Publications by authors named "Patrick Aubourg"

69Publications

Intra-CSF AAV9 and AAVrh10 Administration in Nonhuman Primates: Promising Routes and Vectors for Which Neurological Diseases?

Mol Ther Methods Clin Dev 2020 Jun 11;17:771-784. Epub 2020 Apr 11.

UMR PAnTher 703 INRA/Oniris Animal Pathophysiology and Bio Therapy for Muscle and Nervous System Diseases, Oniris, Nantes-Atlantic College of Veterinary Medicine Food Sciences and Engineering, 44307 Nantes Cedex 03, France.

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http://dx.doi.org/10.1016/j.omtm.2020.04.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7184633PMC
June 2020

Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype.

Cell Rep 2018 10;25(2):368-382.e5

Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA; Department of Biology, MIT, 31 Ames Street, Cambridge, MA 02139, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183147
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http://dx.doi.org/10.1016/j.celrep.2018.09.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392048PMC
October 2018

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

Brain 2018 04;141(4):979-988

Institut National de la Santé et de la Recherche Médicale (Inserm) UMR-1169 and University Paris Sud, Le Kremlin Bicêtre, 94276, France.

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http://dx.doi.org/10.1093/brain/awy020DOI Listing
April 2018

A Somewhat Bizarre Case of Graves Disease Due to Vitamin Treatment.

J Endocr Soc 2017 May 23;1(5):431-435. Epub 2017 Mar 23.

Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires Paris-Sud, Hôpital de Bicêtre, Service d'Endocrinologie et des Maladies de la Reproduction, Le Kremlin Bicêtre, F-94275, France.

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http://dx.doi.org/10.1210/js.2017-00054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686664PMC
May 2017

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

N Engl J Med 2017 10 4;377(17):1630-1638. Epub 2017 Oct 4.

From Massachusetts General Hospital and Harvard Medical School (F.E., P.L.M.), Dana-Farber and Boston Children's Cancer and Blood Disorders Center (C. Duncan, M.A., C. Dansereau, D.A.W.), and Boston Children's Hospital, Harvard Medical School, and Harvard Stem-Cell Institute (D.A.W.), Boston, and Bluebird Bio, Cambridge (A.M.P., E.S., T.O., D.D.) - all in Massachusetts; University of Minnesota Children's Hospital, Minneapolis (P.J.O., T.C.L., W.P.M., G.V.R.); University of California, Los Angeles, Los Angeles (S.D.O., R.S., A.J.S.); University College London Great Ormond Street Hospital Institute of Child Health and Great Ormond Street Hospital NHS Trust, London (A.J.T., H.B.G., P.G.); Pediatric Neurology Department, Hôpital Bicêtre-Hôpitaux Universitaires Paris Sud, Le Kremlin Bicêtre, France (C.S., P.A.); Fundacion Investigar, Buenos Aires (H.A.); and Women's and Children's Hospital, North Adelaide, SA, Australia (D.B., N.J.C.S.).

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http://dx.doi.org/10.1056/NEJMoa1700554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5708849PMC
October 2017

Long-term outcomes of allogeneic haematopoietic stem cell transplantation for adult cerebral X-linked adrenoleukodystrophy.

Brain 2017 Apr;140(4):953-966

Department of Hematology, Oncology and Tumorimmunology, Charité Campus Virchow-Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://dx.doi.org/10.1093/brain/awx016DOI Listing
April 2017

Gene therapy for metachromatic leukodystrophy.

J Neurosci Res 2016 11;94(11):1169-79

Department of Genetic Medicine, Weill Cornell Medical College, New York, New York.

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http://dx.doi.org/10.1002/jnr.23792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027970PMC
November 2016

7-Ketocholesterol is increased in the plasma of X-ALD patients and induces peroxisomal modifications in microglial cells: Potential roles of 7-ketocholesterol in the pathophysiology of X-ALD.

J Steroid Biochem Mol Biol 2017 05 1;169:123-136. Epub 2016 Apr 1.

