Publications by authors named "Sebastien Fribourg"

40Publications

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic pathogenic variants.

Neurol Genet 2019 Dec 30;5(6):e369. Epub 2019 Oct 30.

Department of Neurology and Neurosurgery (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Department of Pediatrics (L.G., L.T.T., K.G., G.B.), McGill University, Montreal, Canada; Division of Clinical and Metabolic Genetics and Division of Neurology (L.G., G.Y.), The Hospital for Sick Children, University of Toronto, Toronto, Canada; Department of Child Neurology (F.K.C., M.S.V.D.K., N.I.W.), Emma Children's Hospital, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, and Amsterdam Neuroscience, Amsterdam, The Netherlands; Department of Clinical Genetics (F.K.C., R.M.V.S.), VU University Medical Center, Amsterdam, The Netherlands; Department of Human Genetics (F.K.C.), Center for Biomedical Research, Diponegoro University, Semarang, Indonesia; Department of Pediatrics (L.S.), Faculty of Medicine, University of Szeged, Szeged, Hungary; Child Health and Human Development Program (L.T.T., K.G., G.B.), Research Institute of the McGill University Health Center, Montreal, Canada; Division of Medical Genetics, Department of Specialized Medicine (L.T.T., K.G., G.B.), McGill University Health Center, Montreal, Canada; Centre de Référence Neurogénétique (F.H., C.G.), Service de Génétique, CHU Bordeaux, Bordeaux, France; Department of Pediatrics (E.L.F.), Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong, China; Developmental Neurology Department (S.D.A.), Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy; Neuroscience and Neurorehabilitation Department (G.V.), Bambino Gesu Children's Hospital, Rome, Italy; Center for Pediatric Genomic Medicine (I.T.), Children's Mercy Hospitals and Clinics, Kansas City, MO; University of Missouri-Kansas City School of Medicine (I.T.), Kansas City, MO; Department of Pathology and Laboratory Medicine (I.T.), Children's Mercy Hospitals, Kansas City, MO; Department of Pediatrics (D.M.N.), Section of Medical Genetics, Ochsner for Children, New Orleans, LA; GeneDx (R.P.), Gaithersburg, MD; Division of Neurology (K.S.L.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Department of Pediatric Neurology (E.W.), Birmingham Children's Hospital, Birmingham, United Kingdom; Department of Medical Genetics (T.P.), Telemark Hospital, Skien, Norway; Department of Paediatric Neurology (P.F.), St Georges University Hospital NHS Foundation Trust, London, United Kingdom; Clinical Genetics Service (M.M.), St George's University Hospitals NHS Foundation Trust, London, United Kingdom; Clinical Genetics Department (J.R.), Royal Devon and Exeter Hospital NHS Trust, Exeter, United Kingdom; Department of Neurology and Neurosurgery (R.W.), The Children's Hospital at Westmead, Westmead, New South Wales, Australia; Center of Developmental Neurology (H.P.), Frankfurt, Germany; Department of Neurology (B.V.D.W.), Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Neurology (D.T.), Essen University Hospital, University of Duisburg-Essen, Essen, Germany; Department of Clinical Genetics (A.D., C.S.), Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom; Wellcome Sanger Institute (DDD Study), Wellcome Genome Campus, Cambridge, United Kingdom; Department of Pediatrics (N.T.), Division of Child Neurology, University of Texas Health Science Center, Houston, TX, United States of America; Movement Disorders Center and Neurogenetics Research Program (M.C.K.), Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Program in Neuroscience (M.C.K.), Arizona State University, Tempe, AZ, United States of America; Division of Neurology (S.S.), Department of Pediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India; Division of Neurology (A.V.), Children's Hospital of Philadelphia, Philadelphia, PA; Department of Neurology (A.V.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America; Department of Child Neurology (D.T.), Neurological Institute C. Besta Foundation IRCCS, Milan, Italy; Department of Functional Genomics (M.S.V.D.K.), VU University, Amsterdam, The Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B.), Laboratory of Molecular Medicine, Bambino Gesu Children's Hospital, Rome, Italy; Laboratoire MRGM, INSERM U1211, University Bordeaux, Bordeaux, France; Université de Bordeaux (S.F.), INSERM U1212, CNRS 5320, Bordeaux, France; and Department of Human Genetics (G.B.), McGill University, Montreal, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927361PMC
December 2019

The hRPC62 subunit of human RNA polymerase III displays helicase activity.

Nucleic Acids Res 2019 11;47(19):10313-10326

ARNA Laboratory, Inserm U1212, CNRS UMR 5320, Université de Bordeaux, 33000 Bordeaux, France.

