Vincent El Ghouzzi

Publications

Article dans une revue (52)

Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the RTTN Gene. Clarisse Gins,Fabien Guimiot,Séverine Drunat,Clemence Prévost,Jonathan Rosenblattet al. Neurotherapeutics, 2025, 22 (5), pp.e00621. ⟨10.1016/j.neurot.2025.e00621⟩ Article dans une revue hal-05491968v1
Radial Microbrain (Micrencephaly) Is Caused by a Recurrent Variant in the &lt;i&gt;RTTN&lt;/i&gt; Gene Clarisse Gins,Fabien Guimiot,Séverine Drunat,Clemence Prévost,Jonathan Rosenblattet al. Neurology Genetics, 2025, 11, ⟨10.1212/nxg.0000000000200221⟩ Article dans une revue hal-05016107v1
Oropouche virus infects human neural progenitor cells and alters the growth of brain organoids Alexandra Albert,Laurine Couture,François Piumi,Sophie Lebon,Pierre Gressenset al. iScience, 2025, 29 (3), pp.114957. ⟨10.1101/2025.10.01.679540⟩ Article dans une revue hal-05338506v1
A biallelic variant in $GORASP1$ causes a novel Golgipathy with glycosylation and mitotic defects Sophie Lebon,Arnaud Bruneel,Séverine Drunat,Alexandra Albert,Zsolt Csabaet al. Life Science Alliance, 2025, 8 (4), pp.e202403065. ⟨10.26508/lsa.202403065⟩ Article dans une revue hal-04945549v1
Golgi Dysfunctions in Ciliopathies Justine Masson,Vincent El Ghouzzi Cells, 2022, ⟨10.3390/cells11182773⟩ Article dans une revue hal-03770350v1
Golgipathies reveal the critical role of the sorting machinery in brain and skeletal development Vincent El Ghouzzi,Gaelle Boncompain Nature Communications, 2022, 13 (1), pp.7397. ⟨10.1038/s41467-022-35101-y⟩ Article dans une revue hal-03883807v1
Neurological outcome in WDR62 primary microcephaly Lyse Ruaud,Séverine Drunat,Monique Elmaleh‐bergès,Anais Ernault,Sophie Guilmin Creponet al. Developmental Medicine and Child Neurology - Developmental Medicine & Child Neurology, 2022, ⟨10.1111/dmcn.15060⟩ Article dans une revue hal-03357164v1
Cortical organoids to model microcephaly Sarah Farcy,Alexandra Albert,Pierre Gressens,Alexandre D Baffet,Vincent El Ghouzzi Cells, 2022, 11 (14), pp.2135. ⟨10.3390/cells11142135⟩ Article dans une revue hal-03716249v1
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects Hala Nasser,Liza Vera,Monique Elmaleh-Bergès,Katharina Steindl,Pascaline Létardet al. Journal of Medical Genetics, 2020, pp.jmedgenet-2019-106474. ⟨10.1136/jmedgenet-2019-106474⟩ Article dans une revue hal-02466166v1
VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report Annette Uwineza,Jean-Hubert Caberg,Janvier Hitayezu,Stephane Wenric,Leon Mutesaet al. European Journal of Medical Genetics, 2019, 62 (8), pp.103704. ⟨10.1016/j.ejmg.2019.103704⟩ Article dans une revue hal-02859833v1
Golgipathies in Neurodevelopment: A New View of Old Defects Sowmyalakshmi Rasika,Sandrine Passemard,Alain Verloes,Pierre Gressens,Vincent El ghouzzi Developmental Neuroscience, 2019, 40 (5-6), pp.396-416. ⟨10.1159/000497035⟩ Article dans une revue hal-02322665v1
Endoplasmic reticulum and Golgi stress in microcephaly Sandrine Passemard,Franck Perez,Pierre Gressens,Vincent El ghouzzi Cell Stress, 2019, ⟨10.15698/cst2019.12.206⟩ Article dans une revue hal-02340189v1
Abstracts from the 50th European Society of Human Genetics Conference: Posters Sandrine Passemard,Kosuke Izumi,M Brett,E Nishi,Severine Drunatet al. European Journal of Human Genetics, 2019, 26 (S1), pp.113-819. ⟨10.1038/s41431-018-0247-7⟩ Article dans une revue hal-02324026v1
STIL balancing primary microcephaly and cancer Dhruti Patwardhan,Shyamala Mani,Sandrine Passemard,Pierre Gressens,Vincent El Ghouzzi Cell Death and Disease, 2018, 9 (2), ⟨10.1038/s41419-017-0101-9⟩ Article dans une revue hal-02322706v1