Biochemistry of the Peroxisome, Inflammation and Lipid Metabolism' EA 7270/Univ. Bourgogne Franche Comté/INSERM, Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.jsbmb.2016.03.037DOI Listing
May 2017

CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington's disease.

Brain 2016 Mar 29;139(Pt 3):953-70. Epub 2016 Jan 29.

1 Neuronal Signaling and Gene Regulation, Neurosciences Paris Seine, Institute of Biology Paris-Seine, Sorbonne Universités, UPMC Université Pierre et Marie Curie-Paris 6, INSERM/UMR-S 1130, CNRS/UMR 8246, 75005 Paris, France

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http://dx.doi.org/10.1093/brain/awv384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766376PMC
March 2016

Gene Therapy for Rare Central Nervous System Diseases Comes to Age.

Authors:
Patrick Aubourg

Endocr Dev 2016 10;30:141-6. Epub 2015 Dec 10.

INSERM U1169, Department of Pediatric Neurology, Bicêtre Hospital, and Paris-Sud University, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1159/000439339DOI Listing
July 2016

Cerebral adrenoleukodystrophy: a demyelinating disease that leaves the door wide open.

Authors:
Patrick Aubourg

Brain 2015 Nov;138(Pt 11):3133-6

Department of Pediatric Neurology and Inserm U1169, University Paris-Sud, Le Kremlin-Bicêtre, 94276, France

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http://dx.doi.org/10.1093/brain/awv271DOI Listing
November 2015

Inhibiting cholesterol degradation induces neuronal sclerosis and epileptic activity in mouse hippocampus.

Eur J Neurosci 2015 May 12;41(10):1345-55. Epub 2015 May 12.

Inserm U1127, CNRS UMR7225, Sorbonne Universités, UPMC Université Paris 6, UMR S1127, Institut du Cerveau et de la Moelle épinière, ICM, CHU Pitié-Salpêtrière, 47 bd de l'Hôpital, Paris, 75013, France.

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http://dx.doi.org/10.1111/ejn.12911DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439180PMC
May 2015

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Brain 2015 Feb 19;138(Pt 2):284-92. Epub 2014 Dec 19.

1 Département de Neurologie, CHU de Montpellier, 34295 Montpellier, France

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http://brain.oxfordjournals.org/content/brain/138/2/284.full
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu353DOI Listing
February 2015

Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy.

Brain 2015 Feb 22;138(Pt 2):e326. Epub 2014 Aug 22.

2 Department of Paediatric Neurology/Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands 4 Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://brain.oxfordjournals.org/content/brain/early/2014/09/
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http://www.brain.oxfordjournals.org/cgi/doi/10.1093/brain/aw
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http://dx.doi.org/10.1093/brain/awu233DOI Listing
February 2015

Prevention and reversal of severe mitochondrial cardiomyopathy by gene therapy in a mouse model of Friedreich's ataxia.

Nat Med 2014 May 6;20(5):542-7. Epub 2014 Apr 6.

1] Départment de Médecine Translationnelle et Neurogénétique, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France. [2] INSERM, U596, Illkirch, France. [3] CNRS, UMR7104, Illkirch, France. [4] Université de Strasbourg, Strasbourg, France. [5] Collège de France, Chaire de génétique humaine, Illkirch, France.

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http://dx.doi.org/10.1038/nm.3510DOI Listing
May 2014

Gene therapy for disorders of the central nervous system.

Authors:
Patrick Aubourg

Handb Clin Neurol 2013 ;113:1859-66

Department of Pediatric Neurology, INSERM UM745, University Paris-Descartes, Hôpital Bicêtre-Paris Sud, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00056-3DOI Listing
March 2014

Peroxisomal disorders.

