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Jensen, L.R.* ; Garrett, L. ; Hölter, S.M. ; Rathkolb, B. ; Rácz, I. ; Adler, T. ; Prehn, C. ; Hans, W. ; Rozman, J. ; Becker, L. ; Aguilar-Pimentel, J.A. ; Puk, O. ; Moreth, K. ; Dopatka, M.* ; Walther, D.J.* ; von Bohlen Und Halbach, V.* ; Rath, M.* ; Delatycki, M.* ; Bert, B.* ; Fink, H.* ; Blümlein, K.* ; Ralser, M.* ; Van Dijck, A.* ; Kooy, F.* ; Stark, Z.* ; Müller, S.* ; Scherthan, H.* ; Gecz, J.* ; Wurst, W. ; Wolf, E.* ; Zimmer, A.* ; Klingenspor, M.* ; Graw, J. ; Klopstock, T.* ; Busch, D.* ; Adamski, J. ; Fuchs, H. ; Gailus-Durner, V. ; Hrabě de Angelis, M. ; von Bohlen und Halbach, O.* ; Ropers, H.H.* ; Kuss, A.W.*

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

Biochim. Biophys. Acta-Mol. Basis Dis. 1865, 2083-2093 (2018)
Verlagsversion Postprint DOI PMC
Open Access Hybrid
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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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Ftsj1 ; Trna Methyltransferase ; Intellectual Disability ; X-linked ; Mouse Model; Syndromic Mental-retardation; Transfer-rna; Splicing Mutation; Preribosomal Rna; Anticodon Loop; Expression; Nsun2; Methyltransferase; Corticosterone; Methylation
Sprache englisch
Veröffentlichungsjahr 2018
HGF-Berichtsjahr 2018
ISSN (print) / ISBN 0925-4439
e-ISSN 1878-2434
Zeitschrift Biochimica et Biophysica Acta - Molecular Basis of Disease
Quellenangaben Band: 1865, Heft: 9, Seiten: 2083-2093 Artikelnummer: , Supplement: ,
Verlag Elsevier
Verlagsort Radarweg 29, 1043 Nx Amsterdam, Netherlands
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Experimental Genetics (IEG)
Institute of Developmental Genetics (IDG)
Research Unit Genome Analysis Center (IEG-GAC)
POF Topic(s) 30201 - Metabolic Health
30204 - Cell Programming and Repair
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-500692-001
G-500500-001
G-500600-001
A-630440-001
G-500500-002
G-500500-005
DOI 10.1016/j.bbadis.2018.12.011
WOS ID WOS:000476965200001
Scopus ID 85064902079
PubMed ID 30557699
Erfassungsdatum 2018-12-21
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