Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Anne Boland-Auge, Gaël Nicolas, Olivier Quenez, Serdal Gungor, Luis Seabra, Robert Olaso, Viorica Chelban, M Natalia Zanetti, Juan A Botía, Stephanie Efthymiou, Rita Horvath, Firdous Abdulwahab, Fowzan S Alkuraya, Nicholas W Wood, Thomas Arnesen, Semra Hiz Kurul, Andreas M Ernst, Giovanni Zifarelli, Lucia V Schottlaender, Jean-François Deleuze, Reza Maroofian, Yanick J Crow, Mathieu Anheim, David Murphy, Jana Vandrovcova, Peter Bauer, Vincenzo Salpietro, James E Rothman, Meriel McEntagart, Henry Houlden, Hanns Lochmuller, Henriette Aksnes, Lauren C LaMonica, Anette Siggervåg, Perrine Devic, Hanan E Shamseldin, Anne-Claire Richard, Antoine Bonnevalle, Rauan Kaiyrzhanov, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M Brønstad, Sandrine Tury, Andrés Moreno De Luca, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Jean-Luc Battini, Rojan İpek, Sahar I Da'as, Khalid A Fakhro, Alicia Gómez-Pascual
Nature communications 2024;15(1):2269