EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Autor: Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G W, Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M, Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F, Manchester, David, Boyer, Philip J, Manzur, Adnan Y, Lourenco, Charles Marques, Pilz, Daniela T, Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K, Rogers, R Curtis, Ryan, Monique M, Brown, Natasha J, McLean, Catriona A, Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A, Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz

Publikováno v: Brain, 139(Part 3), 765-781. Oxford University Press
Brain
Byrne, S, Jansen, L, U-King-im, J M, Siddiqui, A, Lidov, H G W, Bodi, I, Smith, L, Mein, R, Cullup, T, Dionisi-Vici, C, Al-Gazali, L, Al-Owain, M, Bruwer, Z, Al Thihli, K, El-Garhy, R, Flanigan, K M, Manickam, K, Zmuda, E, Banks, W, Gershoni-Baruch, R, Mandel, H, Dagan, E, Raas-Rothschild, A, Barash, H, Filloux, F, Creel, D, Harris, M, Hamosh, A, Kölker, S, Ebrahimi-Fakhari, D, Hoffmann, G F, Manchester, D, Boyer, P J, Manzur, A Y, Lourenco, C M, Pilz, D T, Kamath, A, Prabhakar, P, Rao, V K, Rogers, R C, Ryan, M M, Brown, N J, McLean, C A, Said, E, Schara, U, Stein, A, Sewry, C, Travan, L, Wijburg, F A, Zenker, M, Mohammed, S, Fanto, M, Gautel, M & Jungbluth, H 2016, ' EPG5-related Vici syndrome : A paradigm of neurodevelopmental disorders with defective autophagy ', Brain, vol. 139, no. 3, pp. 765-781 . https://doi.org/10.1093/brain/awv393

Vici syndrome is a progressive neurodevelopmental multisystem disorder caused by mutations in the autophagy gene EPG5. Byrne et al. characterise the phenotype of 50 affected children, revealing callosal agenesis, cataracts, hypopigmentation, cardiomy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0432db0bdd661dc28cc6ec18a59027fa
https://pubmed.ncbi.nlm.nih.gov/27343258