Publications
Publications de l'équipe Gleizes
- Fellmann F, Saunders C, O'Donohue MF, Reid DW, McFadden KA, Montel-Lehry N, Yu C, Fang M, Zhang J, Royer-Bertrand B, Farinelli P, Karboul N, Willer JR, Fievet L, Bhuiyan ZA, Kleinhenz AL, Jadeau J, Fulbright J, Rivolta C, Renella R, Katsanis N, Beckmann JS, Nicchitta CV, Da Costa L, Davis EE, Gleizes PE.
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants
JCI Insight, 9(17):e172475
2024 Sep OPEN ACCESS, doi: 10.1172/jci.insight.1724 - Tagnères S, Santo PE, Radermecker J, Rinaldi D, Froment C, Provost Q, Bongers M, Capeille S, Watkins N, Marcoux J, Gleizes PE, Marcel V, Plisson-Chastang C, Lebaron S.
SURF2 is a MDM2 antagonist in triggering the nucleolar stress response
Nat Commun. 15(1):8404
2024 Sep doi: 10.1038/s41467-024-52659-x - Da Costa L, Mohandas N, David-NGuyen L, Platon J, Marie I, O'Donohue MF, Leblanc T, Gleizes PE.
Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
Blood Cells Mol Dis. 106:102838
2024 May doi: 10.1016/j.bcmd.2024.102838 - Wlodarski MW, Vlachos A, Farrar JE, Da Costa LM, Kattamis A, Dianzani I, Belendez C, Unal S, Tamary H, Pasauliene R, Pospisilova D, de la Fuente J, Iskander D, Wolfe L, Liu JM, Shimamura A, Albrecht K, Lausen B, Bechensteen AG, Tedgard U, Puzik A, Quarello P, Ramenghi U, Bartels M, Hengartner H, Farah RA, Al Saleh M, Hamidieh AA, Yang W, Ito E, Kook H, Ovsyannikova G, Kager L, Gleizes PE, Dalle JH, Strahm B, Niemeyer CM, Lipton JM, Leblanc TM; international Diamond-Blackfan anaemia syndrome guideline panel.
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement
Lancet Haematol. 11(5):e368-e382
2024 May doi: 10.1016/S2352-3026(24)00063-2 - Karim E, Park B, Marcelot C, Soldan V, Balor S, Bals S, Le Forestier A, Plisson-Chastang C, Gatel C, Gleizes PE, Snoeck E.
In-line and Off-axis Electron Holography for the Study of Biological Specimens
Microsc Microanal. 22;29(29 Suppl 1):1015-1016
2023 Jul doi: 10.1093/micmic/ozad067.512 - O'Donohue MF, Da Costa LM, Lezzerini M, Unal S, Joret C, Bartels M, Brilstra E, Scheijde-Vermeulen M, Wacheul L, De Keersmaecker K, Vereecke S, Labarque V, Saby MJ, LeFevre SD, Platon J, Montel-Lehry N, Laugero N, Lacazette E, van Gassen K, Houtkooper RH, Simsek-Kiper PO, Leblanc TM, Yarali N, Cetinkaya A, Akarsu NA, Gleizes PE, Lafontaine DLJ, MacInnes AW.
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia
Blood, 139:3111-3126
2022 May OPEN ACCESS - Lebaron S, O'Donohue MF, Smith SC, Engleman KL, Juusola J, Safina NP, Thiffault I, Saunders CJ, Gleizes PE.
Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype
Hum Mutat, 43:389-402
2022 Mar - Nanjappa DP, Babu N, Khanna-Gupta A, O'Donohue MF, Sips P, Chakraborty A.
Poly (A)-specific ribonuclease (PARN): More than just "mRNA stock clearing"
Life Sci. 285:119953
2021 Nov doi: 10.1016/j.lfs.2021.119953 - Plassart L, Shayan R, Montellese C, Rinaldi D, Larburu N, Pichereaux C, Lebaron S, O’Donohue M-F, Kutay U, Marcoux J, Gleizes P-E, Plisson-Chastang C.
