Jean-Louis Mandel

Jean-Louis Mandel

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Jean-Louis Mandel

Jean-Louis Mandel

Publications by authors named "Jean-Louis Mandel"

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Attitudes towards genetic information delivered by high-throughput sequencing among clinical molecular Geneticists, genetic counselors, medical advisors and students in France.

Eur J Med Genet 2019 Sep 16:103770. Epub 2019 Sep 16.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM U1258, CNRS UMR7104, University of Strasbourg, 67400, Illkirch, France.

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http://dx.doi.org/10.1016/j.ejmg.2019.103770DOI Listing
September 2019

Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum Disorder.

Biol Psychiatry 2018 08 9;84(4):239-252. Epub 2018 Jan 9.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France; Centre National de la Recherche Scientifique, UMR 7104, Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France; Université de Strasbourg, Illkirch, France; Laboratory of Genetic Diagnostics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2018.01.002DOI Listing
August 2018

[The RARE 2017 meeting and the French Foundation of Rare Diseases].

Med Sci (Paris) 2018 May 18;34 Hors série n°1. Epub 2018 Jun 18.

Président de la Fondation Maladies Rares, Fondation Maladies Rares, 96, rue Didot, 75013 Paris, France.

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http://dx.doi.org/10.1051/medsci/201834s105DOI Listing
May 2018

Fragile X syndrome.

Nat Rev Dis Primers 2017 Sep 29;3:17065. Epub 2017 Sep 29.

MIND Institute, UC Davis Health, University of California, Davis, 2826 50th Street, Sacramento, California 95817, USA.

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http://dx.doi.org/10.1038/nrdp.2017.65DOI Listing
September 2017

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Am J Hum Genet 2017 Jan 8;100(1):105-116. Epub 2016 Dec 8.

Institut de Genetique et de Biologie Moleculaire et Cellulaire, 67400 Illkirch-Graffenstaden, France; INSERM U964, 67400 Illkirch-Graffenstaden, France; CNRS UMR 7104, 67400 Illkirch-Graffenstaden, France; Université de Strasbourg, 67400 Illkirch, France; Laboratoire de diagnostic génétique, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, 67000 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223023PMC
January 2017

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Prenat Diagn 2016 Dec 2;36(13):1276-1279. Epub 2016 Dec 2.

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs de l'Est, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1002/pd.4965DOI Listing
December 2016

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

Am J Med Genet A 2016 06 7;170(6):1626-9. Epub 2016 Apr 7.

Service of Medical Genetics, Lausanne University Hospital (CHUV), Lausanne, Switzerland.

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http://dx.doi.org/10.1002/ajmg.a.37645DOI Listing
June 2016

Fragile X Mental Retardation Protein (FMRP) controls diacylglycerol kinase activity in neurons.

Proc Natl Acad Sci U S A 2016 06 27;113(26):E3619-28. Epub 2016 May 27.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67404 Illkirch, France; Centre National de la Recherche Scientifique, UMR 7104, 67404 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67404 Illkirch, France; Université de Strasbourg, 67000 Strasbourg, France;

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http://dx.doi.org/10.1073/pnas.1522631113DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932937PMC
June 2016

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

J Hum Genet 2016 May 14;61(5):447-50. Epub 2016 Jan 14.

Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1038/jhg.2015.162DOI Listing
May 2016

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.