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http://dx.doi.org/10.1093/nar/gkz788DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821166PMC
November 2019

In vitro dimerization of human RIO2 kinase.

RNA Biol 2019 11 14;16(11):1633-1642. Epub 2019 Aug 14.

INSERM U1212, UMR CNRS 5320, Université de Bordeaux , Bordeaux , France.

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http://dx.doi.org/10.1080/15476286.2019.1653679DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6779401PMC
November 2019

Structural insights into the 3'-end mRNA maturation machinery: Snapshot on polyadenylation signal recognition.

Biochimie 2019 Sep 28;164:105-110. Epub 2019 Mar 28.

INSERM U1212 - CNRS 5320 & Université de Bordeaux, 146 rue Léo Saignat, 33000, Bordeaux, France. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2019.03.016DOI Listing
September 2019

Structural and interaction analysis of the Rrp5 C-terminal region.

FEBS Open Bio 2018 Oct 30;8(10):1605-1614. Epub 2018 Aug 30.

INSERM U1212 CNRS 5320 Université de Bordeaux France.

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http://doi.wiley.com/10.1002/2211-5463.12495
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http://dx.doi.org/10.1002/2211-5463.12495DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168700PMC
October 2018

Varicella-zoster virus CNS vasculitis and RNA polymerase III gene mutation in identical twins.

Neurol Neuroimmunol Neuroinflamm 2018 Nov 7;5(6):e500. Epub 2018 Sep 7.

Departments of Infectious Diseases (M.E.C-T., A.F.H., M.M., C.S.L., T.H.M), Clinical Immunology (M.C.), and Clinical Medicine (T.H.M), Aarhus University Hospital, Denmark; Université de Bordeaux (S.F.), INSERM U1212, CNRS 5320, France; St.Giles Laboratory of Human Genetics of Infectious Diseases (F.R., S.-Y.Z., J.-L.C.), Rockefeller Branch, the Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases (S.-Y.Z., J.-L.C.), Necker Branch, INSERM UMR 1163; Paris Descartes University (S.-Y.Z, J.-L.C.), Imagine Institute, France; and Department of Biomedicine (M.E.C-T., S.R.P., T.H.M.), Aarhus University (AU).

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http://dx.doi.org/10.1212/NXI.0000000000000500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6131052PMC
November 2018

Domain definition and interaction mapping for the endonuclease complex hNob1/hPno1.

RNA Biol 2018 18;15(9):1174-1180. Epub 2018 Sep 18.

a INSERM U1212, CNRS UMR5320 , Université de Bordeaux , Bordeaux , France.

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http://dx.doi.org/10.1080/15476286.2018.1517013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6284585PMC
December 2018

Pwp2 mediates UTP-B assembly via two structurally independent domains.

Sci Rep 2017 06 9;7(1):3169. Epub 2017 Jun 9.

Universität Regensburg, Biochemie-Zentrum Regensburg (BZR), Lehrstuhl Biochemie III, D-93053, Regensburg, Germany.

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http://dx.doi.org/10.1038/s41598-017-03034-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5466602PMC
June 2017

Sqt1p is an eight-bladed WD40 protein.

Acta Crystallogr F Struct Biol Commun 2016 Jan 1;72(Pt 1):59-64. Epub 2016 Jan 1.

Université de Bordeaux, IECB, 33607 Pessac, France.

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http://dx.doi.org/10.1107/S2053230X15024097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4708052PMC
January 2016

Structural analysis of human RPC32β-RPC62 complex.

J Struct Biol 2015 Dec 21;192(3):313-319. Epub 2015 Sep 21.

Université de Bordeaux, Institut Européen de Chimie et Biologie, ARNA Laboratory, F-33607 Pessac, France; Institut National de la Santé Et de la Recherche Médicale, INSERM - U869, ARNA Laboratory, F-33000 Bordeaux, France. Electronic address:

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http://dx.doi.org/10.1016/j.jsb.2015.09.004DOI Listing
December 2015

Chemical shift assignments of a new folded domain from yeast Pcf11.

Biomol NMR Assign 2015 Oct 2;9(2):421-5. Epub 2015 Jul 2.

Inserm U869, 2 rue Robert Escarpit, 33607, Pessac, France.

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http://dx.doi.org/10.1007/s12104-015-9622-2DOI Listing
October 2015

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations.

Neurology 2014 Nov 22;83(21):1898-905. Epub 2014 Oct 22.

