Michael Maier
Genome Institute of Singapore
2 Papers
Michael Maier is an academic researcher from Genome Institute of Singapore. The author has contributed to research in topics: Zebrafish & Mitochondrion. The author has co-authored 2 publications.
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Papers
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,Ayse Gurel,Ricardo Moreno Traspas,Cheryl Yi-Pin Lee,Cheryl Yi-Pin Lee,Shan Zhang,Beril Talim,Abigail Loh,Crystal Y. Chia,Tze Shin Teoh,Danielle Sng,Jarred W. Rensvold,Jarred W. Rensvold,Sule Unal,Evgenia Shishkova,Ece Cepni,Fatima Megala Nathan,Fernanda L. Sirota,Chao Liang,Nese Yarali,Pelin Ozlem Simsek-Kiper,Tadahiro Mitani,Serdar Ceylaner,Ozlem Arman-Bilir,Hamdi Mbarek,Fatma Gumruk,Stephanie Efthymiou,Deniz Uğurlu Çi̇men,Danai Georgiadou,Kortessa Sotiropoulou,Henry Houlden,Franziska Paul,Davut Pehlivan,Davut Pehlivan,Candice Lainé,Candice Lainé,Guoliang Chai,Guoliang Chai,Nur Ain Ali,Siew Chin Choo,Soh Sok Keng,Bertrand Boisson,Bertrand Boisson,Bertrand Boisson,Elanur Yılmaz,Shifeng Xue,Shifeng Xue,Joshua J. Coon,Thanh Thao Nguyen Ly,Thanh Thao Nguyen Ly,Naser Gilani,Dana Hasbini,Hülya Kayserili,Maha S. Zaki,Robert J. Isfort,Natalia Ordonez,Kornelia Tripolszki,Peter Bauer,Nima Rezaei,Nima Rezaei,Simin Seyedpour,Ghamar Taj Khotaei,Charles C. Bascom,Reza Maroofian,Myriam Chaabouni,Afaf Alsubhi,Afaf Alsubhi,Wafaa Eyaid,Wafaa Eyaid,Sedat Işıkay,Joseph G. Gleeson,Joseph G. Gleeson,James R. Lupski,Jean-Laurent Casanova,David J. Pagliarini,Nurten A. Akarsu,Sebastian Maurer-Stroh,Arda Cetinkaya,Aida M. Bertoli-Avella,Ajay S. Mathuru,Ajay S. Mathuru,Ajay S. Mathuru,Lena Ho,Lena Ho,Frederic Bard,Bruno Reversade +87 more
TL;DR: The authors showed that CRISPR-Cas9-mediated inactivation of zebrafish C2ORF69 results in lethality by 8 months of age due to spontaneous epileptic seizures, which is preceded by persistent brain inflammation.
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Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish
Wong Hh,Sze Hwee Seet,Michael Maier,Ricardo Moreno Traspas,Chun Kiat Lee,Chun Kiat Lee,Shan Z,Loh Ayt,Chia Cy,Teoh Ts,Danielle Sng,Ece Cepni,Fatima Megala Nathan,Fernanda L. Sirota,Chao L,Tadahiro M,Hamdi Mbarek,Danai Georgiadou,Kortessa Sotiropoulou,Franziska Paul,Davut Pehlivan,Davut Pehlivan,Candice Lainé,Guoliang Chai,Guoliang Chai,Nur Ain Ali,Choo Sc,Bertrand Boisson,Xue S,Xue S,Hülya Kayserili,Maha S. Zaki,Robert J. Isfort,Peter Bauer,Nima Rezaei,Nima Rezaei,Simin Seyedpour,Ghamar Taj Khotaei,Charles C. Bascom,Myriam Chaabouni,Afaf Alsubhi,Afaf Alsubhi,Wafaa Eyaid,Wafaa Eyaid,Sedat Işıkay,Joseph G. Gleeson,Joseph G. Gleeson,Lupski,Jean-Laurent Casanova,Sebastian Maurer-Stroh,Aida M. Bertoli-Avella,Ajay S. Mathuru,Ajay S. Mathuru,Ajay S. Mathuru,Lena Ho,Lena Ho,Frederic Bard,Bruno Reversade +57 more
TL;DR: In this article, the authors report 9 children from 5 unrelated families with a fatal syndrome consisting of severe auto-inflammation, progredient leukoencephalopathy with recurrent seizures that segregate homozygous loss-of-function C2ORF69 variants.