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000140836 0247_ $$2doi$$a10.1016/j.bbadis.2018.12.011
000140836 0247_ $$2pmid$$apmid:30557699
000140836 0247_ $$2ISSN$$a0006-3002
000140836 0247_ $$2ISSN$$a0925-4439
000140836 0247_ $$2ISSN$$a1878-2434
000140836 0247_ $$2ISSN$$a1879-260X
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000140836 037__ $$aDZNE-2020-07158
000140836 041__ $$aEnglish
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000140836 1001_ $$0P:(DE-HGF)0$$aJensen, Lars R$$b0$$eCorresponding author
000140836 245__ $$aA mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.
000140836 260__ $$aAmsterdam$$bElsevier$$c2019
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000140836 520__ $$aMutations in the X chromosomal tRNA 2'‑O‑methyltransferase FTSJ1 cause intellectual disability (ID). Although the gene is ubiquitously expressed affected individuals present no consistent clinical features beyond ID. In order to study the pathological mechanism involved in the aetiology of FTSJ1 deficiency-related cognitive impairment, we generated and characterized an Ftsj1 deficient mouse line based on the gene trapped stem cell line RRD143. Apart from an impaired learning capacity these mice presented with several statistically significantly altered features related to behaviour, pain sensing, bone and energy metabolism, the immune and the hormone system as well as gene expression. These findings show that Ftsj1 deficiency in mammals is not phenotypically restricted to the brain but affects various organ systems. Re-examination of ID patients with FTSJ1 mutations from two previously reported families showed that several features observed in the mouse model were recapitulated in some of the patients. Though the clinical spectrum related to Ftsj1 deficiency in mouse and man is variable, we suggest that an increased pain threshold may be more common in patients with FTSJ1 deficiency. Our findings demonstrate novel roles for Ftsj1 in maintaining proper cellular and tissue functions in a mammalian organism.
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000140836 542__ $$2Crossref$$i2019-09-01$$uhttps://www.elsevier.com/tdm/userlicense/1.0/
000140836 542__ $$2Crossref$$i2019-01-10$$uhttp://creativecommons.org/licenses/by/4.0/
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000140836 650_2 $$2MeSH$$aAnimals
000140836 650_2 $$2MeSH$$aBehavior, Animal
000140836 650_2 $$2MeSH$$aCognition Disorders: etiology
000140836 650_2 $$2MeSH$$aCognition Disorders: pathology
000140836 650_2 $$2MeSH$$aDisease Models, Animal
000140836 650_2 $$2MeSH$$aFamily
000140836 650_2 $$2MeSH$$aFemale
000140836 650_2 $$2MeSH$$aIntellectual Disability: etiology
000140836 650_2 $$2MeSH$$aIntellectual Disability: pathology
000140836 650_2 $$2MeSH$$aMale
000140836 650_2 $$2MeSH$$aMental Retardation, X-Linked: genetics
000140836 650_2 $$2MeSH$$aMethyltransferases: genetics
000140836 650_2 $$2MeSH$$aMethyltransferases: metabolism
000140836 650_2 $$2MeSH$$aMethyltransferases: physiology
000140836 650_2 $$2MeSH$$aMice
000140836 650_2 $$2MeSH$$aMice, Inbred C57BL
000140836 650_2 $$2MeSH$$aMice, Knockout
000140836 650_2 $$2MeSH$$aMutation
000140836 650_2 $$2MeSH$$aNociceptive Pain: etiology
000140836 650_2 $$2MeSH$$aNociceptive Pain: pathology
000140836 650_2 $$2MeSH$$aNuclear Proteins: genetics
000140836 650_2 $$2MeSH$$aNuclear Proteins: metabolism
000140836 650_2 $$2MeSH$$atRNA Methyltransferases: genetics
000140836 650_2 $$2MeSH$$atRNA Methyltransferases: metabolism
000140836 650_2 $$2MeSH$$atRNA Methyltransferases: physiology
000140836 7001_ $$aGarrett, Lillian$$b1
000140836 7001_ $$aHölter, Sabine M$$b2
000140836 7001_ $$aRathkolb, Birgit$$b3
000140836 7001_ $$0P:(DE-HGF)0$$aRácz, Ildikó$$b4
000140836 7001_ $$aAdler, Thure$$b5
000140836 7001_ $$aPrehn, Cornelia$$b6
000140836 7001_ $$aHans, Wolfgang$$b7
000140836 7001_ $$aRozman, Jan$$b8
000140836 7001_ $$aBecker, Lore$$b9
000140836 7001_ $$aAguilar-Pimentel, Juan Antonio$$b10
000140836 7001_ $$aPuk, Oliver$$b11
000140836 7001_ $$aMoreth, Kristin$$b12
000140836 7001_ $$aDopatka, Monika$$b13
000140836 7001_ $$aWalther, Diego J$$b14
000140836 7001_ $$avon Bohlen Und Halbach, Viola$$b15
000140836 7001_ $$aRath, Matthias$$b16
000140836 7001_ $$aDelatycki, Martin$$b17
000140836 7001_ $$aBert, Bettina$$b18
000140836 7001_ $$aFink, Heidrun$$b19
000140836 7001_ $$aBlümlein, Katharina$$b20
000140836 7001_ $$aRalser, Markus$$b21
000140836 7001_ $$aVan Dijck, Anke$$b22
000140836 7001_ $$aKooy, Frank$$b23
000140836 7001_ $$aStark, Zornitza$$b24
000140836 7001_ $$aMüller, Sabine$$b25
000140836 7001_ $$aScherthan, Harry$$b26
000140836 7001_ $$aGecz, Jozef$$b27
000140836 7001_ $$0P:(DE-2719)2000028$$aWurst, Wolfgang$$b28$$udzne
000140836 7001_ $$aWolf, Eckhard$$b29
000140836 7001_ $$aZimmer, Andreas$$b30
000140836 7001_ $$aKlingenspor, Martin$$b31
000140836 7001_ $$aGraw, Jochen$$b32
000140836 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b33$$udzne
000140836 7001_ $$aBusch, Dirk$$b34
000140836 7001_ $$aAdamski, Jerzy$$b35
000140836 7001_ $$aFuchs, Helmut$$b36
000140836 7001_ $$aGailus-Durner, Valérie$$b37
000140836 7001_ $$0P:(DE-HGF)0$$ade Angelis, Martin Hrabě$$b38
000140836 7001_ $$avon Bohlen Und Halbach, Oliver$$b39
000140836 7001_ $$aRopers, Hans-Hilger$$b40
000140836 7001_ $$aKuss, Andreas W$$b41
000140836 77318 $$2Crossref$$3journal-article$$a10.1016/j.bbadis.2018.12.011$$b : Elsevier BV, 2019-09-01$$n9$$p2083-2093$$tBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease$$v1865$$x0925-4439$$y2019
000140836 773__ $$0PERI:(DE-600)2209528-7$$a10.1016/j.bbadis.2018.12.011$$gVol. 1865, no. 9, p. 2083 - 2093$$n9$$p2083-2093$$q1865:9<2083 - 2093$$tBiochimica et biophysica acta / Molecular basis of disease$$v1865$$x0925-4439$$y2019
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