The final step of 40S ribosomal subunit maturation is controlled by a dual key lock
Elife, 10:e61254
2021 Apr OPEN ACCESS. doi: 10.7554/eLife.61254. - Małecki JM, Odonohue MF, Kim Y, Jakobsson ME, Gessa L, Pinto R, Wu J, Davydova E, Moen A, Olsen JV, Thiede B, Gleizes PE, Leidel SA, Falnes PØ.
Human METTL18 is a histidine-specific methyltransferase that targets RPL3 and affects ribosome biogenesis and function
Nucleic Acids Res, 49, 3185-3203
2021 Apr OPEN ACCESS - Le Goff S, Boussaid I, Floquet C, Raimbault A, Hatin I, Andrieu-Soler C, Salma M, Leduc M, Gautier EF, Guyot B, d'Allard D, Montel-Lehry N, Ducamp S, Houvert A, Guillonneau F, Giraudier S, Cramer-Bordé E, Morlé F, Diaz JJ, Hermine O, Taylor N, Kinet S, Verdier F, Padua RA, Mohandas N, Gleizes PE, Soler E, Mayeux P, Fontenay M.
p53 activation during ribosome biogenesis regulates normal erythroid differentiation
Blood, 137:89-102
2021 Jan - Delavoie F, Royer C, Gasman S, Vitale N, Chasserot-Golaz S .
Transmission Electron Microscopy and Tomography on Plasma Membrane Sheets to Study Secretory Docking
Methods Mol Biol. 2233:301-309
2021 Jan - Shayan R, Rinaldi D, Larburu N, Plassart L, Balor S, Bouyssié D, Lebaron S, Marcoux J, Gleizes PE, Plisson-Chastang C.
Good Vibrations: Structural Remodeling of Maturing Yeast Pre-40S Ribosomal Particles Followed by Cryo-Electron Microscopy
Molecules, 25. pii: E1125
2020 Mar OPEN ACCESS - Benyelles M, O'Donohue MF, Kermasson L, Lainey E, Borie R, Lagresle-Peyrou C, Nunes H, Cazelles C, Fourrage C, Ollivier E, Marcais A, Gamez AS, Morice-Picard F, Caillaud D, Pottier N, Ménard C, Ba I, Fernandes A, Crestani B, de Villartay JP, Gleizes PE, Callebaut I, Kannengiesser C, Revy P.
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome
Hum Mol Genet, pii: ddaa011
2020 Jan - Lezzerini M, Penzo M, O'Donohue MF, Marques Dos Santos Vieira C, Saby M, Elfrink HL, Diets IJ, Hesse AM, Couté Y, Gastou M, Nin-Velez A, Nikkels PGJ, Olson AN, Zonneveld-Huijssoon E, Jongmans MCJ, Zhang G, van Weeghel M, Houtkooper RH, Wlodarski MW, Kuiper RP, Bierings MB, van der Werff Ten Bosch J, Leblanc T, Montanaro L, Dinman JD, Da Costa L, Gleizes PE, MacInnes AW.
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism
Nucleic Acids Res, pii: gkz1042
2019 Dec OPEN ACCESS - Pinto R, Vågbø CB, Jakobsson ME, Kim Y, Baltissen MP, O'Donohue MF, Guzmán UH, Małecki JM, Wu J, Kirpekar F, Olsen JV, Gleizes PE, Vermeulen M, Leidel SA, Slupphaug G, Falnes PØ.
The human methyltransferase ZCCHC4 catalyses N6-methyladenosine modification of 28S ribosomal RNA
Nucleic Acids Res, pii: gkz1147
2019 Dec OPEN ACCESS - Le Caignec C, Ory B, Lamoureux F, O'Donohue MF, Orgebin E, Lindenbaum P, Téletchéa S, Saby M, Hurst A, Nelson K, Gilbert SR, Wilnai Y, Zeitlin L, Segev E, Tesfaye R, Nizon M, Cogne B, Bezieau S, Geoffroy L, Hamel A, Mayrargue E, de Courtivron B, Decock-Giraudaud A, Charrier C, Pichon O, Retière C, Redon R, Pepler A, McWalter K, Da Costa L, Toutain A, Gleizes PE, Baud'huin M, Isidor B..
RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature
Am J Hum Genet, pii: S0002-9297(19)30364-7
2019 Oct - Mitterer V, Shayan R, Ferreira-Cerca S, Murat G, Enne T, Rinaldi D, Weigl S, Omanic H, Gleizes PE, Kressler D, Plisson-Chastang C, Pertschy B.
Conformational proofreading of distant 40S ribosomal subunit maturation events by a long-range communication mechanism
Nature Commun, 10(1):2754
2019 Jun OPEN ACCESS - Benyelles M, Episkopou H, O'Donohue MF, Kermasson L, Frange P, Poulain F, Burcu Belen F, Polat M, Bole-Feysot C, Langa-Vives F, Gleizes PE, de Villartay JP, Callebaut I, Decottignies A, Revy P.
Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models
EMBO Mol Med, pii: e10201
2019 Jun OPEN ACCESS - O'Connell AE, Gerashchenko MV, O'Donohue MF, Rosen SM, Huntzinger E, Gleeson D, Galli A, Ryder E, Cao S, Murphy Q, Kazerounian S, Morton SU, Schmitz-Abe K, Gladyshev VN, Gleizes PE, Séraphin B, Agrawal PB.
Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation
PLoS Genet, 15:e1007917
2019 Feb OPEN ACCESS - Gabel M, Delavoie F, Royer C, Tahouly T, Gasman S, Bader MF, Vitale N, Chasserot-Golaz S.
Phosphorylation cycling of Annexin A2 Tyr23 is critical for calcium-regulated exocytosis in neuroendocrine cells
Biochim Biophys Acta Mol Cell Res, pii: S0167-4889(18)30542-1
2019 Jan - Delavoie F, Soldan V, Rinaldi D, Dauxois JY, Gleizes PE.
The path of pre-ribosomes through the nuclear pore complex revealed by electron tomography
Nature Commun, 10:497
2019 Jan OPEN ACCESS - Cerezo E, Plisson-Chastang C, Henras AK, Lebaron S, Gleizes PE, O'Donohue MF, Romeo Y, Henry Y.
Maturation of pre-40S particles in yeast and humans
WIREs RNA, 10(1):e1516
2019 Jan - Ulirsch JC, Verboon JM, Kazerounian S, Guo MH, Yuan D, Ludwig LS, Handsaker RE, Abdulhay NJ, Fiorini C, Genovese G, Lim ET, Cheng A, Cummings BB, Chao KR, Beggs AH, Genetti CA, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Vlachos A, Lipton JM, Atsidaftos E, Glader B, Narla A, Gleizes PE, O'Donohue MF, Montel-Lehry N, Amor DJ, McCarroll SA, O'Donnell-Luria AH, Gupta N, Gabriel SB, MacArthur DG, Lander ES, Lek M, Da Costa L, Nathan DG, Korostelev AA, Do R, Sankaran VG, Gazda HT.
The Genetic Landscape of Diamond-Blackfan Anemia
Am J Hum Genet. pii: S0002-9297(18)30403-8
2018 Nov doi: 10.1016/j.ajhg.2018.10.027 - Aubert M, O'Donohue MF, Lebaron S, Gleizes PE.
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases
Biomolecules, 8, 123
2018 Oct OPEN ACCESS - Joret C, Capeyrou R, Belhabich-Baumas K, Plisson-Chastang C, Ghandour R, Humbert O, Fribourg S, Leulliot N, Lebaron S, Henras AK, Henry Y.
The Npa1p complex chaperones the assembly of the earliest eukaryotic large ribosomal subunit precursor
PLoS Genet. 14:e1007597
2018 Aug OPEN ACCESS. doi: 10.1371/journal.pgen.1007597 - Bennett AH, O'Donohue MF, Gundry SR, Chan AT, Widrick J, Draper I, Chakraborty A, Zhou Y, Zon LI, Gleizes PE, Beggs AH, Gupta VA.
RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes
PLoS Genet. 14(3):e1007226
2018 Mar OPEN ACCESS. doi: 10.1371/journal.pgen.1007226 - Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainman I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, LeBlanc T, Niemeyer C, Gleizes PE, MacInnes AW.