Authors:
Martin Hrabě de Angelis George Nicholson Mohammed Selloum Jacqui White Hugh Morgan Ramiro Ramirez-Solis Tania Sorg Sara Wells Helmut Fuchs Martin Fray David J Adams Niels C Adams Thure Adler Antonio Aguilar-Pimentel Dalila Ali-Hadji Gregory Amann Philippe André Sarah Atkins Aurelie Auburtin Abdel Ayadi Julien Becker Lore Becker Elodie Bedu Raffi Bekeredjian Marie-Christine Birling Andrew Blake Joanna Bottomley Mike Bowl Véronique Brault Dirk H Busch James N Bussell Julia Calzada-Wack Heather Cater Marie-France Champy Philippe Charles Claire Chevalier Francesco Chiani Gemma F Codner Roy Combe Roger Cox Emilie Dalloneau André Dierich Armida Di Fenza Brendan Doe Arnaud Duchon Oliver Eickelberg Chris T Esapa Lahcen El Fertak Tanja Feigel Irina Emelyanova Jeanne Estabel Jack Favor Ann Flenniken Alessia Gambadoro Lilian Garrett Hilary Gates Anna-Karin Gerdin George Gkoutos Simon Greenaway Lisa Glasl Patrice Goetz Isabelle Goncalves Da Cruz Alexander Götz Jochen Graw Alain Guimond Wolfgang Hans Geoff Hicks Sabine M Hölter Heinz Höfler John M Hancock Robert Hoehndorf Tertius Hough Richard Houghton Anja Hurt Boris Ivandic Hughes Jacobs Sylvie Jacquot Nora Jones Natasha A Karp Hugo A Katus Sharon Kitchen Tanja Klein-Rodewald Martin Klingenspor Thomas Klopstock Valerie Lalanne Sophie Leblanc Christoph Lengger Elise le Marchand Tonia Ludwig Aline Lux Colin McKerlie Holger Maier Jean-Louis Mandel Susan Marschall Manuel Mark David G Melvin Hamid Meziane Kateryna Micklich Christophe Mittelhauser Laurent Monassier David Moulaert Stéphanie Muller Beatrix Naton Frauke Neff Patrick M Nolan Lauryl Mj Nutter Markus Ollert Guillaume Pavlovic Natalia S Pellegata Emilie Peter Benoit Petit-Demoulière Amanda Pickard Christine Podrini Paul Potter Laurent Pouilly Oliver Puk David Richardson Stephane Rousseau Leticia Quintanilla-Fend Mohamed M Quwailid Ildiko Racz Birgit Rathkolb Fabrice Riet Janet Rossant Michel Roux Jan Rozman Ed Ryder Jennifer Salisbury Luis Santos Karl-Heinz Schäble Evelyn Schiller Anja Schrewe Holger Schulz Ralf Steinkamp Michelle Simon Michelle Stewart Claudia Stöger Tobias Stöger Minxuan Sun David Sunter Lydia Teboul Isabelle Tilly Glauco P Tocchini-Valentini Monica Tost Irina Treise Laurent Vasseur Emilie Velot Daniela Vogt-Weisenhorn Christelle Wagner Alison Walling Bruno Weber Olivia Wendling Henrik Westerberg Monja Willershäuser Eckhard Wolf Anne Wolter Joe Wood Wolfgang Wurst Ali Önder Yildirim Ramona Zeh Andreas Zimmer Annemarie Zimprich Chris Holmes Karen P Steel Yann Herault Valérie Gailus-Durner Ann-Marie Mallon Steve Dm Brown

Nat Genet 2015 Sep 27;47(9):969-978. Epub 2015 Jul 27.

MRC Harwell, Medical Research Council, Harwell, UK.

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http://dx.doi.org/10.1038/ng.3360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564951PMC
September 2015

[23andMed: Geneticist Jean-Louis Mandel's personal experience].

Rev Med Suisse 2015 May;11(474):1094-5

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May 2015

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Brain 2014 Dec 25;137(Pt 12):3160-70. Epub 2014 Sep 25.

1 IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), 67404 Illkirch, France 2 Inserm, U964, 67404 Illkirch, France 3 CNRS, UMR7104, 67404 Illkirch, France 4 Université de Strasbourg, 67404 Illkirch, France 5 Collège de France, Chaire de Génétique Humaine, 67404 Illkirch, France

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http://brain.oxfordjournals.org/content/brain/137/12/3160.fu
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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/awu272DOI Listing
December 2014

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

Eur J Hum Genet 2014 Jun 30;22(6):776-83. Epub 2013 Oct 30.

1] IGBMC, CNRS UMR 7104/INSERM U964/University of Strasbourg, Illkirch Cedex, France [2] Chaire de Génétique Humaine, Collège de France, Paris, France [3] Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, France.