Handb Clin Neurol 2013 ;113:1593-609

Department of Pediatric Neurology, INSERM UM745, University Paris-Descartes, Hôpital Bicêtre-Paris Sud, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/B97804445956520
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http://dx.doi.org/10.1016/B978-0-444-59565-2.00028-9DOI Listing
March 2014

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

J Inherit Metab Dis 2013 Sep 30;36(5):859-68. Epub 2012 Nov 30.

Department of Neurology, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris and University Pierre&Marie Curie, Paris, France.

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http://dx.doi.org/10.1007/s10545-012-9560-4DOI Listing
September 2013

Bioinformatic clonality analysis of next-generation sequencing-derived viral vector integration sites.

Hum Gene Ther Methods 2012 Apr 4;23(2):111-8. Epub 2012 May 4.

Department of Translational Oncology, National Center for Tumor Diseases and German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.

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http://dx.doi.org/10.1089/hgtb.2011.219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015219PMC
April 2012

X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects.

Biochim Biophys Acta 2012 Sep 28;1822(9):1465-74. Epub 2012 Mar 28.

Department of Clinical Chemistry, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2012.03.012DOI Listing
September 2012

CD1 gene polymorphisms and phenotypic variability in X-linked adrenoleukodystrophy.

PLoS One 2012 12;7(1):e29872. Epub 2012 Jan 12.

UMR 745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0029872PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3257241PMC
May 2012

rAAV human trial experience.

Methods Mol Biol 2011 ;807:429-57

Howard Hughes Medical Institute, Philadelphia, PA, USA.

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http://link.springer.com/10.1007/978-1-61779-370-7_18
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http://dx.doi.org/10.1007/978-1-61779-370-7_18DOI Listing
March 2012

[Gene therapy starts to tackle CNS disease].

Authors:
Patrick Aubourg

Rinsho Shinkeigaku 2010 Nov;50(11):842

Department of Pediatric Neurology, Hôpital Saint-Vincent de Paul, Paris, France.

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http://dx.doi.org/10.5692/clinicalneurol.50.842DOI Listing
November 2010

Gene therapy for leukodystrophies.

Hum Mol Genet 2011 Apr 31;20(R1):R42-53. Epub 2011 Mar 31.

San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.

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http://dx.doi.org/10.1093/hmg/ddr142DOI Listing
April 2011

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.

Orphanet J Rare Dis 2011 Mar 10;6. Epub 2011 Mar 10.

Pediatric Neurology and Endocrinology, Hôpital St Vincent de Paul, Paris, France.

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http://dx.doi.org/10.1186/1750-1172-6-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3064617PMC
March 2011

[Gene therapy of x-linked adrenoleukodystrophy using hematopoietic stem cells and a lentiviral vector].

Bull Acad Natl Med 2010 Feb;194(2):255-64; discussion 264-8

Inserm U745, Facult6 de Pharmacie, 4, avenue de l'Observatoire, 75006 Paris.

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February 2010

Hematopoietic stem cell transplantation and hematopoietic stem cell gene therapy in X-linked adrenoleukodystrophy.

Brain Pathol 2010 Jul;20(4):857-62

INSERM UMR745, University Paris-Descartes and Department of Pediatric Endocrinology and Neurology, Hôpital Saint-Vincent de Paul, Paris, France.

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http://dx.doi.org/10.1111/j.1750-3639.2010.00394.xDOI Listing
July 2010

General aspects and neuropathology of X-linked adrenoleukodystrophy.

Brain Pathol 2010 Jul;20(4):817-30

Institut Neuropatologia, Servei Anatomia Patològica, Institut d'Investigació Biomèdica de Bellvitge IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, CIBERNED, Spain.

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http://www.elaespana.es/wp-content/uploads/2011/03/Ferrer-20
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http://doi.wiley.com/10.1111/j.1750-3639.2010.00390.x
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http://dx.doi.org/10.1111/j.1750-3639.2010.00390.xDOI Listing
July 2010

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.

Hum Mol Genet 2010 May 23;19(10):2005-14. Epub 2010 Feb 23.