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia
Haematologica
2018 Mar OPEN ACCESS. doi: 10.3324/haematol.2017.177980 - Chakraborty A, Uechi T, Nakajima Y, Gazda HT, O'Donohue MF, Gleizes PE, Kenmochi N.
Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models
Biochem Biophys Res Commun, 495, 1839-1845
2018 Jan doi: 10.1016/j.bbrc.2017.12.019 - Chapuy-Regaud S, Dubois M, Plisson-Chastang C, Bonnefois T, Lhomme S, Bertrand-Michel J, You B, Simoneau S, Gleizes PE, Flan B, Abravanel F, Izopet J.
Characterization of the lipid envelope of exosome encapsulated HEV particles protected from the immune response
Biochimie, 141, 70-79
2017 Oct doi: 10.1016/j.biochi.2017.05.003 - Belhabich-Baumas K, Joret C, Jády BE, Plisson-Chastang C, Shayan R, Klopp C, Henras AK, Henry Y, Mougin A.
The Rio1p ATPase hinders premature entry into translation of late pre-40S pre-ribosomal particles
Nucleic Acids Res, 45, 10824-10836
2017 Oct OPEN ACCESS, doi: 10.1093/nar/gkx734 - Da Costa L, O'Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW.
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience
Eur J Med Genet, S1769-7212(17)30505-0
2017 Oct OPEN ACCESS, doi: 10.1016/j.ejmg.2017.10.017 - Montellese C, Montel-Lehry N, Henras AK, Kutay U, Gleizes PE, O'Donohue MF.
Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation
Nucleic Acids Res, 45, 6822-6836
2017 Apr OPEN ACCESS doi: 10.1093/nar/gkx253 - Henras AK, Plisson-Chastang C, Humbert O, Romeo Y, Henry Y.
Synthesis, Function, and Heterogeneity of snoRNA-Guided Posttranscriptional Nucleoside Modifications in Eukaryotic Ribosomal RNAs
Enzymes, 41, 169-213
2017 Apr OPEN ACCESS, doi: 10.1016/bs.enz.2017.03.007 - Paolini NA, Attwood M, Sondalle SB, Vieira CMDS, van Adrichem AM, di Summa FM, O'Donohue MF, Gleizes PE, Rachuri S, Briggs JW, Fischer R, Ratcliffe PJ, Wlodarski MW, Houtkooper RH, von Lindern M, Kuijpers TW, Dinman JD, Baserga SJ, Cockman ME, MacInnes AW.
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism
Am J Hum Genet, 100, 506-522
2017 Mar OPEN ACCESS, doi: 10.1016/j.ajhg.2017.01.034 - Larburu N, Montellese C, O'Donohue MF, Kutay U, Gleizes PE, Plisson-Chastang C.
Structure of a human pre-40S particle points to a role for RACK1 in the final steps of 18S rRNA processing
Nucleic Acids Res, 44, 8465-8478
2016 Sep OPEN ACCESS DOI: 10.1093/nar/gkw714 - Sloan KE, Gleizes PE, Bohnsack MT.
Nucleocytoplasmic transport of RNAs and RNA-protein complexes
J Mol Biol, 28, 2040-2059
2016 May OPEN ACCESS - Bailly A, Perrin A, Bou Malhab LJ, Pion E, Larance M, Nagala M, Smith P, O'Donohue MF, Gleizes PE, Zomerdijk J, Lamond AI, Xirodimas DP.
The NEDD8 inhibitor MLN4924 increases the size of the nucleolus and activates p53 through the ribosomal-Mdm2 pathway
Oncogene, 35, 415-426
2016 Jan - Plisson-Chastang C, Larburu N, Gleizes PE.
Ribosomal 60S-subunit production: the final scene
Nat Struct Mol Biol. 22, 837–838
2015 Nov - Henras A, O’Donohue MF, Plisson-Chastang C, Chakraborty A, Gleizes PE.
An overview of pre-rRNA processing in eukaryotes
WIREs RNA, 6, 225-242
2015 Mar OPEN ACCESS - Nieminen TT, O'Donohue MF, Wu Y, Lohi H, Scherer SW, Paterson AD, Ellonen P, Abdel-Rahman WM, Valo S, Mecklin JP, Järvinen HJ, Gleizes PE, Peltomäki P.