From the Departments of Child Neurology (N.I.F., M.B., M.S.v.d.K.), Clinical Genetics (R.M.L.v.S., E.S.), and Pathology (M.B.), Neuroscience Campus (N.I.F., M.B., M.S.v.d.K.), and the Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University Medical Center, Amsterdam, the Netherlands; the Center for Genetic Medicine Research, Department of Neurology (A.V., A.P.), Children's National Medical Center, Washington, DC; the Institute of Metabolic Disease (R.S.), Baylor Research Institute, Dallas, TX; the Departments of Neurology and Neurosurgery and Human Genetics (B.B.), Montreal Neurological Institute, Canada; the Department of Paediatric Neurology (C.C.-B.), Erasmus University Hospital-Sophia Children's Hospital; the Department of Pathology (J.M.K.), Erasmus Medical Center, Rotterdam, the Netherlands; the Neuroradiology Department (P.S.P.), Centro Hospitalar do Porto, Portugal; the Division of Neurology (D.P.), Children's Hospital of Eastern Ontario, University of Ottawa, Canada; the Department of Paediatric Neurology (S.T.), Royal Belfast Hospital for Sick Children, UK; the Department of Clinical Neurosciences for Children (P.S.), Oslo University Hospital, Ullevål; University of Oslo (P.S.), Norway; the Department of Neurology (T.d.G.), Cincinnati School of Medicine and Cincinnati Children's Hospital Medical Center, OH; INSERM-IECB (S.F.), Pessac, France; the Department of Pediatric Neurology (M.D.), University of British Columbia and British Columbia Children's Hospital, Vancouver, Canada; Kennedy Krieger Institute/Johns Hopkins Medical Institutions (S.N.), Baltimore, MD; and the Departments of Pediatrics, Neurology, and Neurosurgery, Division of Pediatric Neurology (K.G., G.B.), Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1212/WNL.0000000000001002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4248461PMC
November 2014

Crucial role of the Rcl1p-Bms1p interaction for yeast pre-ribosomal RNA processing.

Nucleic Acids Res 2014 Sep 26;42(15):10161-72. Epub 2014 Jul 26.

Institut Européen de Chimie et Biologie, ARNA laboratory, Université de Bordeaux, F-33607 Pessac, France Institut National de la Santé Et de la Recherche Médicale, INSERM - U869, ARNA laboratory, F-33000 Bordeaux, France

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http://dx.doi.org/10.1093/nar/gku682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150785PMC
September 2014

Structural basis for ATP loss by Clp1p in a G135R mutant protein.

Biochimie 2014 Jun 5;101:203-7. Epub 2014 Feb 5.

Univ. Bordeaux, IECB, F-33607 Pessac, France; INSERM, U869, F-33077 Pessac, France. Electronic address:

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http://dx.doi.org/10.1016/j.biochi.2014.01.017DOI Listing
June 2014

Structural and functional aspects of winged-helix domains at the core of transcription initiation complexes.

Transcription 2012 Jan-Feb;3(1):2-7

Université de Bordeaux, Institut Européen de Chimie et Biologie, Pessac, France.

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http://dx.doi.org/10.4161/trns.3.1.18917DOI Listing
June 2012

Peptides derived from the bifunctional kinase/RNase enzyme IRE1α modulate IRE1α activity and protect cells from endoplasmic reticulum stress.

FASEB J 2011 Sep 16;25(9):3115-29. Epub 2011 Jun 16.

Inserm U1053, Avenir, Université Bordeaux 2, 146 rue Léo Saignat, 33076 Bordeaux, France.

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http://www.fasebj.org/doi/10.1096/fj.11-182931
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http://dx.doi.org/10.1096/fj.11-182931DOI Listing
September 2011

Deciphering correct strategies for multiprotein complex assembly by co-expression: application to complexes as large as the histone octamer.

J Struct Biol 2011 Aug 12;175(2):178-88. Epub 2011 Feb 12.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Département de Biologie Intégrative, Institut National de Santé et de Recherche Médicale (INSERM) U964/Centre National de Recherche Scientifique (CNRS) UMR 1704/Université de Strasbourg, 1 Rue Laurent Fries, 67404 Illkirch, France.

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http://linkinghub.elsevier.com/retrieve/pii/S104784771100040
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http://dx.doi.org/10.1016/j.jsb.2011.02.001DOI Listing
August 2011

Hexameric architecture of CstF supported by CstF-50 homodimerization domain structure.

RNA 2011 Mar 13;17(3):412-8. Epub 2011 Jan 13.

Institut Européen de Chimie et Biologie, Institut National de la Santé et de la Recherche Médicale (INSERM) U869, Pessac, France.

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http://dx.doi.org/10.1261/rna.2481011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3039141PMC
March 2011

[Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis].

