Publications by authors named "Vincent El Ghouzzi"

35 Publications

primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects.

Authors:
Hala Nasser Liza Vera Monique Elmaleh-Bergès Katharina Steindl Pascaline Letard Natacha Teissier Anais Ernault Fabien Guimiot Alexandra Afenjar Marie Laure Moutard Delphine Héron Yves Alembik Martha Momtchilova Paolo Milani Nathalie Kubis Nathalie Pouvreau Marcella Zollino Sophie Guilmin Crepon Florentia Kaguelidou Pierre Gressens Alain Verloes Anita Rauch Vincent El Ghouzzi Severine Drunat Sandrine Passemard

J Med Genet 2020 06 3;57(6):389-399. Epub 2020 Feb 3.

Département de Génétique, APHP, Hopital Robert Debré, 75019 Paris, France

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June 2020

Endoplasmic reticulum and Golgi stress in microcephaly.

Authors:
Sandrine Passemard Franck Perez Pierre Gressens Vincent El Ghouzzi

Cell Stress 2019 Oct 30;3(12):369-384. Epub 2019 Oct 30.

Université de Paris, NeuroDiderot, Inserm, F-75019 Paris, France.

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October 2019

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report.

Authors:
Annette Uwineza Jean-Hubert Caberg Janvier Hitayezu Stephane Wenric Leon Mutesa Yoann Vial Séverine Drunat Sandrine Passemard Alain Verloes Vincent El Ghouzzi Vincent Bours

Eur J Med Genet 2019 Aug 14;62(8):103704. Epub 2019 Jun 14.

Center for Human Genetics, Centre Hospitalier Universitaire, University of Liege, Liege, Belgium.

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August 2019

Golgipathies in Neurodevelopment: A New View of Old Defects.

Authors:
Sowmyalakshmi Rasika Sandrine Passemard Alain Verloes Pierre Gressens Vincent El Ghouzzi

Dev Neurosci 2018 15;40(5-6):396-416. Epub 2019 Mar 15.

NeuroDiderot, INSERM UMR1141, Université Paris Diderot, Sorbonne Paris Cité, Paris, France,

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March 2019

Correction to: ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly.

Authors:
Vincent El Ghouzzi Federico T Bianchi Ivan Molineris Bryan C Mounce Gaia E Berto Malgorzata Rak Sophie Lebon Laetitia Aubry Chiara Tocco Marta Gai Alessandra M A Chiotto Francesco Sgrò Gianmarco Pallavicini Etienne Simon-Loriere Sandrine Passemard Marco Vignuzzi Pierre Gressens Ferdinando Di Cunto

Cell Death Dis 2018 Nov 20;9(12):1155. Epub 2018 Nov 20.

Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Centre, University of Turin, Turin, Italy.

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November 2018

STIL balancing primary microcephaly and cancer.

Authors:
Dhruti Patwardhan Shyamala Mani Sandrine Passemard Pierre Gressens Vincent El Ghouzzi

Cell Death Dis 2018 01 19;9(2):65. Epub 2018 Jan 19.

PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.

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January 2018

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Authors:
Pascaline Létard Séverine Drunat Yoann Vial Sarah Duerinckx Anais Ernault Daniel Amram Stéphanie Arpin Marta Bertoli Tiffany Busa Berten Ceulemans Julie Desir Martine Doco-Fenzy Siham Chafai Elalaoui Koenraad Devriendt Laurence Faivre Christine Francannet David Geneviève Marion Gérard Cyril Gitiaux Sophie Julia Sébastien Lebon Toni Lubala Michèle Mathieu-Dramard Hélène Maurey Julia Metreau Sanaa Nasserereddine Mathilde Nizon Geneviève Pierquin Nathalie Pouvreau Clothilde Rivier-Ringenbach Massimiliano Rossi Elise Schaefer Abdelaziz Sefiani Sabine Sigaudy Yves Sznajer Yusuf Tunca Sophie Guilmin Crepon Corinne Alberti Monique Elmaleh-Bergès Brigitte Benzacken Bernd Wollnick C Geoffrey Woods Anita Rauch Marc Abramowicz Vincent El Ghouzzi Pierre Gressens Alain Verloes Sandrine Passemard

Hum Mutat 2018 03 16;39(3):319-332. Epub 2018 Jan 16.

PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.

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March 2018

Golgi trafficking defects in postnatal microcephaly: The evidence for "Golgipathies".