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http://dx.doi.org/10.1038/ejhg.2013.243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4023218PMC
June 2014

Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10.

Hum Mol Genet 2013 Oct 17;22(20):4215-23. Epub 2013 Jun 17.

Present address: Computational Chemistry and Biology Group-DETEMA, Facultad de Química, UdelaR, Isidoro de María 1620 piso 3, CC1157, Montevideo, Uruguay.

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http://dx.doi.org/10.1093/hmg/ddt273DOI Listing
October 2013

Lack of myotubularin (MTM1) leads to muscle hypotrophy through unbalanced regulation of the autophagy and ubiquitin-proteasome pathways.

FASEB J 2013 Aug 21;27(8):3384-94. Epub 2013 May 21.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Illkirch, France.

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http://dx.doi.org/10.1096/fj.12-220947DOI Listing
August 2013

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Am J Hum Genet 2013 Aug 18;93(2):368-83. Epub 2013 Jul 18.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique Unité Mixte de Recherche 7104, Institut National de la Santé et de la Recherche Médicale Unité 964, University of Strasbourg, 67404 Illkirch Cedex, France; Chaire de Génétique Humaine, Collège de France, 75231 Paris Cedex 05, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.06.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3738825PMC
August 2013

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

[Genomic revolution of rare disease diagnosis].

Presse Med 2012 May 13;41 Suppl 1:S26-8. Epub 2012 Apr 13.

Université et CHU de Strasbourg, IGBMC, 67404 Illkirch cedex, France.

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http://dx.doi.org/10.1016/j.lpm.2012.02.030DOI Listing
May 2012

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

Eur J Med Genet 2011 Mar-Apr;54(2):157-60. Epub 2010 Oct 29.

Service de Génétique Médicale: centre de référence anomalies du développement Grand-Est et centre de référence affections génétiques ophtalmologiques (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1016/j.ejmg.2010.10.004DOI Listing
August 2011

G-quadruplex RNA structure as a signal for neurite mRNA targeting.

EMBO Rep 2011 Jul 1;12(7):697-704. Epub 2011 Jul 1.

IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), CNRS, UMR7104, Inserm, U596, Collège de France, Strasbourg University, Illkirch-Graffenstaden 67404, France.

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http://dx.doi.org/10.1038/embor.2011.76DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3128965PMC
July 2011

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Acta Neuropathol 2011 Feb 7;121(2):253-66. Epub 2010 Oct 7.

Department of Neurobiology and Genetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1007/s00401-010-0754-2DOI Listing
February 2011

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.

J Clin Invest 2011 Jan 6;121(1):70-85. Epub 2010 Dec 6.

Department of Neurobiology and Genetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.

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http://dx.doi.org/10.1172/JCI44021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3007152PMC
January 2011

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

SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases.

Hum Mutat 2010 Feb;31(2):127-35

Département de Biologie et Génomique Structurales, Institut de Génétique et de Biologie Moléculaire et Cellulaire (UMR7104), Centre National de la Recherche Scientifique/Institut National de la Santé et de la Recherche Médicale/Université de Strasbourg, Illkirch, France.

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http://doi.wiley.com/10.1002/humu.21155
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http://dx.doi.org/10.1002/humu.21155DOI Listing
February 2010

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.

Proc Natl Acad Sci U S A 2009 Nov 21;106(44):18763-8. Epub 2009 Oct 21.

Department of Neurobiology and Genetics, and Imaging Center-Electron Microscopy, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale U964, Centre National de la Recherche Scientifique, Unite Mixte de Recherche 7104, Université Louis Pasteur, Collège de France, 67404 Illkirch, France.

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http://dx.doi.org/10.1073/pnas.0900705106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2773964PMC
November 2009

Jean B Dausset, 19 October 1916-6 June 2009.

Eur J Hum Genet 2009 Nov;17(11):1365-6

Fondation Jean Dausset - Centre d'Etude du Polymorphisme Humaine (CEPH), 27, rue Juliette Dodu, 75010 Paris, France.