Autosomal recessive primary microcephaly due to ASPM mutations: An update Pascaline Létard,Séverine Drunat,Yoann Vial,Sarah Duerinckx,Anais Ernaultet al. Human Mutation, 2018, 39 (3), pp.319-332. ⟨10.1002/humu.23381⟩ Article dans une revue hal-02393637v1
Golgi trafficking defects in postnatal microcephaly: The evidence for “Golgipathies” Sandrine Passemard,Franck Perez,Emilie Colin-Lemesre,Sowmyalakshmi Rasika,Pierre Gressenset al. Progress in Neurobiology, 2017, 153 (3), pp.46-63. ⟨10.1016/j.pneurobio.2017.03.007⟩ Article dans une revue hal-02322811v1
Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memory Sandrine Passemard,Alain Verloes,Thierry Billette de Villemeur,Odile Boespflug-Tanguy,Karen Hernandezet al. Cortex, 2016, 74, pp.158-176. ⟨10.1016/j.cortex.2015.10.010⟩ Article dans une revue hal-02324797v1
Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons Brian N. Harding,Amanda Moccia,Séverine Drunat,Omar Soukarieh,Hélène Tubeufet al. American Journal of Human Genetics, 2016, 99 (2), pp.511-520. ⟨10.1016/j.ajhg.2016.07.003⟩ Article dans une revue hal-02324787v1
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects Kosuke Izumi,Maggie Brett,Eriko Nishi,Séverine Drunat,Ee-Shien Tanet al. American Journal of Human Genetics, 2016, 99 (2), pp.451-459. ⟨10.1016/j.ajhg.2016.06.011⟩ Article dans une revue hal-02323212v1
ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects Kosuke Izumi,Maggie Brett,Eriko Nishi,Séverine Drunat,Ee-Shien Tanet al. American Journal of Human Genetics, 2016, 99 (2), pp.451-459. ⟨10.1016/j.ajhg.2016.06.011⟩ Article dans une revue hal-02859852v1
ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53 Vincent El Ghouzzi,Federico Bianchi,Ivan Molineris,Bryan Mounce,Gaia Bertoet al. Cell Death and Disease, 2016, 7, pp.e2440. ⟨10.1038/cddis.2016.266⟩ Article dans une revue hal-02323045v1
Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans Nina Dupuis,Assia Fafouri,Aurélien Bayot,Manoj Kumar,Tifenn Lecharpentieret al. Human Molecular Genetics, 2015, 24 (10), pp.2771-2783. ⟨10.1093/hmg/ddv038⟩ Article dans une revue hal-02324809v1
Endogenous cerebellar neurogenesis in adult mice with progressive ataxia Manoj Kumar,Zsolt Csaba,Stéphane Peineau,Rupali Srivastava,Sowmyalakshmi Rasikaet al. Annals of Clinical and Translational Neurology, 2014, 1 (12), pp.968-981. ⟨10.1002/acn3.137⟩ Article dans une revue hal-02342658v1
HIP/PAP prevents excitotoxic neuronal death and promotes plasticity Parthiv Haldipur,Nina Dupuis,Vincent Degos,Nicolas Moniaux,Vibol Chhoret al. Annals of Clinical and Translational Neurology, 2014, 1 (10), pp.739-754. ⟨10.1002/acn3.127⟩ Article dans une revue hal-02342659v1
A Novel RAB33B Mutation in Smith-McCort Dysplasia Nina Dupuis,Sophie Lebon,Manoj Kumar,Séverine Drunat,Luitgard Graul-Neumannet al. Human Mutation, 2013, 34 (2), pp.283-286. ⟨10.1002/humu.22235⟩ Article dans une revue hal-02859908v1
A Novel RAB33B Mutation in Smith-McCort Dysplasia Nina Dupuis,Sophie Lebon,Manoj Kumar,Séverine Drunat,Luitgard Graul-Neumannet al. Human Mutation, 2013, 34 (2), pp.283-286. ⟨10.1002/humu.22235⟩ Article dans une revue hal-02342666v1
Conditional Induction of Math1 Specifies Embryonic Stem Cells to Cerebellar Granule Neuron Lineage and Promotes Differentiation into Mature Granule Neurons Rupali Srivastava,Manoj Kumar,Stéphane Peineau,Zsolt Csaba,Shyamala Maniet al. STEM CELLS, 2013, 31 (4), pp.652-665. ⟨10.1002/stem.1295⟩ Article dans une revue hal-02342661v1
