Pierre-Emmanuel Gleizes

Publications

Article dans une revue (61)

VEXAS anemia is a mosaic erythroblastopenia François Rodrigues,Giulia Hardouin,Sara El Hoss,Aya Ghoul,Emilie-Fleur Gautieret al. Blood, 2026, 147 (11), pp.1178-1190. ⟨10.1182/blood.2025029081⟩ Article dans une revue hal-04935190v2
The 3′–5′ exoribonuclease ISG20L2 contributes to 3′ terminus maturation of 18S and 28S ribosomal RNAs Maxime Aubert,Hélène Zuber,Marine Mommert-Tripon,Sarah Le Page,Nathalie Montel-Lehryet al. Nucleic Acids Research, 2025, 53 (21), ⟨10.1093/nar/gkaf1180⟩ Article dans une revue hal-05375221v1
Off-axis electron holography of unstained bacteriophages: Towards electrostatic potential measurement of biological samples Elio Karim,Christophe Gatel,Amélie Leforestier,Stéphanie Balor,Vanessa Soldanet al. Journal of Structural Biology, 2025, 217 (1), pp.108169. ⟨10.1016/j.jsb.2025.108169⟩ Article dans une revue hal-04901847v1
Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies? L. da Costa,Narla Mohandas,Ludivine David-Nguyen,Jessica Platon,Isabelle Marieet al. Blood Cells, Molecules and Diseases, 2024, 106, pp.102838. ⟨10.1016/j.bcmd.2024.102838⟩ Article dans une revue hal-04473527v1
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement Marcin Wlodarski,Adrianna Vlachos,Jason Farrar,Lydie Da Costa,Antonis Kattamiset al. The Lancet Haematology, 2024, 11 (5), pp.e368-e382. ⟨10.1016/S2352-3026(24)00063-2⟩ Article dans une revue hal-04566715v1
A nuclear protein quality control system for elimination of nucleolus-related inclusions Lorène Brunello,Jolanta Polanowska,Léo Le Tareau,Chantal Maghames,Virginie Georgetet al. EMBO Journal, 2024, 44 (3), pp.801-823. ⟨10.1038/s44318-024-00333-9⟩ Article dans une revue hal-05087097v1
SURF2 is a MDM2 antagonist in triggering the nucleolar stress response Sophie Tagnères,Paulo Espirito Santo,Julie Radermecker,Dana Rinaldi,Carine Fromentet al. Nature Communications, 2024, 15 (1), pp.8404. ⟨10.1038/s41467-024-52659-x⟩ Article dans une revue hal-04739145v1
Collectively building a mentor–mentee relationship through a one-day workshop Sophie Tagnères,Paulo Espirito Santo,Julie Radermecker,Dana Rinaldi,Carine Fromentet al. Nature Biotechnology, 2023, 41 (12), pp.1829-1833. ⟨10.1038/s41587-023-02056-4⟩ Article dans une revue hal-04827523v1
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia Marie-Françoise O'Donohue,Lydie da Costa,Marco Lezzerini,Sule Unal,Clément Joretet al. Blood, 2022, 139 (21), pp.3111-3126. ⟨10.1182/blood.2021011846⟩ Article dans une revue hal-03664461v1
Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype Simon Lebaron,Marie-Françoise O'Donohue,Scott Smith,Kendra Engleman,Jane Juusolaet al. Human Mutation, 2022, 43 (3), pp.389-402. ⟨10.1002/humu.24323⟩ Article dans une revue hal-03664473v1
The final step of 40S ribosomal subunit maturation is controlled by a dual key lock Laura Plassart,Ramtin Shayan,Christian Montellese,Dana Rinaldi,Natacha Larburuet al. eLife, 2021, 10, pp.e61254. ⟨10.7554/eLife.61254⟩ Article dans une revue hal-03383808v2
Human METTL18 is a histidine-specific methyltransferase that targets RPL3 and affects ribosome biogenesis and function Jędrzej Małecki,Marie-Francoise Odonohue,Yeji Kim,Magnus Jakobsson,Luca Gessaet al. Nucleic Acids Research, 2021, 49 (6), pp.3185-3203. ⟨10.1093/nar/gkab088⟩ Article dans une revue hal-03363245v1
p53 activation during ribosome biogenesis regulates normal erythroid differentiation Salomé Le Goff,Ismael Boussaid,Celia Floquet,Anna Raimbault,Isabelle Hatinet al. Blood, 2021, 137 (1), pp.89-102. ⟨10.1182/blood.2019003439⟩ Article dans une revue hal-03442857v1