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http://dx.doi.org/10.1038/ejhg.2009.150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986685PMC
November 2009

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Neuromuscul Disord 2009 Apr 19;19(4):255-60. Epub 2009 Mar 19.

Laboratoire de diagnostic génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1016/j.nmd.2009.02.003DOI Listing
April 2009

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.

Proc Natl Acad Sci U S A 2009 Feb 3;106(6):1820-5. Epub 2009 Feb 3.

Laboratoire Physiopathologie des Syndromes Rares Héréditaires, AVENIR-Inserm, EA3949, Faculté de Médecine de Strasbourg, Université Louis Pasteur, 11 rue Humann, 67085 Strasbourg, France.

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http://www.pnas.org/lookup/doi/10.1073/pnas.0812518106
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http://dx.doi.org/10.1073/pnas.0812518106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2635307PMC
February 2009

Cells lacking the fragile X mental retardation protein (FMRP) have normal RISC activity but exhibit altered stress granule assembly.

Mol Biol Cell 2009 Jan 12;20(1):428-37. Epub 2008 Nov 12.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Université Louis Pasteur, Collège de France, Chaire de Génétique Humaine, Illkirch-Graffenstaden, France.

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http://dx.doi.org/10.1091/mbc.e08-07-0737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2613094PMC
January 2009

SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

J Neurol 2009 Jan 9;256(1):104-8. Epub 2009 Feb 9.

Dépt. de Neurologie, Hôpital Civil, Centre Hospitalier Universitaire de Strasbourg 1, place de l'Hôpital, 67000 Strasbourg, France.

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http://dx.doi.org/10.1007/s00415-009-0083-3DOI Listing
January 2009

The G-quartet containing FMRP binding site in FMR1 mRNA is a potent exonic splicing enhancer.

Nucleic Acids Res 2008 Sep 24;36(15):4902-12. Epub 2008 Jul 24.

IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Inserm U596, CNRS UMR7104, Université Louis Pasteur, Collège de France, Illkirch, F-67400 France.

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http://dx.doi.org/10.1093/nar/gkn472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2528169PMC
September 2008

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

Neuromuscul Disord 2007 Dec 6;17(11-12):955-9. Epub 2007 Sep 6.

Département de Neurologie, Hôpital Civil de Strasbourg, 1 Place de l'Hôpital, BP426, 67091 Strasbourg, France.

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http://dx.doi.org/10.1016/j.nmd.2007.06.467DOI Listing
December 2007

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nat Genet 2007 Sep 5;39(9):1134-9. Epub 2007 Aug 5.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Molecular Pathology, F-67400 Illkirch, France.

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http://www.nature.com/doifinder/10.1038/ng2086
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http://dx.doi.org/10.1038/ng2086DOI Listing
September 2007

Pathogenic and non-pathogenic polyglutamine tracts have similar structural properties: towards a length-dependent toxicity gradient.

J Mol Biol 2007 Aug 18;371(1):235-44. Epub 2007 May 18.

Department of Molecular Pathology, Institut de Génétique et Biologie Moléculaire et Cellulaire, UMR 7104-CNRS/INSERM/ULP, BP10142, 67404 Illkirch Cédex, CU de Strasbourg, France.

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http://linkinghub.elsevier.com/retrieve/pii/S002228360700652
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http://dx.doi.org/10.1016/j.jmb.2007.05.028DOI Listing
August 2007

A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.

Hum Mol Genet 2006 Nov 28;15(21):3098-106. Epub 2006 Sep 28.

Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Department of Molecular Pathology, Strasbourg, France.

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http://dx.doi.org/10.1093/hmg/ddl250DOI Listing
November 2006

[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].

Med Sci (Paris) 2006 Nov;22(11):901-4

Laboratoire de génétique médicale EA3949, Faculté de Médecine, Université Louis Pasteur, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, avenue Molière, 67098 Strasbourg Cedex, France.

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http://dx.doi.org/10.1051/medsci/20062211901DOI Listing
November 2006

The evolutionary origin of peroxisomes: an ER-peroxisome connection.

