Publications by authors named "Pierre Billuart"

39Publications

A missense mutation in the CSTF2 gene that impairs the function of the RNA recognition motif and causes defects in 3' end processing is associated with intellectual disability in humans.

Nucleic Acids Res 2020 Aug 20. Epub 2020 Aug 20.

Department of Cell Biology & Biochemistry, School of Medicine, Texas Tech University Health Sciences Center, Lubbock, TX 79430-6540, USA.

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http://dx.doi.org/10.1093/nar/gkaa689DOI Listing
August 2020

The intellectual disability protein Oligophrenin-1 controls astrocyte morphology and migration.

Glia 2020 Sep 19;68(9):1729-1742. Epub 2020 Feb 19.

Institut Cochin, INSERM UMR 1016, CNRS UMR 8104, Université de Paris, Paris, France.

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http://dx.doi.org/10.1002/glia.23801DOI Listing
September 2020

Do Astrocytes Play a Role in Intellectual Disabilities?

Trends Neurosci 2019 08 9;42(8):518-527. Epub 2019 Jul 9.

Neuroglial Interactions in Cerebral Physiopathology, Center for Interdisciplinary Research in Biology, Collège de France, CNRS UMR 7241, INSERM U1050, 75005 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.tins.2019.05.011DOI Listing
August 2019

Novel KDM5B splice variants identified in patients with developmental disorders: Functional consequences.

Gene 2018 Dec 12;679:305-313. Epub 2018 Sep 12.

Inserm, U1016, Institut Cochin, Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Paris, France; CNRS, UMR8104, Paris, France; Institut de Psychiatrie et de Neurosciences de Paris, 102 rue de la santé, 75014 Paris, France; Laboratoire de Génétique et Biologie Moléculaires, Hôpital Cochin, HUPC, AP-HP, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2018.09.016DOI Listing
December 2018

Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.

Stem Cells Transl Med 2016 Jul 9;5(7):860-9. Epub 2016 May 9.

Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, Rome, Italy

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http://dx.doi.org/10.5966/sctm.2015-0303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4922854PMC
July 2016

Oligophrenin1 protects mice against myocardial ischemia and reperfusion injury by modulating inflammation and myocardial apoptosis.

Cell Signal 2016 Aug 23;28(8):967-78. Epub 2016 Apr 23.

Department of Clinical and Experimental Hemostasis, Hemotherapy and Transfusion Medicine, Heinrich-Heine-University, Düsseldorf, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cellsig.2016.04.008DOI Listing
August 2016

Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.

Hum Mol Genet 2016 Jan 24;25(1):146-57. Epub 2015 Nov 24.

Inserm, U1016, Institut Cochin, Paris, France, Cnrs, UMR8104, Paris, France, Université Paris Descartes, Sorbonne Paris Cité, Paris, France, Laboratoire de Biologie et Génétique Moléculaires, HUPC, Hôpital Cochin, Paris, France,

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http://dx.doi.org/10.1093/hmg/ddv464DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4690499PMC
January 2016

Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

Am J Med Genet A 2015 Dec 11;167A(12):3076-81. Epub 2015 Sep 11.

Inserm, Institut Cochin, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.37364DOI Listing
December 2015

Oligophrenin-1 Connects Exocytotic Fusion to Compensatory Endocytosis in Neuroendocrine Cells.

J Neurosci 2015 Aug;35(31):11045-55

Institut des Neurosciences Cellulaires et Intégratives, Centre National de la Recherche Scientifique, UPR 3212, and Université de Strasbourg, 67084 Strasbourg, France, and

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http://dx.doi.org/10.1523/JNEUROSCI.4048-14.2015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6605274PMC
August 2015

Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome.

Neuromolecular Med 2015 Dec 25;17(4):353-63. Epub 2015 Jul 25.

Inserm, U1016, Faculté de Médecine, Laboratoire de Génétique et de Physiopathologie des Maladies Mentales, Institut Cochin, 24 Rue du Faubourg Saint Jacques, 75014, Paris, France.