The human methyltransferase ZCCHC4 catalyses N6-methyladenosine modification of 28S ribosomal RNA Rita Pinto,Cathrine B Vågbø,Magnus E Jakobsson,Yeji Kim,Marijke P Baltissenet al. Nucleic Acids Research, 2020, 48 (2), pp.830 - 846. ⟨10.1093/nar/gkz1147⟩ Article dans une revue hal-02989962v1
Good Vibrations: Structural Remodeling of Maturing Yeast Pre-40S Ribosomal Particles Followed by Cryo-Electron Microscopy Ramtin Shayan,Dana Rinaldi,Natacha Larburu,Laura Plassart,Stéphanie Baloret al. Molecules, 2020, 25 (5), pp.1125. ⟨10.3390/molecules25051125⟩ Article dans une revue hal-02998843v1
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome Maname Benyelles,Marie-Françoise O'Donohue,Laëtitia Kermasson,Elodie Lainey,Raphael Borieet al. Human Molecular Genetics, 2020, 29 (6), pp.907-922. ⟨10.1093/hmg/ddaa011⟩ Article dans une revue hal-02458897v1
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism Marco Lezzerini,Marianna Penzo,Marie-Françoise O'Donohue,Carolina Marques dos Santos Vieira,Manon Sabyet al. Nucleic Acids Research, 2020, 48 (2), pp.770-787. ⟨10.1093/nar/gkz1042⟩ Article dans une revue hal-02551186v1
Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models Maname Benyelles,Harikleia Episkopou,Marie-Françoise O'Donohue,Laetitia Kermasson,Pierre Frangeet al. EMBO Molecular Medicine, 2019, 11 (7), pp.e10201. ⟨10.15252/emmm.201810201⟩ Article dans une revue hal-02327835v1
Conformational proofreading of distant 40S ribosomal subunit maturation events by a long-range communication mechanism Valentin Mitterer,Ramtin Shayan,Sébastien Ferreira-Cerca,Guillaume Murat,Tanja Enneet al. Nature Communications, 2019, 10 (1), pp.2754. ⟨10.1038/s41467-019-10678-z⟩ Article dans une revue hal-02399643v1
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation Amy O'Connell,Maxim Gerashchenko,Marie-Françoise O'Donohue,Samantha Rosen,Eric Huntzingeret al. PLoS Genetics, 2019, 15 (2), pp.e1007917. ⟨10.1371/journal.pgen.1007917⟩ Article dans une revue hal-02327840v1
The path of pre-ribosomes through the nuclear pore complex revealed by electron tomography Franck Delavoie,Vanessa Soldan,Dana Rinaldi,Jean-Yves Dauxois,Pierre-Emmanuel Gleizes Nature Communications, 2019, 10 (1), pp.497. ⟨10.1038/s41467-019-08342-7⟩ Article dans une revue hal-02000677v1
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature Cedric Le Caignec,Benjamin Ory,François Lamoureux,Marie-Françoise O'Donohue,Emilien Orgebinet al. American Journal of Human Genetics, 2019, 105 (5), pp.1040-1047. ⟨10.1016/j.ajhg.2019.09.024⟩ Article dans une revue hal-02327833v1
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases Maxime Aubert,Marie-Françoise O'Donohue,Simon Lebaron,Pierre-Emmanuel Gleizes Biomolecules, 2018, 8 (4), pp.123. ⟨10.3390/biom8040123⟩ Article dans une revue hal-02327845v1
Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models Anirban Chakraborty,Tamayo Uechi,Yukari Nakajima,Hanna Gazda,Marie-Françoise O'Donohueet al. Biochemical and Biophysical Research Communications, 2018, 495 (2), pp.1839-1845. ⟨10.1016/j.bbrc.2017.12.019⟩ Article dans une revue istex hal-02327850v1
Maturation of pre‐40S particles in yeast and humans Emilie Cerezo,Célia Plisson‐chastang,Anthony K Henras,Simon Lebaron,Pierre‐emmanuel Gleizeset al. Wiley Interdisciplinary Reviews: RNA, 2018, 10 (1), pp.e1516. ⟨10.1002/WRNA.1516⟩ Article dans une revue hal-02399840v1
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia Marcin Wlodarski,Lydie da Costa,Marie-Françoise O'Donohue,Marc Gastou,Narjesse Karboulet al. Haematologica, 2018, 103 (6), pp.949-958. ⟨10.3324/haematol.2017.177980⟩ Article dans une revue hal-02327846v1