Authors:
Sandrine Passemard Franck Perez Emilie Colin-Lemesre Sowmyalakshmi Rasika Pierre Gressens Vincent El Ghouzzi

Prog Neurobiol 2017 06 2;153:46-63. Epub 2017 Apr 2.

PROTECT, INSERM, Université Paris Diderot, Sorbonne Paris Cité, Paris, France. Electronic address:

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June 2017

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53.

Authors:
Vincent El Ghouzzi Federico T Bianchi Ivan Molineris Bryan C Mounce Gaia E Berto Malgorzata Rak Sophie Lebon Laetitia Aubry Chiara Tocco Marta Gai Alessandra Ma Chiotto Francesco Sgrò Gianmarco Pallavicini Etienne Simon-Loriere Sandrine Passemard Marco Vignuzzi Pierre Gressens Ferdinando Di Cunto

Cell Death Dis 2017 01 19;8(1):e2567. Epub 2017 Jan 19.

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January 2017

ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly.

Authors:
Vincent El Ghouzzi Federico T Bianchi Ivan Molineris Bryan C Mounce Gaia E Berto Malgorzata Rak Sophie Lebon Laetitia Aubry Chiara Tocco Marta Gai Alessandra Ma Chiotto Francesco Sgrò Gianmarco Pallavicini Etienne Simon-Loriere Sandrine Passemard Marco Vignuzzi Pierre Gressens Ferdinando Di Cunto

Cell Death Dis 2016 10 27;7(10):e2440. Epub 2016 Oct 27.

Department of Molecular Biotechnology and Health Sciences, Molecular Biotechnology Centre, University of Turin, Turin, Italy.

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October 2016

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

Authors:
Kosuke Izumi Maggie Brett Eriko Nishi Séverine Drunat Ee-Shien Tan Katsunori Fujiki Sophie Lebon Breana Cham Koji Masuda Michiko Arakawa Adeline Jacquinet Yusuke Yamazumi Shu-Ting Chen Alain Verloes Yuki Okada Yuki Katou Tomohiko Nakamura Tetsu Akiyama Pierre Gressens Roger Foo Sandrine Passemard Ene-Choo Tan Vincent El Ghouzzi Katsuhiko Shirahige

Am J Hum Genet 2016 Aug 28;99(2):451-9. Epub 2016 Jul 28.

Research Center for Epigenetic Disease, Institute of Molecular and Cellular Biosciences, The University of Tokyo, Tokyo 113-0032, Japan; CREST, Japan Science and Technology Agency, Kawaguchi, 332-0012, Japan.

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August 2016

Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons.

Authors:
Brian N Harding Amanda Moccia Séverine Drunat Omar Soukarieh Hélène Tubeuf Lyn S Chitty Alain Verloes Pierre Gressens Vincent El Ghouzzi Sylvie Joriot Ferdinando Di Cunto Alexandra Martins Sandrine Passemard Stephanie L Bielas

Am J Hum Genet 2016 Aug 21;99(2):511-20. Epub 2016 Jul 21.

Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI 48109, USA. Electronic address:

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August 2016

Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory.

Authors:
Sandrine Passemard Alain Verloes Thierry Billette de Villemeur Odile Boespflug-Tanguy Karen Hernandez Marion Laurent Bertrand Isidor Corinne Alberti Nathalie Pouvreau Séverine Drunat Bénédicte Gérard Vincent El Ghouzzi Jorge Gallego Monique Elmaleh-Bergès Wieland B Huttner Stephan Eliez Pierre Gressens Marie Schaer

Cortex 2016 Jan 31;74:158-76. Epub 2015 Oct 31.

Office Médico-Pédagogique, Département de psychiatrie, Université de Genève, Switzerland; Stanford Cognitive & Systems Laboratory, Stanford University School of Medicine, Palo Alto, CA, USA.

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January 2016

Trans-Modulation of the Somatostatin Type 2A Receptor Trafficking by Insulin-Regulated Aminopeptidase Decreases Limbic Seizures.

Authors:
Dimitri De Bundel Assia Fafouri Zsolt Csaba Ellen Loyens Sophie Lebon Vincent El Ghouzzi Stéphane Peineau Guilan Vodjdani Foteini Kiagiadaki Najat Aourz Jessica Coppens Laura Walrave Jeanelle Portelli Patrick Vanderheyden Siew Yeen Chai Kyriaki Thermos Véronique Bernard Graham Collingridge Stéphane Auvin Pierre Gressens Ilse Smolders Pascal Dournaud

J Neurosci 2015 Aug;35(34):11960-75

Inserm, U1141, 75019 Paris, France, University Paris Diderot, Sorbonne Paris Cité, UMR1141, 75019 Paris, France,

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August 2015

Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.