A new lysosomal storage disorder resembling Morquio syndrome in sibs Laurence Perrin,Odile Fenneteau,Brice Ilharreborde,Yline Capri,Marion Gérardet al. European Journal of Medical Genetics, 2012, 55 (3), pp.157-162. ⟨10.1016/j.ejmg.2012.01.001⟩ Article dans une revue istex hal-02342667v1
VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling Sandrine Passemard,Vincent El Ghouzzi,Hala Nasser,Catherine Verney,Guilan Vodjdaniet al. Journal of Clinical Investigation, 2011, 121 (8), pp.3072-3087. ⟨10.1172/JCI43824⟩ Article dans une revue hal-02342671v1
Stem cell therapy for neonatal brain injury: Perspectives and Challenges Luigi Titomanlio,Annemieke Kavelaars,Jeremie Dalous,Shyamala Mani,Vincent El Ghouzziet al. Annals of Neurology, 2011, 70 (5), pp.698-712. ⟨10.1002/ana.22518⟩ Article dans une revue istex hal-02342669v1
Implanted Neurosphere-Derived Precursors Promote Recovery After Neonatal Excitotoxic Brain Injury Luigi Titomanlio,Myriam Bouslama,Virginia Le Verche,Jeremie Dalous,Angela M. Kaindlet al. Stem Cells and Development, 2011, 20 (5), pp.865-879. ⟨10.1089/scd.2010.0302⟩ Article dans une revue hal-02342673v1
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus Ariane Dimitrov,Vincent Paupe,Charles Gueudry,Jean-Baptiste Sibarita,Graça Raposoet al. Human Molecular Genetics, 2009, 18 (3), pp.440-453. ⟨10.1093/hmg/ddn371⟩ Article dans une revue hal-02342676v1
Vulnerability of white matter towards antenatal hypoxia is linked to a species-dependent regulation of glutamate receptor subunits Romain Fontaine,Paul Olivier,Véronique Massonneau,Philippe Leroux,Vincent Degoset al. Proceedings of the National Academy of Sciences of the United States of America, 2008, 105 (43), pp.16779-16784. ⟨10.1073/pnas.0803004105⟩ Article dans une revue hal-02342678v1
AIF Deficiency Induces Early Mitochondrial Degeneration in Brain Followed by Progressive Multifocal Neuropathology Vincent El Ghouzzi,Zsolt Csaba,Paul Olivier,Benjamin Lelouvier,Leslie Schwendimannet al. Journal of Neuropathology and Experimental Neurology, 2007, 66 (9), pp.838-847. ⟨10.1097/NEN.0b013e318148b822⟩ Article dans une revue hal-02342679v1
Activated Somatostatin Type 2 Receptors Traffic In Vivo in Central Neurons from Dendrites to the Trans Golgi Before Recycling Zsolt Csaba,Benjamin Lelouvier,Cécile Viollet,Vincent El Ghouzzi,Kiyoko Toyamaet al. Traffic, 2007, 8 (7), pp.820-834. ⟨10.1111/j.1600-0854.2007.00580.x⟩ Article dans une revue hal-02342680v1
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome Elisabeth Lajeunie,Solange Heuertz,Vincent El Ghouzzi,Jelena Martinovic,Dominique Renieret al. European Journal of Human Genetics, 2006, 14 (3), pp.289-298. ⟨10.1038/sj.ejhg.5201558⟩ Article dans une revue hal-02342683v1
Dyggve–Melchior–Clausen syndrome and Smith–McCort dysplasia: Clinical and molecular findings in three families supporting genetic heterogeneity in Smith–McCort dysplasia Luitgard Neumann,Vincent El Ghouzzi,Vincent Paupe,Hans-Peter Weber,Elisabeth Fastnachtet al. American Journal of Medical Genetics Part A, 2006, 140A (5), pp.421-426. ⟨10.1002/ajmg.a.31090⟩ Article dans une revue istex hal-02342682v1
Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions Jean-Jacques Brière,Judith Favier,Paule Bénit,Vincent El Ghouzzi,Annalisa Lorenzatoet al. Human Molecular Genetics, 2005, 14 (21), pp.3263-3269. ⟨10.1093/hmg/ddi359⟩ Article dans une revue hal-02342685v1
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation David Genevieve,Delphine Héron,Vincent El Ghouzzi,Catherine Prost-Squarcioni,Martine Le Merreret al. European Journal of Human Genetics, 2005, 13 (5), pp.541-546. ⟨10.1038/sj.ejhg.5201339⟩ Article dans une revue hal-02342690v1