The Genetic Landscape of Diamond-Blackfan Anemia Jacob Ulirsch,Jeffrey Verboon,Shideh Kazerounian,Michael Guo,Daniel Yuanet al. American Journal of Human Genetics, 2018, 103 (6), pp.930-947. ⟨10.1016/j.ajhg.2018.10.027⟩ Article dans une revue hal-02328160v1
RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes Alexis Bennett,Marie-Françoise O'Donohue,Stacey Gundry,Aye Chan,Jeffrey Widricket al. PLoS Genetics, 2018, 14 (3), pp.e1007226. ⟨10.1371/journal.pgen.1007226⟩ Article dans une revue hal-02327847v1
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience Lydie da Costa,Marie-Françoise O'Donohue,Birgit van Dooijeweert,Katarzyna Albrecht,Sule Unalet al. European Journal of Medical Genetics, 2018, 61 (11), pp.664-673. ⟨10.1016/j.ejmg.2017.10.017⟩ Article dans une revue (article de synthèse) hal-02327861v1
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism Nahuel Paolini,Martin Attwood,Samuel Sondalle,Carolina Marques dos Santos Vieira,Anita van Adrichemet al. American Journal of Human Genetics, 2017, 100 (3), pp.506-522. ⟨10.1016/j.ajhg.2017.01.034⟩ Article dans une revue hal-02327866v1
Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation Christian Montellese,Nathalie Montel-Lehry,Anthony K Henras,Ulrike Kutay,Pierre-Emmanuel Gleizeset al. Nucleic Acids Research, 2017, 45 (11), pp.6822-6836. ⟨10.1093/nar/gkx253⟩ Article dans une revue hal-02327863v1
Characterization of the lipid envelope of exosome encapsulated HEV particles protected from the immune response Sabine Chapuy-Regaud,Martine Dubois,Celia Plisson-Chastang,Tiffany Bonnefois,Sébastien Lhommeet al. Biochimie, 2017, 141, pp.70-79. ⟨10.1016/J.BIOCHI.2017.05.003⟩ Article dans une revue istex hal-02399744v1
The NEDD8 inhibitor MLN4924 increases the size of the nucleolus and activates p53 through the ribosomal-Mdm2 pathway Aymeric Bailly,Aurélien Perrin,Lara J. Bou Malhab,Emmanuelle Pion,Mark Laranceet al. Oncogene, 2016, 35 (4), pp.415--426. ⟨10.1038/onc.2015.104⟩ Article dans une revue hal-01878024v1
Structure of a human pre-40S particle points to a role for RACK1 in the final steps of 18S rRNA processing Natacha Larburu,Christian Montellese,Marie-Françoise O'Donohue,Ulrike Kutay,Pierre-Emmanuel Gleizeset al. Nucleic Acids Research, 2016, 44 (17), pp.8465-8478. ⟨10.1093/nar/gkw714⟩ Article dans une revue hal-02327869v1
Ribosomal 60S-subunit production: the final scene Celia Plisson-Chastang,Natacha Larburu,Pierre-Emmanuel Gleizes Nature Structural and Molecular Biology, 2015, 22 (11), pp.837-838. ⟨10.1038/NSMB.3121⟩ Article dans une revue hal-02399901v1
An overview of pre-ribosomal RNA processing in eukaryotes Anthony K Henras,Célia Plisson-Chastang,Marie-Françoise O'Donohue,Anirban Chakraborty,Pierre-Emmanuel Gleizes Wiley Interdisciplinary Reviews: RNA, 2015, 6 (2), pp.225-242. ⟨10.1002/wrna.1269⟩ Article dans une revue hal-02327876v1
Germline Mutation of RPS20, Encoding a Ribosomal Protein, Causes Predisposition to Hereditary Nonpolyposis Colorectal Carcinoma Without DNA Mismatch Repair Deficiency Taina T Nieminen,Marie-Françoise O'Donohue,Yunpeng Wu,Hannes H. Lohi,Stephen W. Schereret al. Gastroenterology, 2014, 147 (3), pp.595-598.e5. ⟨10.1053/j.gastro.2014.06.009⟩ Article dans une revue hal-02327878v1
Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA Milena Preti,Marie-Françoise O'Donohue,Nathalie Montel-Lehry,Marie-Line Bortolin-Cavaillé,Valérie Choesmelet al. Nucleic Acids Research, 2013, 41 (8), pp.4709-4723. ⟨10.1093/nar/gkt160⟩ Article dans une revue hal-02327882v1