Germline mutation of RPS20, a ribosomal protein gene, predisposes to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency
Gastroenterology, 147, 595-598
2014 Sep - Landowski M, O’Donohue MF, Buros C, Ghazvinian R, Montel-Lehry N, Vlachos A, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Beggs AH, Gleizes PE, Gazda HT.
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia
Hum Genet, 132, 1265-1274
2013 Nov - Preti M, O’Donohue MF, Montel-Lehry N, Bortolin-Cavaille ML, Choesmel V, Gleizes PE.
Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA
Nucleic Acids Res. 41, 4709-4723
2013 Apr OPEN ACCES - Ohmayer U, Gamalinda M, Sauert M, Ossowski J, Poll G, Linnemann J, Hierlmeier T, Perez-Fernandez J, Kumcuoglu B, Leger-Silvestre I, Faubladier M, Griesenbeck J, Woolford J, Tschochner H, Milkereit P.
Studies on the assembly characteristics of large subunit ribosomal proteins in S. cerevisae
PLoS ONE. 8, e68412.
2013 Jan OPEN ACCESS - Gazda HT, Preti M, Sheen MR, O’Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, Newburger PE, Niewiadomska E, Matysiak M, Glader B, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH .
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia
Hum Mutat. 33, 1037-1044
2012 Jul FREE ACCESS - Carron C, Balor S, Delavoie F, Plisson-Chastang C, Faubladier M, Gleizes PE, O’Donohue MF.
Post-mitotic dynamics of pre-nucleolar bodies is driven by pre-rRNA processing
J Cell Sci. 125, 4532-4542
2012 Jan FREE ACCESS - 2012 Jan Baumas K, Soudet J, Caizergues-Ferrer M, Faubladier M, Henry Y, Mougin A (2012) Human RioK3 is a novel component of cytoplasmic pre-40S pre-ribosomal particles. RNA Biol. 9, 162-174.
- 2012 Jan Moniz H, Gastou M, Leblanc T, Hurtaud C, Cretien A, Lecluse Y, Raslova H, Larghero J, Croisille L, Faubladier M, Bluteau O, Lordier L, Tchernia G, Vainchenker W, Mohandas N, Da Costa L (2012) Primary hematopoietic cells from DBA patients with mutations in RPL11 and RPS19 genes exhibit distinct erythroid phenotype in vitro. Cell Death Dis. 3, e356.
- Ellis SR, Gleizes PE.
Diamond Blackfan anemia: ribosomal proteins going rogue
Semin Hematol. 48, 89-96
2011 Apr - Carron C, O’Donohue MF, Choesmel V, Faubladier M, Gleizes PE.
Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals
Nucleic Acids Res. 39, 280-291
2011 Jan OPEN ACCESS - O’Donohue MF, Choesmel V, Faubladier M, Fichant G, Gleizes PE.
Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits
J Cell Biol. 190, 853-866
2010 Apr FREE ACCESS, DOI: 10.1083/jcb.201005117 - Doherty L, Sheen MR, Vlachos A, Choesmel V, O’Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT.
Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia
Am J Hum Genet. 86, 222-228
2010 Feb FREE ACCESS - 2010 Jan Bellemer C, Chabosseau P, Gallardo F, Gleizes PE, Stahl G (2010) Genetic interactions show the importance of rRNA modification machinery for the role of Rps15p during ribosome biogenesis in S. cerevisiae. PLoS ONE. 5, e10472.
- 2009 Jan Zemp I, Wild T, O’Donohue MF, Wandrey F, Widmann B, Gleizes PE, Kutay U (2009) Distinct cytoplasmic maturation steps of 40S ribosomal subunit precursors require hRio2. J Cell Biol. 185, 1167-1180.
- 2009 Jan Aguissa-Toure AH, Da Costa L, Leblanc T, Tchernia G, Fribourg S, Gleizes PE (2009) [Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis]. Med Sci (Paris). 25, 69-76.