Mol Biol Evol 2006 Apr 1;23(4):838-45. Epub 2006 Feb 1.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique/Institut National de la Sante et de la Recherche Medicale/Université Louis Pasteur/Collège de France, Illkirch, France.

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http://dx.doi.org/10.1093/molbev/msj103DOI Listing
April 2006

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

J Hum Genet 2006 25;51(1):81-4. Epub 2005 Nov 25.

EA Laboratoire de Génétique Médicale, Faculté de Médecine, Université Louis Pasteur, 11 rue Humann, 67000 Strasbourg, France.

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http://dx.doi.org/10.1007/s10038-005-0320-2DOI Listing
March 2006

Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation program.

Hum Mol Genet 2006 Mar 24;15(5):691-703. Epub 2006 Jan 24.

Department of Molecular Pathology, Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC), CNRS/INSERM/ULP, BP10142, 67404 Illkirch Cédex, CU de Strasbourg, France.

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http://dx.doi.org/10.1093/hmg/ddi483DOI Listing
March 2006

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.

Hum Mol Genet 2005 Dec 13;14(23):3565-77. Epub 2005 Oct 13.

Institut de Neuropatologia, Hospital Universitari de Bellvitge, Department de Biologia Cel.lular i Anatomia Patologica, Facultat de Medicina, Universitat de Barcelona, Spain.

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http://academic.oup.com/hmg/article/14/23/3565/559447/Inacti
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http://dx.doi.org/10.1093/hmg/ddi384DOI Listing
December 2005

Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.

Am J Med Genet A 2005 Apr;134(3):338-40

Department of Neurology, Universidade Federal de São Paulo, São Paulo, Brazil.

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http://dx.doi.org/10.1002/ajmg.a.30574DOI Listing
April 2005

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts.

Hum Mol Genet 2005 Mar 9;14(6):835-44. Epub 2005 Feb 9.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP/Collège de France.

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http://dx.doi.org/10.1093/hmg/ddi077DOI Listing
March 2005

Functional overlap between ABCD1 (ALD) and ABCD2 (ALDR) transporters: a therapeutic target for X-adrenoleukodystrophy.

Hum Mol Genet 2004 Dec 15;13(23):2997-3006. Epub 2004 Oct 15.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM.ULP and Collè de France. Illkirch, CU de Strasbourg, France.

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http://academic.oup.com/hmg/article/13/23/2997/625594/Functi
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http://dx.doi.org/10.1093/hmg/ddh323DOI Listing
December 2004

Hsp70 and Hsp40 chaperones do not modulate retinal phenotype in SCA7 mice.

J Biol Chem 2004 Dec 19;279(53):55969-77. Epub 2004 Oct 19.

Department of Molecular Pathology, Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP/Collège de France, BP 10142, 67404 Illkirch Cedex, France.

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http://dx.doi.org/10.1074/jbc.M409062200DOI Listing
December 2004

WAVE/SCAR, a multifunctional complex coordinating different aspects of neuronal connectivity.

Dev Biol 2004 Oct;274(2):260-70

Department of Developmental Biology, Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, B.P. 10142, 67404 Illkirch Cedex, C.U. de Strasbourg, France.

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http://dx.doi.org/10.1016/j.ydbio.2004.07.009DOI Listing
October 2004

Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.

Eur J Hum Genet 2004 Sep;12(9):689-93

Institut de Génétique et Biologie Moléculaire et Cellulaire (IGBMC) (CNRS/INSERM/Université Louis Pasteur, Collège de France), 67404 Illkirch/CU Strasbourg, France.

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http://dx.doi.org/10.1038/sj.ejhg.5201247DOI Listing
September 2004

Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes.

Hum Mol Genet 2004 Jun 28;13(12):1257-65. Epub 2004 Apr 28.

Department of Molecular Pathology, Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, Illkirch, France.

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http://dx.doi.org/10.1093/hmg/ddh139DOI Listing
June 2004

Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells.

J Biol Chem 2004 Feb 1;279(8):7304-12. Epub 2003 Dec 1.

INSERM U563, Département d'Oncogenèse et Signalisation dans les Cellules Hématopoïétiques, CPTP, IFR 30, Hôpital Purpan, 31059 Toulouse Cedex, France.