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia Michael Landowski,Marie-Françoise O'Donohue,Christopher Buros,Roxanne Ghazvinian,Nathalie Montel-Lehryet al. Human Genetics, 2013, 132 (11), pp.1265-1274. ⟨10.1007/s00439-013-1326-z⟩ Article dans une revue hal-02327880v1
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-rRNA processing defect in Diamond-Blackfan anemia. Hanna T Gazda,Milena Preti,Mee Rie Sheen,Marie-Françoise O'Donohue,Adrianna Vlachoset al. Human Mutation, 2012, epub ahead of print. ⟨10.1002/humu.22081⟩ Article dans une revue hal-00688367v1
Diamond Blackfan anemia: ribosomal proteins going rogue. Steven R Ellis,Pierre-Emmanuel Gleizes Seminars in Hematology, 2011, 48 (2), pp.89-96. ⟨10.1053/j.seminhematol.2011.02.005⟩ Article dans une revue hal-00611893v1
Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals. Coralie Carron,Marie-Françoise O'Donohue,Valérie Choesmel,Marlène Faubladier,Pierre-Emmanuel Gleizes Nucleic Acids Research, 2011, 39 (1), pp.280-91. ⟨10.1093/nar/gkq734⟩ Article dans une revue hal-00611891v1
Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia Leana Doherty,Mee Rie Sheen,Adrianna Vlachos,Valérie Choesmel,Marie-Françoise O'Donohueet al. American Journal of Human Genetics, 2010, 86 (2), pp.222-228. ⟨10.1016/j.ajhg.2009.12.015⟩ Article dans une revue hal-02328188v1
Genetic interactions show the importance of rRNA modification machinery for the role of Rps15p during ribosome biogenesis in S. cerevisiae. Clément Bellemer,Pauline Chabosseau,Franck Gallardo,Pierre-Emmanuel Gleizes,Guillaume Stahl PLoS ONE, 2010, 5 (5), pp.e10472. ⟨10.1371/journal.pone.0010472⟩ Article dans une revue hal-00611838v1
Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits. Marie-Françoise O'Donohue,Valérie Choesmel,Marlène Faubladier,Gwennaële Fichant,Pierre-Emmanuel Gleizes Journal of Cell Biology, 2010, 190 (5), pp.853-66. ⟨10.1083/jcb.201005117⟩ Article dans une revue hal-00611842v1
[Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis]. Almass-Houd Aguissa-Touré,Lydie da Costa,Thierry Leblanc,Gil Tchernia,Sébastien Fribourget al. Médecine/Sciences, 2009, 25 (1), pp.69-76. ⟨10.1051/medsci/200925169⟩ Article dans une revue hal-00611739v1
Distinct cytoplasmic maturation steps of 40S ribosomal subunit precursors require hRio2 Ivo Zemp,Thomas Wild,Marie-Françoise O'Donohue,Franziska Wandrey,Barbara Widmannet al. Journal of Cell Biology, 2009, 185 (7), pp.1167-1180. ⟨10.1083/jcb.200904048⟩ Article dans une revue hal-02328194v1
Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder Valérie Choesmel,Sébastien Fribourg,Almass-Houd Aguissa-Touré,Noël Pinaud,Pierre Legrandet al. Human Molecular Genetics, 2008, 17 (9), pp.1253-63. ⟨10.1093/hmg/ddn015⟩ Article dans une revue hal-00308960v1
Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients Hanna Gazda,Mee Rie Sheen,Adrianna Vlachos,Valérie Choesmel,Marie-Françoise O'Donohueet al. American Journal of Human Genetics, 2008, 83 (6), pp.769-780. ⟨10.1016/j.ajhg.2008.11.004⟩ Article dans une revue hal-02328204v1
RPS19 mutations in patients with Diamond-Blackfan anemia Maria Francesca Campagnoli,Ugo Ramenghi,Marta Armiraglio,Paola Quarello,Emanuela Garelliet al. Human Mutation, 2008, 29 (7), pp.911-20. ⟨10.1002/humu.20752⟩ Article dans une revue hal-00308963v1
Impaired ribosome biogenesis in Diamond-Blackfan anemia. Valérie Choesmel,Daniel Bacqueville,Jacques Rouquette,Jacqueline Noaillac-Depeyre,Sébastien Fribourget al. Blood, 2007, 109 (3), pp.1275-83. ⟨10.1182/blood-2006-07-038372⟩ Article dans une revue hal-00308965v1
Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19. Lynn A. Gregory,Almass-Houd Aguissa-Touré,Noël Pinaud,Pierre Legrand,Pierre-Emmanuel Gleizeset al. Nucleic Acids Research, 2007, 35 (17), pp.5913-5921. ⟨10.1093/nar/gkm626⟩ Article dans une revue inserm-00175611v1
Expression of truncated latent TGF-beta-binding protein modulates TGF-beta signaling. Roberta Mazzieri,Vladimir Jurukovski,Hiroto Obata,Joanne Sung,Alec Plattet al. Journal of Cell Science, 2005, 119 (10), pp.2177-87. ⟨10.1242/jcs.02352⟩ Article dans une revue hal-00022334v1
Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells Jacques Rouquette,Valérie Choesmel,Pierre-Emmanuel Gleizes EMBO Journal, 2005, 24 (16), pp.2862-72. ⟨10.1038/sj.emboj.7600752⟩ Article dans une revue hal-00022340v1
Roles of eukaryotic ribosomal proteins in maturation and transport of pre-18S rRNA and ribosome function S. Ferreira-Cerca,Gisela Pöll,Pierre-Emmanuel Gleizes,Herbert Tschochner,Philipp Milkereit Molecular and Cellular Biology, 2005, 20 (2), pp.263-275. ⟨10.1016/j.molcel.2005.09.005⟩ Article dans une revue hal-00021190v1
Specific Role for Yeast Homologs of the Diamond Blackfan Anemia associated Rps19 Protein in Ribosome Synthesis Isabelle Léger-Silvestre,Jacqueline Marie Caffrey,Rosy Dawaliby,Diana Alehandrovna Alvarez-Arias,Nicole Gaset al. Journal of biology and chemistry, 2005, 280 (46), pp.38177-85. ⟨10.1074/jbc.M506916200⟩ Article dans une revue hal-00022332v1
The ribosomal protein Rps15p is required for nuclear exit of the 40S subunit precursors in yeast Isabelle Léger-Silvestre,Philipp Milkereit,Sébastien Ferreira-Cerca,Cosmin Saveanu,Jean-Claude Rousselleet al. EMBO Journal, 2004, 23 (12), pp.2336 - 2347. ⟨10.1038/sj.emboj.7600252⟩ Article dans une revue hal-00022401v1
Late cytoplasmic maturation of the small ribosomal subunit requires RIO proteins in Saccharomyces cerevisiae Emmanuel Vanrobays,Jean-Paul Gélugne,Pierre‐emmanuel Gleizes,Michele Caizergues-Ferrer Molecular and Cellular Biology, 2003, 23 (6), pp.2083-95. ⟨10.1128/MCB.23.6.2083-2095.2003⟩ Article dans une revue hal-00022445v1
Sequential protein association with nascent 60S ribosomal particles Cosmin Saveanu,Abdelkader Namane,Pierre-Emmanuel Gleizes,Alice Lebreton,Jean-Claude Rousselleet al. Molecular and Cellular Biology, 2003, 23 (13), pp.4449-60. ⟨10.1128/MCB.23.13.4449-4460.2003⟩ Article dans une revue hal-01350680v1
Nog2p, a putative GTPase associated with pre-60S subunits and required for late 60S maturation steps Cosmin Saveanu,D. Bienvenu,A. Namane,P. E. Gleizes,Nicole Gaset al. EMBO Journal, 2001, 20 (22), pp.6475--6484. ⟨10.1093/emboj/20.22.6475⟩ Article dans une revue pasteur-01404705v1
Hybrid and complex glycans are linked to the conserved N-glycosylation site of the third eight-cysteine domain of LTBP-1 in insect cells. P Rudd,A.K Downing,Martine Cadene,D.J Harvey,M.R Wormaldet al. Biochemistry, 2000, 39 (7), pp.1596-1603. ⟨10.1021/bi9918285⟩ Article dans une revue istex hal-02150367v1

Autre publication scientifique (1)

A Small Nucleolar RNA Linked to Diamond-Blackfan Anemia Adeline Mayeux,Nathalie Montel-Lehry,Manon Saby,Aurore Anton,Narjesse Karboulet al. 2018, pp.1299-1299. ⟨10.1182/blood-2018-99-110663⟩ Autre publication scientifique hal-02352730v1

Pré-publication, Document de travail (1)

The final step of 40S ribosomal subunit maturation is controlled by a dual key lock Laura Plassart,Ramtin Shayan,Christian Montellese,Dana Rinaldi,Natacha Larburuet al. 2020 Pré-publication, Document de travail hal-02989653v1