Neurometabolic Disease Lab, Institut of Neuropathology, Institut d'Investigació Biomèdica de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.

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http://dx.doi.org/10.1093/hmg/ddq082DOI Listing
May 2010

Peroxisomes, myelination, and axonal integrity in the CNS.

Neuroscientist 2009 Aug;15(4):367-79

Laboratory of Cell Metabolism, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1177/1073858409336297DOI Listing
August 2009

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1.

Hum Mol Genet 2009 Aug 5;18(15):2768-78. Epub 2009 May 5.

Faculté des Sciences Pharmaceutiques et Biologiques, UMR745 INSERM, Université Paris Descartes, Paris 75006, France.

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http://dx.doi.org/10.1093/hmg/ddp212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2722187PMC
August 2009

Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample.

J Neurol 2009 Aug 8;256(8):1277-80. Epub 2009 Apr 8.

Department of Neurology, University Hospital Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1007/s00415-009-5114-6DOI Listing
August 2009

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype.

Biochem Biophys Res Commun 2008 Dec 1;377(1):176-80. Epub 2008 Oct 1.

Department of Biochemical Genetics and Molecular Biology, Dr von Hauner Children's Hospital, Research Center, Ludwig-Maximilians-University, Munich, Germany.

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http://dx.doi.org/10.1016/j.bbrc.2008.09.092DOI Listing
December 2008

Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy.

Curr Opin Mol Ther 2008 Oct;10(5):471-8

INSERM U745 and University René Descartes Paris5, Hôpital Saint-Vincent de Paul, Paris, France.

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October 2008

Axons need glial peroxisomes.

Authors:
Patrick Aubourg

Nat Genet 2007 Aug;39(8):936-8

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http://www.nature.com/articles/ng0807-936
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http://dx.doi.org/10.1038/ng0807-936DOI Listing
August 2007

Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy.

Hum Mol Genet 2006 Jan 25;15(1):53-64. Epub 2005 Nov 25.

Institut National de la Santé et de la Recherche Médicale U561, Université Paris V, 75014 Paris, France.

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http://dx.doi.org/10.1093/hmg/ddi425DOI Listing
January 2006

Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy.

Hum Mol Genet 2005 May 30;14(10):1293-303. Epub 2005 Mar 30.

Institut National de la Santé et de la Recherche Médicale U561, Hôpital Saint-Vincent de Paul, Paris, France.

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http://dx.doi.org/10.1093/hmg/ddi140DOI Listing
May 2005

T-cell receptor Vbeta gene usage in CSF lymphocytes in X-linked adrenoleukodystrophy.

J Mol Recognit 2005 May-Jun;18(3):254-61

Laboratoire d'Immunopathologie, Institut d'Immunohématologie, Hôpital Central, Hôpitaux Universitaires de Strasbourg, France.

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http://dx.doi.org/10.1002/jmr.727DOI Listing
August 2005

Mouse liver PMP70 and ALDP: homomeric interactions prevail in vivo.

Biochim Biophys Acta 2004 Aug;1689(3):235-43

Instituto de Biologia Molecular e Celular, Rua do Campo Alegre, Porto, Portugal.

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http://dx.doi.org/10.1016/j.bbadis.2004.04.001DOI Listing
August 2004

Human CD34+ cells differentiate into microglia and express recombinant therapeutic protein.

Proc Natl Acad Sci U S A 2004 Mar 27;101(10):3557-62. Epub 2004 Feb 27.

Institut National de la Santé et de la Recherche Médicale U561, Hôpital Saint-Vincent de Paul, 75014 Paris, France.

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http://dx.doi.org/10.1073/pnas.0306431101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC373501PMC
March 2004

Adrenoleukodystrophy: the most frequent genetic cause of Addison's disease.

Horm Res 2003 ;59 Suppl 1:104-5

Department of Paediatric Endocrinology, Saint Vincent de Paul Hospital, Paris, France.

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http://dx.doi.org/10.1159/000067833DOI Listing
November 2003