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Items: 1 to 50 of 61

1.

The Genetic Landscape of Diamond-Blackfan Anemia.

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.

Am J Hum Genet. 2019 Feb 7;104(2):356. doi: 10.1016/j.ajhg.2018.12.011. No abstract available.

2.

Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation.

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.

PLoS Genet. 2019 Feb 1;15(2):e1007917. doi: 10.1371/journal.pgen.1007917. eCollection 2019 Feb.

3.

The path of pre-ribosomes through the nuclear pore complex revealed by electron tomography.

Delavoie F, Soldan V, Rinaldi D, Dauxois JY, Gleizes PE.

Nat Commun. 2019 Jan 30;10(1):497. doi: 10.1038/s41467-019-08342-7.

4.

The Genetic Landscape of Diamond-Blackfan Anemia.

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.

Am J Hum Genet. 2018 Dec 6;103(6):930-947. doi: 10.1016/j.ajhg.2018.10.027. Epub 2018 Nov 29. Erratum in: Am J Hum Genet. 2019 Feb 7;104(2):356.

PMID:
30503522
5.

Maturation of pre-40S particles in yeast and humans.

Cerezo E, Plisson-Chastang C, Henras AK, Lebaron S, Gleizes PE, O'Donohue MF, Romeo Y, Henry Y.

Wiley Interdiscip Rev RNA. 2019 Jan;10(1):e1516. doi: 10.1002/wrna.1516. Epub 2018 Nov 8. Review.

PMID:
30406965
6.

Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases.

Aubert M, O'Donohue MF, Lebaron S, Gleizes PE.

Biomolecules. 2018 Oct 24;8(4). pii: E123. doi: 10.3390/biom8040123. Review.

7.

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.

Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW.

Haematologica. 2018 Jun;103(6):949-958. doi: 10.3324/haematol.2017.177980. Epub 2018 Mar 29.

8.

RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes.

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.

PLoS Genet. 2018 Mar 8;14(3):e1007226. doi: 10.1371/journal.pgen.1007226. eCollection 2018 Mar.

9.

Cross talk between TP53 and c-Myc in the pathophysiology of Diamond-Blackfan anemia: Evidence from RPL11-deficient in vivo and in vitro models.

Chakraborty A, Uechi T, Nakajima Y, Gazda HT, O'Donohue MF, Gleizes PE, Kenmochi N.

Biochem Biophys Res Commun. 2018 Jan 8;495(2):1839-1845. doi: 10.1016/j.bbrc.2017.12.019. Epub 2017 Dec 7.

PMID:
29225165
10.

Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.

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.

Eur J Med Genet. 2018 Nov;61(11):664-673. doi: 10.1016/j.ejmg.2017.10.017. Epub 2017 Oct 26. Review.

11.

Characterization of the lipid envelope of exosome encapsulated HEV particles protected from the immune response.

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.

Biochimie. 2017 Oct;141:70-79. doi: 10.1016/j.biochi.2017.05.003. Epub 2017 May 5.

PMID:
28483690
12.

Poly(A)-specific ribonuclease is a nuclear ribosome biogenesis factor involved in human 18S rRNA maturation.

Montellese C, Montel-Lehry N, Henras AK, Kutay U, Gleizes PE, O'Donohue MF.

Nucleic Acids Res. 2017 Jun 20;45(11):6822-6836. doi: 10.1093/nar/gkx253.

13.

A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.

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.

Am J Hum Genet. 2017 Mar 2;100(3):506-522. doi: 10.1016/j.ajhg.2017.01.034.

14.

Structure of a human pre-40S particle points to a role for RACK1 in the final steps of 18S rRNA processing.

Larburu N, Montellese C, O'Donohue MF, Kutay U, Gleizes PE, Plisson-Chastang C.

Nucleic Acids Res. 2016 Sep 30;44(17):8465-78. doi: 10.1093/nar/gkw714. Epub 2016 Aug 16.

15.

Ribosomal 60S-subunit production: the final scene.

Plisson-Chastang C, Larburu N, Gleizes PE.

Nat Struct Mol Biol. 2015 Nov;22(11):837-8. doi: 10.1038/nsmb.3121. No abstract available.

PMID:
26581515
16.

Nucleocytoplasmic Transport of RNAs and RNA-Protein Complexes.

Sloan KE, Gleizes PE, Bohnsack MT.

J Mol Biol. 2016 May 22;428(10 Pt A):2040-59. doi: 10.1016/j.jmb.2015.09.023. Epub 2015 Oct 3. Review.

PMID:
26434509
17.

The NEDD8 inhibitor MLN4924 increases the size of the nucleolus and activates p53 through the ribosomal-Mdm2 pathway.

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.

Oncogene. 2016 Jan 28;35(4):415-26. doi: 10.1038/onc.2015.104. Epub 2015 Apr 13.

PMID:
25867069
18.

An overview of pre-ribosomal RNA processing in eukaryotes.