Authors:
Nina Dupuis Assia Fafouri Aurélien Bayot Manoj Kumar Tifenn Lecharpentier Gareth Ball David Edwards Véronique Bernard Pascal Dournaud Séverine Drunat Marie Vermelle-Andrzejewski Catheline Vilain Marc Abramowicz Julie Désir Jacky Bonaventure Nelly Gareil Gaelle Boncompain Zsolt Csaba Franck Perez Sandrine Passemard Pierre Gressens Vincent El Ghouzzi

Hum Mol Genet 2015 May 4;24(10):2771-83. Epub 2015 Feb 4.

Inserm, U1141, Paris, France, Sorbonne Paris Cité, Univ Paris Diderot, UMRS 1141, Paris, France,

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May 2015

Endogenous cerebellar neurogenesis in adult mice with progressive ataxia.

Authors:
Manoj Kumar Zsolt Csaba Stéphane Peineau Rupali Srivastava Sowmyalakshmi Rasika Shyamala Mani Pierre Gressens Vincent El Ghouzzi

Ann Clin Transl Neurol 2014 Dec 4;1(12):968-81. Epub 2014 Nov 4.

Inserm U1141 Paris, France ; Sorbonne Paris Cité, Université Paris Diderot, UMRS 1141 Paris, France.

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December 2014

HIP/PAP prevents excitotoxic neuronal death and promotes plasticity.

Authors:
Parthiv Haldipur Nina Dupuis Vincent Degos Nicolas Moniaux Vibol Chhor Sowmyalakshmi Rasika Leslie Schwendimann Tifenn le Charpentier Elodie Rougier Paul Amouyal Gilles Amouyal Pascal Dournaud Christian Bréchot Vincent El Ghouzzi Jamila Faivre Bobbi Fleiss Shyamala Mani Pierre Gressens

Ann Clin Transl Neurol 2014 Oct 9;1(10):739-54. Epub 2014 Oct 9.

Inserm U1141 Paris, France ; Univ Paris Diderot, Sorbonne Paris Cité UMRS 1141, Paris, France ; PremUP Paris, France ; Division of Imaging Sciences and Biomedical Engineering, Centre for the Developing Brain, King's College London, King's Health Partners, St. Thomas' Hospital London, United Kingdom.

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October 2014

Conditional induction of Math1 specifies embryonic stem cells to cerebellar granule neuron lineage and promotes differentiation into mature granule neurons.

Authors:
Rupali Srivastava Manoj Kumar Stéphane Peineau Zsolt Csaba Shyamala Mani Pierre Gressens Vincent El Ghouzzi

Stem Cells 2013 Apr;31(4):652-65

Inserm, U676, Paris, France.

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April 2013

A novel RAB33B mutation in Smith-McCort dysplasia.

Authors:
Nina Dupuis Sophie Lebon Manoj Kumar Séverine Drunat Luitgard M Graul-Neumann Pierre Gressens Vincent El Ghouzzi

Hum Mutat 2013 Feb 8;34(2):283-6. Epub 2012 Nov 8.

Inserm, U676, Paris, France.

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February 2013

A new lysosomal storage disorder resembling Morquio syndrome in sibs.

Authors:
Laurence Perrin Odile Fenneteau Brice Ilharreborde Yline Capri Marion Gérard Emmanuel Bui Quoc Sandrine Passemard Jamal Ghoumid Catherine Caillaud Roseline Froissart Anne-Claude Tabet Sophie Lebon Vincent El Ghouzzi Keyvan Mazda Alain Verloes

Eur J Med Genet 2012 Mar 25;55(3):157-62. Epub 2012 Jan 25.

Departments of Genetics, AP-HP - Robert Debré University Hospital, Paris, France.

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March 2012

Stem cell therapy for neonatal brain injury: perspectives and challenges.

Authors:
Luigi Titomanlio Annemieke Kavelaars Jeremie Dalous Shyamala Mani Vincent El Ghouzzi Cobi Heijnen Olivier Baud Pierre Gressens

Ann Neurol 2011 Nov;70(5):698-712

Inserm, UMR-676, Robert Debré Hospital, Paris, France.

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November 2011

VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling.

Authors:
Sandrine Passemard Vincent El Ghouzzi Hala Nasser Catherine Verney Guilan Vodjdani Adrien Lacaud Sophie Lebon Marc Laburthe Patrick Robberecht Jeannette Nardelli Shyamala Mani Alain Verloes Pierre Gressens Vincent Lelièvre

J Clin Invest 2011 Aug;121(8):3071-87

Inserm, U676, Paris, France.

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August 2011

Implanted neurosphere-derived precursors promote recovery after neonatal excitotoxic brain injury.

Authors:
Luigi Titomanlio Myriam Bouslama Virginia Le Verche Jérémie Dalous Angela M Kaindl Yanina Tsenkina Adrien Lacaud Stéphane Peineau Vincent El Ghouzzi Vincent Lelièvre Pierre Gressens

Stem Cells Dev 2011 May 16;20(5):865-79. Epub 2011 Jan 16.

Inserm, U676, Hopital Robert Debré, Paris, France.

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May 2011

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.

Authors:
Ariane Dimitrov Vincent Paupe Charles Gueudry Jean-Baptiste Sibarita Graça Raposo Ole Vielemeyer Thierry Gilbert Zsolt Csaba Tania Attie-Bitach Valérie Cormier-Daire Pierre Gressens Pierre Rustin Franck Perez Vincent El Ghouzzi

Hum Mol Genet 2009 Feb 7;18(3):440-53. Epub 2008 Nov 7.

UMR CNRS 144, Institut Curie, 75005 Paris, France.

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February 2009

Vulnerability of white matter towards antenatal hypoxia is linked to a species-dependent regulation of glutamate receptor subunits.

Authors:
Romain H Fontaine Paul Olivier Véronique Massonneau Philippe Leroux Vincent Degos Sophie Lebon Vincent El Ghouzzi Vincent Lelièvre Pierre Gressens Olivier Baud

Proc Natl Acad Sci U S A 2008 Oct 15;105(43):16779-84. Epub 2008 Oct 15.

Institut National de la Santé et de la Recherche Médicale, AVENIR RO5230HS, Paris, France.

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October 2008

Apoptosis-inducing factor deficiency induces early mitochondrial degeneration in brain followed by progressive multifocal neuropathology.

Authors:
Vincent El Ghouzzi Zsolt Csaba Paul Olivier Benjamin Lelouvier Leslie Schwendimann Pascal Dournaud Catherine Verney Pierre Rustin Pierre Gressens

J Neuropathol Exp Neurol 2007 Sep;66(9):838-47

Institut National de la Santé et de la Recherche Médicale, U676, Paris, France.

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September 2007

Activated somatostatin type 2 receptors traffic in vivo in central neurons from dendrites to the trans Golgi before recycling.

Authors:
Zsolt Csaba Benjamin Lelouvier Cécile Viollet Vincent El Ghouzzi Kiyoko Toyama Catherine Videau Véronique Bernard Pascal Dournaud

Traffic 2007 Jul 22;8(7):820-34. Epub 2007 May 22.

Neuroendocrine Research Laboratory, Department of Human Morphology and Developmental Biology, Hungarian Academy of Sciences and Semmelweis University, 1094 Budapest, Hungary.

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July 2007

Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia.

Authors:
Luitgard M Neumann Vincent El Ghouzzi Vincent Paupe Hans-Peter Weber Elisabeth Fastnacht Andreas Leenen Sigrid Lyding Anne Klusmann Ertan Mayatepek Jörg Pelz Valerie Cormier-Daire

Am J Med Genet A 2006 Mar;140(5):421-6

Institute of Human Genetics, Charité University Medicine Berlin, Berlin, Germany.

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March 2006

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

Authors:
Elisabeth Lajeunie Solange Heuertz Vincent El Ghouzzi Jelena Martinovic Dominique Renier Martine Le Merrer Jacky Bonaventure

Eur J Hum Genet 2006 Mar;14(3):289-98

1INSERM U 393, Hôpital Necker-Enfants malades, Paris, France.

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March 2006

Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.

Authors:
Jean-Jacques Brière Judith Favier Paule Bénit Vincent El Ghouzzi Annalisa Lorenzato Daniel Rabier Maria Flavia Di Renzo Anne-Paule Gimenez-Roqueplo Pierre Rustin

Hum Mol Genet 2005 Nov 29;14(21):3263-9. Epub 2005 Sep 29.

INSERM U676, Hôpital Robert Debré, Paris, France

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November 2005