Search Results - "Gleizes PE"

The 3'-5' exoribonuclease ISG20L2 contributes to 3' terminus maturation of 18S and 28S ribosomal RNAs.

Authors: Aubert M Zuber H Mommert-Tripon M et al.

Source: Nucleic acids research [Nucleic Acids Res] 2025 Nov 13; Vol. 53 (21).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cells.

Authors: Bertrand A Page SL Pirabakaran V et al.

Source: Molecular medicine (Cambridge, Mass.) [Mol Med] 2026 Apr 06; Vol. 32 (1). Date of Electronic Publication: 2026 Apr 06.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 9501023 Publication Model: Electronic Cited Medium: Internet ISSN: 1528-3658 (Electronic) Linking ISSN: 10761551 NLM ISO Abbreviation: Mol Med Subsets: MEDLINE

A nuclear protein quality control system for elimination of nucleolus-related inclusions.

Authors: Brunello L Polanowska J Le Tareau L et al.

Source: The EMBO journal [EMBO J] 2025 Feb; Vol. 44 (3), pp. 801-823. Date of Electronic Publication: 2024 Dec 17.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

VEXAS anemia is a mosaic erythroblastopenia.

Authors: Rodrigues F Hardouin G El Hoss S et al.

Source: Blood [Blood] 2025 Sep 19. Date of Electronic Publication: 2025 Sep 19.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 7603509 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1528-0020 (Electronic) Linking ISSN: 00064971 NLM ISO Abbreviation: Blood Subsets: MEDLINE

Off-axis electron holography of unstained bacteriophages: Towards electrostatic potential measurement of biological samples.

Authors: Karim E Gatel C Leforestier A et al.

Source: Journal of structural biology [J Struct Biol] 2025 Mar; Vol. 217 (1), pp. 108169. Date of Electronic Publication: 2025 Jan 14.

Publication Type: Journal Article

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9011206 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-8657 (Electronic) Linking ISSN: 10478477 NLM ISO Abbreviation: J Struct Biol Subsets: MEDLINE

Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.

Authors: Lebaron S O'Donohue MF Smith SC et al.

Source: Human mutation [Hum Mutat] 2022 Mar; Vol. 43 (3), pp. 389-402. Date of Electronic Publication: 2022 Jan 23.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

SURF2 is a MDM2 antagonist in triggering the nucleolar stress response.

Authors: Tagnères S Santo PE Radermecker J et al.

Source: Nature communications [Nat Commun] 2024 Sep 27; Vol. 15 (1), pp. 8404. Date of Electronic Publication: 2024 Sep 27.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.

Authors: Fellmann F Saunders C O'Donohue MF et al.

Source: JCI insight [JCI Insight] 2024 Aug 01; Vol. 9 (17). Date of Electronic Publication: 2024 Aug 01.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?

Authors: Da Costa L Mohandas N David-NGuyen L et al.

Source: Blood cells, molecules & diseases [Blood Cells Mol Dis] 2024 May; Vol. 106, pp. 102838. Date of Electronic Publication: 2024 Feb 17.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9509932 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0961 (Electronic) Linking ISSN: 10799796 NLM ISO Abbreviation: Blood Cells Mol Dis Subsets: MEDLINE

Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statement.

Authors: Wlodarski MW Vlachos A Farrar JE et al.

Corporate Authors: Wlodarski MW Vlachos A Farrar JE et al.

Source: The Lancet. Haematology [Lancet Haematol] 2024 May; Vol. 11 (5), pp. e368-e382.

Publication Type: Journal Article; Consensus Statement

Journal Info: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101643584 Publication Model: Print Cited Medium: Internet ISSN: 2352-3026 (Electronic) Linking ISSN: 23523026 NLM ISO Abbreviation: Lancet Haematol Subsets: MEDLINE

The final step of 40S ribosomal subunit maturation is controlled by a dual key lock.

Authors: Plassart L Shayan R Montellese C et al.

Source: ELife [Elife] 2021 Apr 28; Vol. 10. Date of Electronic Publication: 2021 Apr 28.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Human METTL18 is a histidine-specific methyltransferase that targets RPL3 and affects ribosome biogenesis and function.

Authors: Małecki JM Odonohue MF Kim Y et al.

Source: Nucleic acids research [Nucleic Acids Res] 2021 Apr 06; Vol. 49 (6), pp. 3185-3203.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.

Authors: Benyelles M O'Donohue MF Kermasson L et al.

Source: Human molecular genetics [Hum Mol Genet] 2020 Apr 15; Vol. 29 (6), pp. 907-922.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Good Vibrations: Structural Remodeling of Maturing Yeast Pre-40S Ribosomal Particles Followed by Cryo-Electron Microscopy.

Authors: Shayan R Rinaldi D Larburu N et al.

Source: Molecules (Basel, Switzerland) [Molecules] 2020 Mar 03; Vol. 25 (5). Date of Electronic Publication: 2020 Mar 03.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 100964009 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-3049 (Electronic) Linking ISSN: 14203049 NLM ISO Abbreviation: Molecules Subsets: MEDLINE

The human methyltransferase ZCCHC4 catalyses N6-methyladenosine modification of 28S ribosomal RNA.

Authors: Pinto R Vågbø CB Jakobsson ME et al.

Source: Nucleic acids research [Nucleic Acids Res] 2020 Jan 24; Vol. 48 (2), pp. 830-846.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.

Authors: Lezzerini M Penzo M O'Donohue MF et al.

Source: Nucleic acids research [Nucleic Acids Res] 2020 Jan 24; Vol. 48 (2), pp. 770-787.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models.

Authors: Benyelles M Episkopou H O'Donohue MF et al.

Source: EMBO molecular medicine [EMBO Mol Med] 2019 Jul; Vol. 11 (7), pp. e10201. Date of Electronic Publication: 2019 Jun 06.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Conformational proofreading of distant 40S ribosomal subunit maturation events by a long-range communication mechanism.

Authors: Mitterer V Shayan R Ferreira-Cerca S et al.

Source: Nature communications [Nat Commun] 2019 Jun 21; Vol. 10 (1), pp. 2754. Date of Electronic Publication: 2019 Jun 21.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: PubMed not MEDLINE

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

Authors: O'Connell AE Gerashchenko MV O'Donohue MF et al.

Source: PLoS genetics [PLoS Genet] 2019 Feb 01; Vol. 15 (2), pp. e1007917. Date of Electronic Publication: 2019 Feb 01 (Print Publication: 2019).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

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

Authors: Delavoie F Soldan V Rinaldi D et al.

Source: Nature communications [Nat Commun] 2019 Jan 30; Vol. 10 (1), pp. 497. Date of Electronic Publication: 2019 Jan 30.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE