Hashem Almousa, Sara A Lewis, Somayeh Bakhtiari, Sandra Hinz Nordlie, Alex Pagnozzi, Helen Magee, Stephanie Efthymiou, Jennifer A Heim, Patricia Cornejo, Maha S Zaki, Najwa Anwar, Shazia Maqbool, Fatima Rahman, Derek E Neilson, Anusha Vemuri, Sheng Chih Jin, Xiao-Ru Yang, Abolfazl Heidari, Koen van Gassen, Aurélien Trimouille, Christel Thauvin-Robinet, James Liu, Ange-Line Bruel, Hoda Tomoum, Mennatallah O Shata, Mais O Hashem, Mehran Beiraghi Toosi, Ehsan Ghayoor Karimiani, Gözde Yeşil, Lokesh Lingappa, Debangana Baruah, Farnoosh Ebrahimzadeh, Julien Van-Gils, Laurence Faivre, Mina Zamani, Hamid Galehdari, Saeid Sadeghian, Gholamreza Shariati, Rahema Mohammad, Jasper van der Smagt, Alya Qari, John B Vincent, A Micheil Innes, Ali Dursun, R Köksal Özgül, Halil Tuna Akar, Kaya Bilguvar, Cyril Mignot, Boris Keren, Claudia Raveli, Lydie Burglen, Alexandra Afenjar, Laura Donker Kaat, Marjon van Slegtenhorst, Fowzan Alkuraya, Henry Houlden, Sergio Padilla-Lopez, Reza Maroofian, Michael Sacher, Michael C Kruer
Highly conserved transport protein particle (TRAPP) complexes regulate subcellular trafficking pathways. Accurate protein trafficking has been increasingly recognized to be critically important for normal development, particularly in the nervous system. Variants in most TRAPP complex subunits have been found to lead to neurodevelopmental disorders with diverse but overlapping phenotypes. We expand on limited prior reports on TRAPPC6B with detailed clinical and neuroradiologic assessments, and studies on mechanisms of disease, and new types of variants...
September 15, 2023: Brain