, Sophie; van Eerde, Albertien M; Hildebrandt, Friedhelm; Magen, Daniella; Antignac, Corinne; van Tilbeurgh, Herman; Mollet, Géraldine.
Afiliación
  • Arrondel C; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
  • Missoury S; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
  • Snoek R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Patat J; Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands.
  • Menara G; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
  • Collinet B; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
  • Liger D; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
  • Durand D; Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, UMR7590 CNRS/Sorbonne-Université, UPMC, Paris, France.
  • Gribouval O; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
  • Boyer O; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
  • Buscara L; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
  • Martin G; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
  • Machuca E; Department of Pediatric Nephrology, AP-HP, Necker Hospital, Paris, France.
  • Nevo F; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
  • Lescop E; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
  • Braun DA; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
  • Boschat AC; Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
  • Sanquer S; Institut de Chimie des Substances Naturelles, CNRS UPR2301, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
  • Guerrera IC; Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
  • Revy P; Mass Spectrometry Facility, INSERM UMR1163, Imagine Institute, Paris, France.
  • Parisot M; Service de Biochimie métabolomique et protéomique, Hôpital Necker-Enfants Malades, Paris, France.
  • Masson C; INSERM UMR-S1124, Université de Paris, Paris, France.
  • Boddaert N; Proteomics Platform 3P5-Necker, Université de Paris-Structure Fédérative de Recherche Necker, Inserm US24/CNRS, UMS3633, Paris, France.
  • Charbit M; Inserm UMR1163, Laboratory of Genome Dynamics in the Immune System, Labellisé Ligue contre le Cancer, Université de Paris, Imagine Institute, Paris, France.
  • Decramer S; Genomics Core Facility, Structure Fédérative de Recherche Necker, INSERM U1163 and Inserm US24/CNRS UMS3633, Université de Paris, Paris, France.
  • Novo R; Bioinformatics Platform, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
  • Macher MA; Department of Pediatric Radiology, and Imagine Institute, INSERM UMR 1163 and INSERM U1000, Université de Paris, Hôpital Necker-Enfants Malades, Paris, France.
  • Ranchin B; Department of Pediatric Nephrology, AP-HP, Necker Hospital, Paris, France.
  • Bacchetta J; Department of Pediatric Nephrology-Internal Medicine, Purpan Hospital, Toulouse, France.
  • Laurent A; Pediatric Nephrology Unit, University Hospital of Lille, Lille, France.
  • Collardeau-Frachon S; Department of Pediatric Nephrology, AP-HP, Robert Debre Hospital, Paris, France.
  • van Eerde AM; Service de Néphrologie, Rhumatologie et Dermatologie pédiatriques, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de référence de maladies rénales rares, Université de Lyon, Bron, France.
  • Hildebrandt F; Service de Néphrologie, Rhumatologie et Dermatologie pédiatriques, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de référence de maladies rénales rares, Université de Lyon, Bron, France.
  • Magen D; Service de Néphrologie, Rhumatologie et Dermatologie pédiatriques, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, Centre de référence de maladies rénales rares, Université de Lyon, Bron, France.
  • Antignac C; Department of Pathology, Hospices Civils de Lyon-Hôpital Femme-Mère-Enfant, Claude Bernard Lyon 1 University, Bron, France.
  • van Tilbeurgh H; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Mollet G; Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands.
Nat Commun ; 10(1): 3967, 2019 09 03.
Article en En | MEDLINE | ID: mdl-31481669
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ARN de Transferencia / Proteínas Nucleares / Adenosina / Proteínas de Unión al ARN / Proteínas de Unión al GTP / Proteínas Intrínsecamente Desordenadas / Hernia Hiatal / Microcefalia / Nefrosis Límite: Child / Female / Humans / Male Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2019 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: ARN de Transferencia / Proteínas Nucleares / Adenosina / Proteínas de Unión al ARN / Proteínas de Unión al GTP / Proteínas Intrínsecamente Desordenadas / Hernia Hiatal / Microcefalia / Nefrosis Límite: Child / Female / Humans / Male Idioma: En Revista: Nat Commun Asunto de la revista: BIOLOGIA / CIENCIA Año: 2019 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Reino Unido