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http://dx.doi.org/10.1007/s12017-015-8363-9DOI Listing
December 2015

Differential Expression and Regulation of Brain-Derived Neurotrophic Factor (BDNF) mRNA Isoforms in Brain Cells from Mecp2(308/y) Mouse Model.

J Mol Neurosci 2015 Aug 30;56(4):758-767. Epub 2015 Jan 30.

Institut Cochin, INSERM U1016, Génétique, Physiopathologie et Approches Pharmacologiques des Maladies Neurodéveloppementales, Université Paris Descartes, Paris, France.

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http://link.springer.com/10.1007/s12031-014-0487-0
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http://dx.doi.org/10.1007/s12031-014-0487-0DOI Listing
August 2015

Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation.

J Physiol 2012 Feb 28;590(4):763-76. Epub 2011 Nov 28.

School of Clinical and Experimental Medicine (Neuronal Networks Group), College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1113/jphysiol.2011.219907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381309PMC
February 2012

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα.

Nat Neurosci 2011 Aug 28;14(10):1293-301. Epub 2011 Aug 28.

Consiglio Nazionale delle Ricerche (CNR) Institute of Neuroscience, Department of Pharmacology, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/nn.2911DOI Listing
August 2011

A postsynaptic signaling pathway that may account for the cognitive defect due to IL1RAPL1 mutation.

Curr Biol 2010 Jan 21;20(2):103-15. Epub 2010 Jan 21.

Department of Genetics and Development, Institut Cochin, Université Paris Descartes, Centre National de la Recherche Scientifique (CNRS) Unité Mixte de Recherche (UMR) 8104, 75014 Paris, France.

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http://dx.doi.org/10.1016/j.cub.2009.12.030DOI Listing
January 2010

IL1RAPL1 controls inhibitory networks during cerebellar development in mice.

Eur J Neurosci 2009 Oct 7;30(8):1476-86. Epub 2009 Oct 7.

Institut des Neurosciences Cellulaires et Intégratives, UPR3212, Centre National de la Recherche Scientifique, 67084 Strasbourg, France.

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http://dx.doi.org/10.1111/j.1460-9568.2009.06975.xDOI Listing
October 2009

Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation.

Hum Mol Genet 2009 Jul 28;18(14):2575-83. Epub 2009 Apr 28.

Institut Cochin, Université Paris Descartes, CNRS UMR8104, 24 rue du Faubourg Saint Jacques 75014, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddp189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2701329PMC
July 2009

[X-linked mental retardation].

Med Sci (Paris) 2005 Nov;21(11):947-53

Institut Cochin, GDPM, 24, rue du Faubourg-St-Jacques, 75014 Paris, France.

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http://dx.doi.org/10.1051/medsci/20052111947DOI Listing
November 2005

The RhoGAP activity of OPHN1, a new F-actin-binding protein, is negatively controlled by its amino-terminal domain.

Mol Cell Neurosci 2003 Aug;23(4):574-86

Institut Cochin, INSERM U567, CNRS UMR8104, Université Paris V René Descartes, IFR116, 24 rue du Fg St Jacques, 75014, Paris, France.

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http://dx.doi.org/10.1016/s1044-7431(03)00078-2DOI Listing
August 2003

From fragile X mental retardation protein to Rac1 GTPase: new insights from Fly CYFIP.

Neuron 2003 Jun;38(6):843-5

Institut Cochin, INSERM unité 567, CNRS 8104, Université Paris V, CHU Cochin, 24 Rue du Faubourg Saint Jacques, 75014, Paris, France.

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http://dx.doi.org/10.1016/s0896-6273(03)00362-3DOI Listing
June 2003

A mosaic genetic screen for genes necessary for Drosophila mushroom body neuronal morphogenesis.

Development 2003 Mar;130(6):1203-13

Department of Biological Sciences, Stanford University, Stanford, CA 94305, USA.

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http://dx.doi.org/10.1242/dev.00319DOI Listing
March 2003