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http://dx.doi.org/10.1074/jbc.M311071200DOI Listing
February 2004

Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse model.

J Neurosci 2004 Feb;24(8):1881-7

Department of Molecular Pathology, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique-Institut National de la Santé et de la Recherche Médicale-Université Louis Pasteur, Illkirch, France.

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http://dx.doi.org/10.1523/JNEUROSCI.4407-03.2004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6730412PMC
February 2004

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.

Hum Mol Genet 2003 Oct 12;12 Spec No 2:R285-92. Epub 2003 Aug 12.

IGBMC, CNRS/INSERM.ULP, Illkirch, France.

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http://dx.doi.org/10.1093/hmg/ddg273DOI Listing
October 2003

NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomes.

Exp Cell Res 2003 Sep;289(1):95-107

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, BP 10142, 67404 Illkirch, C.U. de Strasbourg, France.

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http://dx.doi.org/10.1016/s0014-4827(03)00222-2DOI Listing
September 2003

82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization.

Hum Mol Genet 2003 Jul;12(14):1689-98

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, BP 10142, 1 rue Laurent Fries, 67404 Illkirch Cedex, France.

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http://dx.doi.org/10.1093/hmg/ddg181DOI Listing
July 2003

CYFIP/Sra-1 controls neuronal connectivity in Drosophila and links the Rac1 GTPase pathway to the fragile X protein.

Neuron 2003 Jun;38(6):887-98

Department of Molecular Pathology, Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, Boite Postale 10142, 67404 Illkirch, Cedex, France.

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http://dx.doi.org/10.1016/s0896-6273(03)00354-4DOI Listing
June 2003

Progressive retinal degeneration and dysfunction in R6 Huntington's disease mice.

Hum Mol Genet 2002 Dec;11(26):3351-9

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, B.P.10142, 67404 ILLKIRCH Cedex, CU de Strasbourg, France.

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http://dx.doi.org/10.1093/hmg/11.26.3351DOI Listing
December 2002

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.

Proc Natl Acad Sci U S A 2002 Nov 21;99(23):15060-5. Epub 2002 Oct 21.

Institut de Génétique et de Biologie Moléculaire et Cellulaire, Centre National de la Recherche Scientifique/Institut National de la Santé et de la Recherche Médicale/Université Louis Pasteur Strasbourg, 67404 Illkirch Cedex, France.

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http://dx.doi.org/10.1073/pnas.212498399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC524320PMC
November 2002

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.

Hum Mol Genet 2002 Sep;11(19):2297-307

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, 1 rue Laurent Fries, BP 163, 67404 Illkirch Cedex, CU de Strasbourg, France.

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http://dx.doi.org/10.1093/hmg/11.19.2297DOI Listing
September 2002

The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.

J Cell Sci 2002 Aug;115(Pt 15):3105-17

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, 1 rue Laurent Fries, BP 10142, 67404 Illkirch Cedex, CU de Strasbourg, France.

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August 2002

Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions.

Mol Cell 2002 Aug;10(2):259-69

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, B.P.163, 67404 Illkirch Cédex, CU de Strasbourg, France.

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http://dx.doi.org/10.1016/s1097-2765(02)00602-0DOI Listing
August 2002

Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.

Curr Opin Genet Dev 2002 Jun;12(3):284-93

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, BP163, 67404 Illkirch cedex, CU de Strasbourg, France.

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http://dx.doi.org/10.1016/s0959-437x(02)00300-3DOI Listing
June 2002

Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy.

Hum Mol Genet 2002 Mar;11(5):499-505

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, B.P. 163, 67404 ILLKIRCH Cedex, C.U. de Strasbourg, France.

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http://dx.doi.org/10.1093/hmg/11.5.499DOI Listing
March 2002

Functional redundancy in the myotubularin family.

Biochem Biophys Res Commun 2002 Feb;291(2):305-12

Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP, Illkirch, C.U. de Strasbourg, France.

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http://dx.doi.org/10.1006/bbrc.2002.6445DOI Listing
February 2002