Defects in t

Adenosine / analogs & derivatives Child Female GTP-Binding Proteins / chemistry Hernia, Hiatal / genetics Humans Intrinsically Disordered Proteins / genetics Male Microcephaly / genetics Multiprotein Complexes / chemistry Mutation Nephrosis / genetics Nuclear Proteins / chemistry RNA, Transfer / genetics RNA-Binding Proteins / chemistry

Journal

Nature communications
ISSN: 2041-1723
Titre abrégé: Nat Commun
Pays: England
ID NLM: 101528555

Informations de publication

Date de publication:
03 09 2019
Historique:
received: 18 03 2019
accepted: 09 08 2019
entrez: 5 9 2019
pubmed: 5 9 2019
medline: 8 1 2020
Statut: epublish

Résumé

N

Identifiants

DOI: 10.1038/s41467-019-11951-x PMID: 31481669 PMC: PMC6722078
pubmed: 31481669
doi: 10.1038/s41467-019-11951-x
pii: 10.1038/s41467-019-11951-x
pmc: PMC6722078
doi:

Substances chimiques

GON7 protein, human 0
Intrinsically Disordered Proteins 0
Multiprotein Complexes 0
Nuclear Proteins 0
RNA-Binding Proteins 0
N(6)-(N-threonylcarbonyl)adenosine 24719-82-2
RNA, Transfer 9014-25-9
GTP-Binding Proteins EC 3.6.1.-
YRDC protein, human EC 3.6.1.-
Adenosine K72T3FS567

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

3967

Subventions

Organisme : NIDDK NIH HHS
ID : R01 DK076683
Pays : United States

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Auteurs

Christelle Arrondel (C)

Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.

Sophia Missoury (S)

Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.

Rozemarijn Snoek (R)

Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands.
ORCID: 0000-0001-6892-3168

Julie Patat (J)

Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
ORCID: 0000-0002-6449-2724

Giulia Menara (G)

Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.

Bruno Collinet (B)

Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, UMR7590 CNRS/Sorbonne-Université, UPMC, Paris, France.
ORCID: 0000-0002-7133-9461

Dominique Liger (D)

Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.

Dominique Durand (D)

Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.
ORCID: 0000-0001-9414-5857

Olivier Gribouval (O)

Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
ORCID: 0000-0003-0238-8224

Olivia Boyer (O)

Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
Department of Pediatric Nephrology, AP-HP, Necker Hospital, Paris, France.
ORCID: 0000-0002-3957-1359

Laurine Buscara (L)

Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.

Gaëlle Martin (G)

Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.

Eduardo Machuca (E)

Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.

Fabien Nevo (F)

Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.

Ewen Lescop (E)

Institut de Chimie des Substances Naturelles, CNRS UPR2301, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France.

Daniela A Braun (DA)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Anne-Claire Boschat (AC)

Mass Spectrometry Facility, INSERM UMR1163, Imagine Institute, Paris, France.
ORCID: 0000-0001-9535-9435

Sylvia Sanquer (S)

Service de Biochimie métabolomique et protéomique, Hôpital Necker-Enfants Malades, Paris, France.
INSERM UMR-S1124, Université de Paris, Paris, France.

Ida Chiara Guerrera (IC)

Proteomics Platform 3P5-Necker, Université de Paris-Structure Fédérative de Recherche Necker, Inserm US24/CNRS, UMS3633, Paris, France.

Patrick Revy (P)

Inserm UMR1163, Laboratory of Genome Dynamics in the Immune System, Labellisé Ligue contre le Cancer, Université de Paris, Imagine Institute, Paris, France.

Mélanie Parisot (M)

Genomics Core Facility, Structure Fédérative de Recherche Necker, INSERM U1163 and Inserm US24/CNRS UMS3633, Université de Paris, Paris, France.
ORCID: 0000-0003-4312-2035

Cécile Masson (C)

Bioinformatics Platform, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.

Nathalie Boddaert (N)

Department of Pediatric Radiology, and Imagine Institute, INSERM UMR 1163 and INSERM U1000, Université de Paris, Hôpital Necker-Enfants Malades, Paris, France.

Marina Charbit (M)

Department of Pediatric Nephrology, AP-HP, Necker Hospital, Paris, France.

Stéphane Decramer (S)

Department of Pediatric Nephrology-Internal Medicine, Purpan Hospital, Toulouse, France.

Robert Novo (R)

Pediatric Nephrology Unit, University Hospital of Lille, Lille, France.

Marie-Alice Macher (MA)

Department of Pediatric Nephrology, AP-HP, Robert Debre Hospital, Paris, France.

Bruno Ranchin (B)

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.

Justine Bacchetta (J)

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.

Audrey Laurent (A)

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.

Sophie Collardeau-Frachon (S)

Department of Pathology, Hospices Civils de Lyon-Hôpital Femme-Mère-Enfant, Claude Bernard Lyon 1 University, Bron, France.
ORCID: 0000-0001-8604-1089

Albertien M van Eerde (AM)

Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Center for Molecular Medicine, Utrecht University, Utrecht, The Netherlands.

Friedhelm Hildebrandt (F)

Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
ORCID: 0000-0002-7130-0030

Daniella Magen (D)

Pediatric Nephrology Institute-Rambam Health Care Campus-Technion Faculty of Medicine, Haifa, Israel.

Corinne Antignac (C)

Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France.
Department of Genetics, AP-HP, Necker Hospital, Paris, France.
ORCID: 0000-0002-9934-4940

Herman van Tilbeurgh (H)

Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Sud, Université Paris-Saclay, Gif-sur-Yvette, France. herman.van-tilbeurgh@i2bc.paris-saclay.fr.

Géraldine Mollet (G)

Laboratory of Hereditary Kidney Diseases, INSERM UMR1163, Université de Paris, Imagine Institute, Paris, France. geraldine.mollet@inserm.fr.
ORCID: 0000-0003-4685-5736

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Classifications MeSH

questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Nucléosides › Ribonucléosides › Adénosine › Defects in t
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Defects in t
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protéines G › Defects in t
questionsmedicales.fr › États, signes et symptômes pathologiques › États anatomopathologiques › Hernie › Hernie interne › Hernie diaphragmatique › Hernie hiatale › Defects in t
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Defects in t
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines intrinsèquement désordonnées › Defects in t
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système nerveux › Malformations corticales › Malformations corticales du groupe I › Microcéphalie › Defects in t
questionsmedicales.fr › Structures macromoléculaires › Complexes multiprotéiques › Defects in t
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Defects in t
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Maladies du rein › Néphrose › Defects in t
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Defects in t
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN de transfert › Defects in t
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Defects in t