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Showing 1–4 of 4 results
Advanced filters: Author: Fabien Touzot Clear advanced filters
  • The biosynthesis of N6-threonylcarbamoylated adenosine 37 in tRNA (t6A) involves the YRDC enzyme and the KEOPS complex. Here, the authors report mutations in YRDC and the KEOPS component GON7 in Galloway-Mowat syndrome and determine the crystal structure of a GON7-containg subcomplex that suggests a role in KEOPS complex stability.

    • Christelle Arrondel
    • Sophia Missoury
    • Géraldine Mollet
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-13
  • The importance of human innate lymphoid cells to normal human physiology is unclear. Vivier and colleagues find that immunodeficient patients ‘rescued’ with normal bone marrow can recover their T cells but not their innate lymphoid cells, yet remain entirely asymptomatic for nearly 40 years.

    • Frédéric Vély
    • Vincent Barlogis
    • Eric Vivier
    Research
    Nature Immunology
    Volume: 17, P: 1291-1299
  • The final report of the phase 1/2 lentiviral gene therapy trial in severe β-hemoglobinopathies, HGB-205, shows a long-term safety profile and sustained reduction of transfusion requirements in patients with β-thalassemia and of sickle cell crises in patients with sickle cell disease.

    • Elisa Magrin
    • Michaela Semeraro
    • Marina Cavazzana
    Research
    Nature Medicine
    Volume: 28, P: 81-88