Marie-Francoise O'Donohue

Employment

• CNRS Délégation Midi-Pyrénées Research Director (CNRS)
  2006 - Present

Education

• Université Claude Bernard Lyon 1 Faculté des Sciences et Technologies Ph.D.
  ? - 1988

Projects & Funding

Projects & funding information is unavailable.

Publications (62)

• The 3′–5′ exoribonuclease ISG20L2 contributes to 3′ terminus maturation of 18S and 28S ribosomal RNAs
  Nucleic Acids Research 2025 DOI: 10.1093/nar/gkaf1180
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• A nuclear protein quality control system for elimination of nucleolus-related inclusions
  The EMBO Journal 2024 DOI: 10.1038/s44318-024-00333-9
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• VEXAS anemia is a mosaic erythroblastopenia
  2024 DOI: 10.1101/2024.12.02.623560
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• An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants
  Florence Fellmann, Carol Saunders, Marie-Françoise O’Donohue +23 more
  JCI Insight 2024 DOI: 10.1172/jci.insight.172475
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• Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?
  Blood Cells, Molecules, and Diseases 2024 DOI: 10.1016/j.bcmd.2024.102838
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• HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia
  Blood 2022 DOI: 10.1182/blood.2021011846
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• Functionally impaired RPL8 variants associated with Diamond–Blackfan anemia and a Diamond–Blackfan anemia‐like phenotype
  Human Mutation 2022 DOI: 10.1002/humu.24323
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• Poly (A)-specific ribonuclease (PARN): More than just “mRNA stock clearing”
  Life Sciences 2021 DOI: 10.1016/j.lfs.2021.119953
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• The final step of 40S ribosomal subunit maturation is controlled by a dual key lock
  eLife 2021 DOI: 10.7554/elife.61254
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• Human METTL18 is a histidine-specific methyltransferase that targets RPL3 and affects ribosome biogenesis and function
  Nucleic Acids Research 2021 DOI: 10.1093/nar/gkab088
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• The final step of 40S ribosomal subunit maturation is controlled by a dual key lock
  [] 2020 DOI: 10.1101/2020.07.29.226936
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• NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal–Hreidarsson syndrome
  Human Molecular Genetics 2020 DOI: 10.1093/hmg/ddaa011
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• Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism
  Nucleic Acids Research 2020 DOI: 10.1093/nar/gkz1042
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• The human methyltransferase ZCCHC4 catalyses N6-methyladenosine modification of 28S ribosomal RNA
  Nucleic Acids Research 2020 DOI: 10.1093/nar/gkz1147
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• RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature
  The American Journal of Human Genetics 2019 DOI: 10.1016/j.ajhg.2019.09.024
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• Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models
  EMBO Molecular Medicine 2019 DOI: 10.15252/emmm.201810201
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• Mammalian Hbs1L deficiency causes congenital anomalies and developmental delay associated with Pelota depletion and 80S monosome accumulation
  PLOS Genetics 2019 DOI: 10.1371/journal.pgen.1007917
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• Maturation of pre‐40S particles in yeast and humans
  Wiley Interdisciplinary Reviews: RNA 2019 DOI: 10.1002/wrna.1516
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• The Genetic Landscape of Diamond-Blackfan Anemia
  The American Journal of Human Genetics 2018 DOI: 10.1016/j.ajhg.2018.10.027
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• Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience
  European Journal of Medical Genetics 2018 DOI: 10.1016/j.ejmg.2017.10.017
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