Recent advances in Dyggve–Melchior–Clausen syndrome Vincent Paupe,Thierry Gilbert,Martine Le Merrer,Arnold Munnich,Valérie Cormier-Daireet al. Molecular Genetics and Metabolism, 2004, 83 (1-2), pp.51-59. ⟨10.1016/j.ymgme.2004.08.012⟩ Article dans une revue hal-02342692v1
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 Xavier de Mollerat,Fiorella Gurrieri,Chad Morgan,Eugenio Sangiorgi,David Evermanet al. Human Molecular Genetics, 2003, 12 (16), pp.1959-1971. ⟨10.1093/hmg/ddg212⟩ Article dans une revue hal-02342801v1
Molecular and cellular bases of syndromic craniosynostoses Jacky Bonaventure,Vincent El Ghouzzi Expert Reviews in Molecular Medicine, 2003, 5 (4), pp.1-17. ⟨10.1017/S1462399403005751⟩ Article dans une revue hal-02342693v1
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse) Loïc de Pontual,Virginie Népote,Tania Attié-Bitach,Hassan Al Halabiah,Ha Tranget al. Human Molecular Genetics, 2003, 12 (23), pp.3173-3180. ⟨10.1093/hmg/ddg339⟩ Article dans une revue hal-02342800v1
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome Vincent El Ghouzzi,Nathalie Dagoneau,Esther Kinning,Christel Thauvin-Robinet,Wassim Chemaitillyet al. Human Molecular Genetics, 2003, 12 (3), pp.357-364. ⟨10.1093/hmg/ddg029⟩ Article dans une revue hal-02342802v1
Twist haploinsufficiency in Saethre-Chotzen syndrome induces calvarial osteoblast apoptosis due to increased TNFalpha expression and caspase-2 activation Malika Yousfi,Francoise Lasmoles,Vincent El Ghouzzi,Pierre J. Marie Human Molecular Genetics, 2002, 11 (4), pp.359-369. ⟨10.1093/hmg/11.4.359⟩ Article dans une revue hal-02342808v1
Mutations in the basic domain and the loop-helix II junction of TWIST abolish DNA binding in Saethre-Chotzen syndrome Vincent El Ghouzzi,Laurence Legeai-Mallet,Catherine Benoist-Lasselin,Elisabeth Lajeunie,Dominique Renieret al. FEBS Letters, 2001, 492 (1-2), pp.112-118. ⟨10.1016/s0014-5793(01)02238-4⟩ Article dans une revue istex hal-02342810v1
Craniosynostosis and fetal exposure to sodium valproate Elizabeth Lajeunie,Uli Barcik,John Thorne,V El Ghouzzi,Marie Bourgeoiset al. Journal of Neurosurgery, 2001, 95 (5), pp.778-782. ⟨10.3171/jns.2001.95.5.0778⟩ Article dans une revue hal-02342809v1
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome Dominique Renier,V El-Ghouzzi,Jacky Bonaventure,Martine Le Merrer,Elizabeth Lajeunieet al. Journal of Neurosurgery, 2000, 92 (4), pp.631-636. ⟨10.3171/jns.2000.92.4.0631⟩ Article dans une revue hal-02342812v1
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location Vincent El Ghouzzi,Laurence Legeai-Mallet,Sandra Aresta,Catherine Benoist,Arnold Munnichet al. Human Molecular Genetics, 2000, 9 (5), pp.813-819. ⟨10.1093/hmg/9.5.813⟩ Article dans une revue hal-02342813v1
Clinical variability in patients with Apert's syndrome Elisabeth Lajeunie,Rhoda Cameron,Vincent El Ghouzzi,Nathalie de Parseval,Pierre Journeauet al. Journal of Neurosurgery, 1999, 90 (3), pp.443-447. ⟨10.3171/jns.1999.90.3.0443⟩ Article dans une revue hal-02342818v1
Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome Vincent El Ghouzzi,Elisabeth Lajeunie,Martine Le Merrer,Valérie Cormier-Daire,Dominique Renieret al. European Journal of Human Genetics, 1999, 7 (1), pp.27-33. ⟨10.1038/sj.ejhg.5200240⟩ Article dans une revue hal-02342815v1
Mutations of the TWIST gene in the Saethre-Chotzene syndrome V El Ghouzzi,M. Le Merrer,Fabienne Perrin-Schmitt,Elisabeth Lajeunie,Paule Bénitet al. Nature Genetics, 1997, 15 (1), pp.42-46. ⟨10.1038/ng0197-42⟩ Article dans une revue hal-02342823v1