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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Hui Hui Wong, Sze Hwee Seet, Michael Maier, Ayşe Gürel, Ricardo Moreno Traspas, Cheryl Lee, Shan Zhang, Beril Talim, Abigail Loh, Crystal Y. Chia, Tze Shin Teoh, Danielle Sng, Jarred W. Rensvold, Şule Ünal, Evgenia Shishkova, Ece Çepni, Fatima M. Nathan, Fernanda L. Sirota, Chao Liang, Neşe Yaralı, Pelin Özlem Şimşek‐Kiper, Tadahiro Mitani, Serdar Ceylaner, Ozlem Arman-Bilir, Hamdi Mbarek, Fatma Gümrük, Stéphanie Efthymiou, Deniz Uğurlu-Çimen, Danai Georgiadou, Kortessa Sotiropoulou, Henry Houlden, Franziska Paul, Davut Pehli̇van, Candice Lainé, Guoliang Chai, Nur Ain Ali, Siew Chin Choo, Soh Sok Keng, Bertrand Boisson, Elanur Yılmaz, Shifeng Xue, Joshua J. Coon, Thanh Thao Nguyen Ly, Naser Gilani, Dana Hasbini, Hülya Kayserili, Maha S. Zaki, Robert J. Isfort, Natalia Ordoñez, Kornélia Tripolszki, Peter Bauer, Nima Rezaei, Simin Seyedpour, Ghamar Taj Khotaei, Charles C. Bascom, Reza Maroofian, Myriam Châabouni, Afaf Alsubhi, Wafaa Eyaid, Sedat Işıkay, Joseph G. Gleeson, James R. Lupski, Jean‐Laurent Casanova, David J. Pagliarini, Nurten Akarsu, Sebastian Maurer‐Stroh, Arda Çetinkaya, Aida M. Bertoli‐Avella, Ajay S. Mathuru, Lena Ho, Frédéric Bard, Bruno Reversade

2021The American Journal of Human Genetics23 citationsDOIOpen Access PDF

Topics & Concepts

ZebrafishGlycogenBiologyMedicineChemistryEndocrinologyBiochemistryGeneMitochondrial Function and PathologyMetabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy | Litcius