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@ARTICLE{Jensen:140836,
      author       = {Jensen, Lars R and Garrett, Lillian and Hölter, Sabine M
                      and Rathkolb, Birgit and Rácz, Ildikó and Adler, Thure and
                      Prehn, Cornelia and Hans, Wolfgang and Rozman, Jan and
                      Becker, Lore and Aguilar-Pimentel, Juan Antonio and Puk,
                      Oliver and Moreth, Kristin and Dopatka, Monika and Walther,
                      Diego J and von Bohlen Und Halbach, Viola and Rath, Matthias
                      and Delatycki, Martin and Bert, Bettina and Fink, Heidrun
                      and Blümlein, Katharina and Ralser, Markus and Van Dijck,
                      Anke and Kooy, Frank and Stark, Zornitza and Müller, Sabine
                      and Scherthan, Harry and Gecz, Jozef and Wurst, Wolfgang and
                      Wolf, Eckhard and Zimmer, Andreas and Klingenspor, Martin
                      and Graw, Jochen and Klopstock, Thomas and Busch, Dirk and
                      Adamski, Jerzy and Fuchs, Helmut and Gailus-Durner, Valérie
                      and de Angelis, Martin Hrabě and von Bohlen Und Halbach,
                      Oliver and Ropers, Hans-Hilger and Kuss, Andreas W},
      title        = {{A} mouse model for intellectual disability caused by
                      mutations in the {X}-linked 2'‑{O}‑methyltransferase
                      {F}tsj1 gene.},
      journal      = {Biochimica et biophysica acta / Molecular basis of disease},
      volume       = {1865},
      number       = {9},
      issn         = {0925-4439},
      address      = {Amsterdam},
      publisher    = {Elsevier},
      reportid     = {DZNE-2020-07158},
      pages        = {2083-2093},
      year         = {2019},
      abstract     = {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 pathological mechanism
                      involved in the aetiology of FTSJ1 deficiency-related
                      cognitive impairment, we generated and characterized an
                      Ftsj1 deficient mouse line based on the gene trapped stem
                      cell line RRD143. Apart from an impaired learning capacity
                      these mice presented with several statistically
                      significantly altered features related to behaviour, pain
                      sensing, bone and energy metabolism, the immune and the
                      hormone system as well as gene expression. These findings
                      show that Ftsj1 deficiency in mammals is not phenotypically
                      restricted to the brain but affects various organ systems.
                      Re-examination of ID patients with FTSJ1 mutations from two
                      previously reported families showed that several features
                      observed in the mouse model were recapitulated in some of
                      the patients. Though the clinical spectrum related to Ftsj1
                      deficiency in mouse and man is variable, we suggest that an
                      increased pain threshold may be more common in patients with
                      FTSJ1 deficiency. Our findings demonstrate novel roles for
                      Ftsj1 in maintaining proper cellular and tissue functions in
                      a mammalian organism.},
      keywords     = {Animals / Behavior, Animal / Cognition Disorders: etiology
                      / Cognition Disorders: pathology / Disease Models, Animal /
                      Family / Female / Intellectual Disability: etiology /
                      Intellectual Disability: pathology / Male / Mental
                      Retardation, X-Linked: genetics / Methyltransferases:
                      genetics / Methyltransferases: metabolism /
                      Methyltransferases: physiology / Mice / Mice, Inbred C57BL /
                      Mice, Knockout / Mutation / Nociceptive Pain: etiology /
                      Nociceptive Pain: pathology / Nuclear Proteins: genetics /
                      Nuclear Proteins: metabolism / tRNA Methyltransferases:
                      genetics / tRNA Methyltransferases: metabolism / tRNA
                      Methyltransferases: physiology},
      cin          = {AG Wurst / Clinical Dementia Research München ; AG Levin},
      ddc          = {610},
      cid          = {I:(DE-2719)1140001 / I:(DE-2719)1111016},
      pnm          = {342 - Disease Mechanisms and Model Systems (POF3-342) / 344
                      - Clinical and Health Care Research (POF3-344)},
      pid          = {G:(DE-HGF)POF3-342 / G:(DE-HGF)POF3-344},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:30557699},
      doi          = {10.1016/j.bbadis.2018.12.011},
      url          = {https://pub.dzne.de/record/140836},
}