A mouse model for intellectual disability caused by mutations in the X-linked 2'Omethyltransferase Ftsj1 gene

Autor: Andreas W. Kuss, Ildiko Racz, Lore Becker, Thomas Klopstock, Lillian Garrett, Lars R. Jensen, Markus Ralser, Jozef Gecz, Martin Hrabě de Angelis, Matthias Rath, Hans-Hilger Ropers, Martin Klingenspor, Eckhard Wolf, Juan Antonio Aguilar-Pimentel, Thure Adler, Wolfgang Wurst, Anke Van Dijck, Sabine Müller, Jan Rozman, Viola von Bohlen und Halbach, Andreas Zimmer, Kristin Moreth, Harry Scherthan, Katharina Blümlein, Martin B. Delatycki, Birgit Rathkolb, Diego J. Walther, Jochen Graw, R. Frank Kooy, Jerzy Adamski, Valerie Gailus-Durner, Oliver Puk, Helmut Fuchs, Sabine M. Hölter, Bettina Bert, Oliver von Bohlen und Halbach, Cornelia Prehn, Wolfgang Hans, Zornitza Stark, Monika Dopatka, Dirk H. Busch, Heidrun Fink

Publikováno v: Biochim Biophys Acta Mol Basis Dis
Biochimica et biophysica acta : molecular basis of disease
Biochimica et biophysica acta / Molecular basis of disease 1865(9), 2083-2093 (2019). doi:10.1016/j.bbadis.2018.12.011

Mutations in the X chromosomal tRNA 2'-O-methyltransferase FTSJ1 cause intellectual disability (ID). Although the gene is ubiquitously expressed affected individuals present no consistent clinical features beyond ID. In order to study the pathologica

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba7c5352c82f2abde8ba3f3cd43a40d0
https://hdl.handle.net/21.11116/0000-0003-587A-221.11116/0000-0003-587C-0