Med Sci (Paris) 2009 Jan;25(1):69-76

Laboratoire de Biologie Moléculaire Eucaryote, Université de Toulouse et CNRS, 118, route de Narbonne, 31062 Toulouse, France.

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http://www.medecinesciences.org/10.1051/medsci/200925169
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http://dx.doi.org/10.1051/medsci/200925169DOI Listing
January 2009

Exploring TAR-RNA aptamer loop-loop interaction by X-ray crystallography, UV spectroscopy and surface plasmon resonance.

Nucleic Acids Res 2008 Dec 7;36(22):7146-56. Epub 2008 Nov 7.

CNRS-Université Bordeaux 1-ENITAB, UMR 5248 CBMN, Institut Européen de Chimie et Biologie, Pessac, France.

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http://dx.doi.org/10.1093/nar/gkn831DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2602780PMC
December 2008

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.

Hum Mol Genet 2008 May 29;17(9):1253-63. Epub 2008 Jan 29.

Laboratoire de Biologie Molé culaire Eucaryote, Université de Toulouse, 31062 Toulouse, France.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddn015DOI Listing
May 2008

Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.

Nucleic Acids Res 2007 28;35(17):5913-21. Epub 2007 Aug 28.

INSERM U869, Institut Européen de Chimie et Biologie, 2 rue Robert Escarpit Pessac, F-33607, France.

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http://dx.doi.org/10.1093/nar/gkm626DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2034476PMC
November 2007

The structure of the CstF-77 homodimer provides insights into CstF assembly.

Nucleic Acids Res 2007 21;35(13):4515-22. Epub 2007 Jun 21.

Institut Européen de Chimie et Biologie, INSERM U869, 2 rue Robert Escarpit Pessac, F-33607, Université Victor Segalen, Bordeaux 2.

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http://dx.doi.org/10.1093/nar/gkm458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1935011PMC
August 2007

Impaired ribosome biogenesis in Diamond-Blackfan anemia.

Blood 2007 Feb 19;109(3):1275-83. Epub 2006 Oct 19.

Laboratoire de Biologie Moléculaire des Eucaryotes, Unite Mixte de Recherche 5099, Institut d'Exploration Fonctionnelle des Génomes, CNRS, and Université Paul Sabatier, Toulouse, and Service d'oncologie-pédiatrie, Hôpital Saint-Louis, Paris, France.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2006-07-03
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http://dx.doi.org/10.1182/blood-2006-07-038372DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1785132PMC
February 2007

The archaeal exosome core is a hexameric ring structure with three catalytic subunits.

Nat Struct Mol Biol 2005 Jul 12;12(7):575-81. Epub 2005 Jun 12.

European Molecular Biology Laboratory, Heidelberg, Germany.

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http://www.nature.com/articles/nsmb952
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http://dx.doi.org/10.1038/nsmb952DOI Listing
July 2005

Solution structure of the C-terminal domain of TFIIH P44 subunit reveals a novel type of C4C4 ring domain involved in protein-protein interactions.

J Biol Chem 2005 May 24;280(21):20785-92. Epub 2005 Mar 24.

Département de Biologie et de Génomique Structurales, Institut de Génétique et de Biologie Moléculaire et Cellulaire UMR 7104, 1, rue Laurent Fries, BP 10142, 67404 Illkirch cedex, France.

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http://dx.doi.org/10.1074/jbc.M412999200DOI Listing
May 2005

Structural similarity in the absence of sequence homology of the messenger RNA export factors Mtr2 and p15.

EMBO Rep 2003 Jul;4(7):699-703

European Molecular Biology Laboratory, Meyerhofstrasse 1, D-69117 Heidelberg, Germany.

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http://dx.doi.org/10.1038/sj.embor.embor883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1326322PMC
July 2003

A novel mode of RBD-protein recognition in the Y14-Mago complex.

Nat Struct Biol 2003 Jun;10(6):433-9

European Molecular Biology Laboratory, Meyerhofstrasse 1, D-69117 Heidelberg, Germany.

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http://dx.doi.org/10.1038/nsb926DOI Listing
June 2003

Expression of FLAG fusion proteins in insect cells: application to the multi-subunit transcription/DNA repair factor TFIIH.

Protein Expr Purif 2002 Apr;24(3):513-23

Institut de Génétique et de Biologie Cellulaire et Moléculaire, 67404 Illkirch Cedex, C.U. de Strasbourg, France.

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http://linkinghub.elsevier.com/retrieve/pii/S104659280191597
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http://dx.doi.org/10.1006/prep.2001.1597DOI Listing
April 2002