Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

Ender Karaca; Stefan Weitzer; Davut Pehli̇van; Hiroshi Shiraishi; Tasos Gogakos; Toshikatsu Hanada; Shalini N. Jhangiani; Wojciech Wiszniewski; Marjorie Withers; Ian M. Campbell; Serkan Erdin; Sedat Işıkay; Luis M. Franco; Claudia Gonzaga‐Jauregui; Tomasz Gambin; Violet Gelowani; Jill V. Hunter; Gözde Yeşil; Erkan Koparir; Sarenur Yılmaz; Miguel Brown; Daniel Briskin; Markus Hafner; Pavel Morozov; Thalia A. Farazi; Christian Bernreuther; Markus Glatzel; Siegfried Trattnig; Joachim Friske; Claudia Kronnerwetter; Matthew N. Bainbridge; Alper Gezdirici; Mehmet Seven; Donna M. Muzny; Eric Boerwinkle; Mustafa Özen; Tim Clausen; Thomas Tuschl; Adnan Yüksel; Andreas Heß; Richard A. Gibbs; Javier Martı̂nez; Josef Penninger; James R. Lupski

doi:10.1016/j.cell.2014.02.058

Human CLP1 Mutations Alter tRNA Biogenesis, Affecting Both Peripheral and Central Nervous System Function

Ender Karaca(Baylor College of Medicine), Stefan Weitzer(Institute of Molecular Biotechnology), Davut Pehli̇van(Baylor College of Medicine), Hiroshi Shiraishi(Institute of Molecular Biotechnology), Tasos Gogakos(Howard Hughes Medical Institute), Toshikatsu Hanada(Institute of Molecular Biotechnology), Shalini N. Jhangiani(Baylor College of Medicine), Wojciech Wiszniewski(Baylor College of Medicine), Marjorie Withers(Baylor College of Medicine), Ian M. Campbell(Baylor College of Medicine), Serkan Erdin(Massachusetts General Hospital), Sedat Işıkay(Gaziantep Children's Hospital), Luis M. Franco(Baylor College of Medicine), Claudia Gonzaga‐Jauregui(Baylor College of Medicine), Tomasz Gambin(Baylor College of Medicine), Violet Gelowani(Baylor College of Medicine), Jill V. Hunter(Texas Children's Hospital), Gözde Yeşil(Bezmiâlem Vakıf Üniversitesi), Erkan Koparir(Istanbul University), Sarenur Yılmaz(Istanbul Medeniyet University), Miguel Brown(Howard Hughes Medical Institute), Daniel Briskin(Howard Hughes Medical Institute), Markus Hafner(Howard Hughes Medical Institute), Pavel Morozov(Howard Hughes Medical Institute), Thalia A. Farazi(Howard Hughes Medical Institute), Christian Bernreuther(Universität Hamburg), Markus Glatzel(Universität Hamburg), Siegfried Trattnig(Medical University of Vienna), Joachim Friske(Medical University of Vienna), Claudia Kronnerwetter(Medical University of Vienna), Matthew N. Bainbridge(Baylor College of Medicine), Alper Gezdirici(Istanbul University), Mehmet Seven(Istanbul University), Donna M. Muzny(Baylor College of Medicine), Eric Boerwinkle(Baylor College of Medicine), Mustafa Özen(Istanbul University), Tim Clausen(Research Institute of Molecular Pathology), Thomas Tuschl(Howard Hughes Medical Institute), Adnan Yüksel(Istanbul University), Andreas Heß(Friedrich-Alexander-Universität Erlangen-Nürnberg), Richard A. Gibbs(Baylor College of Medicine), Javier Martı̂nez(Institute of Molecular Biotechnology), Josef Penninger(Institute of Molecular Biotechnology), James R. Lupski(Baylor College of Medicine)

Cell

April 1, 2014

10.1016/j.cell.2014.02.058

Cited by 222Open Access

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