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Showing 1–3 of 3 results
Advanced filters: Author: Snehal Nariya Clear advanced filters

  • The details of how the protein folding and degradation systems collaborate to combat potentially toxic non-native proteins are unknown. Here the authors perform systematic studies of missense and nonsense variants of the cytosolic aspartoacylase, ASPA, where loss-of-function variants are linked to Canavan disease.

    • Martin Grønbæk-Thygesen
    • Vasileios Voutsinos
    • Rasmus Hartmann-Petersen
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-18

  • Gene variants can affect folding and stability of the encoded protein. Here, the authors apply deep mutational scanning to provide genotype-phenotype information for 99% of the possible PRKN variants and reveal mechanistic details on how some variants cause loss-of-function and Parkinsons disease.

    • Lene Clausen
    • Vasileios Voutsinos
    • Rasmus Hartmann-Petersen
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-17

  • Genetic analysis of breakthrough infections in people vaccinated against HIV-1 show that vaccine efficacy increased by up to 80% against viruses carrying two mutations in Env V2, but also raises the possibility of population-level adaptation to the vaccine.

    • Morgane Rolland
    • Paul T. Edlefsen
    • Jerome H. Kim
    Research
    Nature
    Volume: 490, P: 417-420