Henras AK, Plisson-Chastang C, O'Donohue MF, Chakraborty A, Gleizes PE.

Wiley Interdiscip Rev RNA. 2015 Mar-Apr;6(2):225-42. doi: 10.1002/wrna.1269. Epub 2014 Oct 27. Review.

19.

Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.

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.

Gastroenterology. 2014 Sep;147(3):595-598.e5. doi: 10.1053/j.gastro.2014.06.009. Epub 2014 Jun 15.

20.

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.

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.

Hum Genet. 2013 Nov;132(11):1265-74. doi: 10.1007/s00439-013-1326-z. Epub 2013 Jun 30.

21.

Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA.

Preti M, O'Donohue MF, Montel-Lehry N, Bortolin-Cavaillé ML, Choesmel V, Gleizes PE.

Nucleic Acids Res. 2013 Apr;41(8):4709-23. doi: 10.1093/nar/gkt160. Epub 2013 Mar 12.

22.

Post-mitotic dynamics of pre-nucleolar bodies is driven by pre-rRNA processing.

Carron C, Balor S, Delavoie F, Plisson-Chastang C, Faubladier M, Gleizes PE, O'Donohue MF.

J Cell Sci. 2012 Oct 1;125(Pt 19):4532-42. doi: 10.1242/jcs.106419. Epub 2012 Jul 5.

23.

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.

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.

Hum Mutat. 2012 Jul;33(7):1037-44. doi: 10.1002/humu.22081. Epub 2012 Apr 16.

24.

Diamond Blackfan anemia: ribosomal proteins going rogue.

Ellis SR, Gleizes PE.

Semin Hematol. 2011 Apr;48(2):89-96. doi: 10.1053/j.seminhematol.2011.02.005. Review.

PMID:
21435505
25.

Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits.

O'Donohue MF, Choesmel V, Faubladier M, Fichant G, Gleizes PE.

J Cell Biol. 2010 Sep 6;190(5):853-66. doi: 10.1083/jcb.201005117.

26.

Analysis of two human pre-ribosomal factors, bystin and hTsr1, highlights differences in evolution of ribosome biogenesis between yeast and mammals.

Carron C, O'Donohue MF, Choesmel V, Faubladier M, Gleizes PE.

Nucleic Acids Res. 2011 Jan;39(1):280-91. doi: 10.1093/nar/gkq734. Epub 2010 Aug 30.

27.

Genetic interactions show the importance of rRNA modification machinery for the role of Rps15p during ribosome biogenesis in S. cerevisiae.

Bellemer C, Chabosseau P, Gallardo F, Gleizes PE, Stahl G.

PLoS One. 2010 May 3;5(5):e10472. doi: 10.1371/journal.pone.0010472.

28.

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

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.

Am J Hum Genet. 2010 Feb 12;86(2):222-8. doi: 10.1016/j.ajhg.2009.12.015. Epub 2010 Jan 28. Erratum in: Am J Hum Genet. 2010 Apr 9;86(4):655.

29.

Distinct cytoplasmic maturation steps of 40S ribosomal subunit precursors require hRio2.

Zemp I, Wild T, O'Donohue MF, Wandrey F, Widmann B, Gleizes PE, Kutay U.

J Cell Biol. 2009 Jun 29;185(7):1167-80. doi: 10.1083/jcb.200904048.

30.

[Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis].

Aguissa-Touré AH, Da Costa L, Leblanc T, Tchernia G, Fribourg S, Gleizes PE.

Med Sci (Paris). 2009 Jan;25(1):69-76. doi: 10.1051/medsci/200925169. Review. French.

31.

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

Gazda HT, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH.

Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.

32.

Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.

Crétien A, Hurtaud C, Moniz H, Proust A, Marie I, Wagner-Ballon O, Choesmel V, Gleizes PE, Leblanc T, Delaunay J, Tchernia G, Mohandas N, Da Costa L.

Haematologica. 2008 Nov;93(11):1627-34. doi: 10.3324/haematol.13023. Epub 2008 Sep 2.

33.

RPS19 mutations in patients with Diamond-Blackfan anemia.

Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I.

Hum Mutat. 2008 Jul;29(7):911-20. doi: 10.1002/humu.20752. Review.

PMID:
18412286
34.

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.

Choesmel V, Fribourg S, Aguissa-Touré AH, Pinaud N, Legrand P, Gazda HT, Gleizes PE.

Hum Mol Genet. 2008 May 1;17(9):1253-63. doi: 10.1093/hmg/ddn015. Epub 2008 Jan 29.

PMID:
18230666
35.

Molecular basis of Diamond-Blackfan anemia: structure and function analysis of RPS19.

Gregory LA, Aguissa-Touré AH, Pinaud N, Legrand P, Gleizes PE, Fribourg S.

Nucleic Acids Res. 2007;35(17):5913-21. Epub 2007 Aug 28.

36.

Impaired ribosome biogenesis in Diamond-Blackfan anemia.

Choesmel V, Bacqueville D, Rouquette J, Noaillac-Depeyre J, Fribourg S, Crétien A, Leblanc T, Tchernia G, Da Costa L, Gleizes PE.

Blood. 2007 Feb 1;109(3):1275-83. Epub 2006 Oct 19.

37.

Roles of eukaryotic ribosomal proteins in maturation and transport of pre-18S rRNA and ribosome function.

Ferreira-Cerca S, Pöll G, Gleizes PE, Tschochner H, Milkereit P.

Mol Cell. 2005 Oct 28;20(2):263-75.

38.

Specific Role for Yeast Homologs of the Diamond Blackfan Anemia-associated Rps19 Protein in Ribosome Synthesis.

Léger-Silvestre I, Caffrey JM, Dawaliby R, Alvarez-Arias DA, Gas N, Bertolone SJ, Gleizes PE, Ellis SR.

J Biol Chem. 2005 Nov 18;280(46):38177-85. Epub 2005 Sep 12.

39.

Nuclear export and cytoplasmic processing of precursors to the 40S ribosomal subunits in mammalian cells.

Rouquette J, Choesmel V, Gleizes PE.

EMBO J. 2005 Aug 17;24(16):2862-72. Epub 2005 Jul 28.

40.

Expression of truncated latent TGF-beta-binding protein modulates TGF-beta signaling.

Mazzieri R, Jurukovski V, Obata H, Sung J, Platt A, Annes E, Karaman-Jurukovska N, Gleizes PE, Rifkin DB.

J Cell Sci. 2005 May 15;118(Pt 10):2177-87. Epub 2005 May 3.

41.

The ribosomal protein Rps15p is required for nuclear exit of the 40S subunit precursors in yeast.

Léger-Silvestre I, Milkereit P, Ferreira-Cerca S, Saveanu C, Rousselle JC, Choesmel V, Guinefoleau C, Gas N, Gleizes PE.

EMBO J. 2004 Jun 16;23(12):2336-47. Epub 2004 May 27.

42.

Sequential protein association with nascent 60S ribosomal particles.

Saveanu C, Namane A, Gleizes PE, Lebreton A, Rousselle JC, Noaillac-Depeyre J, Gas N, Jacquier A, Fromont-Racine M.

Mol Cell Biol. 2003 Jul;23(13):4449-60.

43.

Late cytoplasmic maturation of the small ribosomal subunit requires RIO proteins in Saccharomyces cerevisiae.

Vanrobays E, Gelugne JP, Gleizes PE, Caizergues-Ferrer M.

Mol Cell Biol. 2003 Mar;23(6):2083-95.

44.

Rlp7p is associated with 60S preribosomes, restricted to the granular component of the nucleolus, and required for pre-rRNA processing.

Gadal O, Strauss D, Petfalski E, Gleizes PE, Gas N, Tollervey D, Hurt E.

J Cell Biol. 2002 Jun 10;157(6):941-51. Epub 2002 Jun 10.

45.

Ultrastructural localization of rRNA shows defective nuclear export of preribosomes in mutants of the Nup82p complex.

Gleizes PE, Noaillac-Depeyre J, Léger-Silvestre I, Teulières F, Dauxois JY, Pommet D, Azum-Gelade MC, Gas N.

J Cell Biol. 2001 Dec 10;155(6):923-36. Epub 2001 Dec 10.

46.

Nog2p, a putative GTPase associated with pre-60S subunits and required for late 60S maturation steps.

Saveanu C, Bienvenu D, Namane A, Gleizes PE, Gas N, Jacquier A, Fromont-Racine M.

EMBO J. 2001 Nov 15;20(22):6475-84.

47.

Processing of 20S pre-rRNA to 18S ribosomal RNA in yeast requires Rrp10p, an essential non-ribosomal cytoplasmic protein.

Vanrobays E, Gleizes PE, Bousquet-Antonelli C, Noaillac-Depeyre J, Caizergues-Ferrer M, Gélugne JP.

EMBO J. 2001 Aug 1;20(15):4204-13.

48.

Assembly and functional organization of the nucleolus: ultrastructural analysis of Saccharomyces cerevisiae mutants.

Trumtel S, Léger-Silvestre I, Gleizes PE, Teulières F, Gas N.

Mol Biol Cell. 2000 Jun;11(6):2175-89.

49.

Hybrid and complex glycans are linked to the conserved N-glycosylation site of the third eight-cysteine domain of LTBP-1 in insect cells.

Rudd PM, Downing AK, Cadene M, Harvey DJ, Wormald MR, Weir I, Dwek RA, Rifkin DB, Gleizes PE.

Biochemistry. 2000 Feb 22;39(7):1596-603.

PMID:
10677208
50.

[Activation of latent TGF-beta. A required mechanism for vascular integrity].

Gleizes PE, Rifkin DB.

Pathol Biol (Paris). 1999 Apr;47(4):322-9. Review. French.

PMID:
10372400

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