000138388 001__ 138388
000138388 005__ 20240321220426.0
000138388 0247_ $$2doi$$a10.1016/j.ajhg.2015.12.009
000138388 0247_ $$2pmid$$apmid:26805782
000138388 0247_ $$2pmc$$apmc:PMC4746337
000138388 0247_ $$2ISSN$$a0002-9297
000138388 0247_ $$2ISSN$$a1537-6605
000138388 0247_ $$2altmetric$$aaltmetric:5022733
000138388 037__ $$aDZNE-2020-04710
000138388 041__ $$aEnglish
000138388 082__ $$a570
000138388 1001_ $$0P:(DE-HGF)0$$aKremer, Laura S$$b0
000138388 245__ $$aBi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
000138388 260__ $$aNew York, NY$$bElsevier$$c2016
000138388 264_1 $$2Crossref$$3print$$bElsevier BV$$c2016-02-01
000138388 3367_ $$2DRIVER$$aarticle
000138388 3367_ $$2DataCite$$aOutput Types/Journal article
000138388 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1710423273_24477
000138388 3367_ $$2BibTeX$$aARTICLE
000138388 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000138388 3367_ $$00$$2EndNote$$aJournal Article
000138388 520__ $$aMolecular diagnosis of mitochondrial disorders is challenging because of extreme clinical and genetic heterogeneity. By exome sequencing, we identified three different bi-allelic truncating mutations in TANGO2 in three unrelated individuals with infancy-onset episodic metabolic crises characterized by encephalopathy, hypoglycemia, rhabdomyolysis, arrhythmias, and laboratory findings suggestive of a defect in mitochondrial fatty acid oxidation. Over the course of the disease, all individuals developed global brain atrophy with cognitive impairment and pyramidal signs. TANGO2 (transport and Golgi organization 2) encodes a protein with a putative function in redistribution of Golgi membranes into the endoplasmic reticulum in Drosophila and a mitochondrial localization has been confirmed in mice. Investigation of palmitate-dependent respiration in mutant fibroblasts showed evidence of a functional defect in mitochondrial β-oxidation. Our results establish TANGO2 deficiency as a clinically recognizable cause of pediatric disease with multi-organ involvement.
000138388 536__ $$0G:(DE-HGF)POF3-344$$a344 - Clinical and Health Care Research (POF3-344)$$cPOF3-344$$fPOF III$$x0
000138388 542__ $$2Crossref$$i2016-02-01$$uhttps://www.elsevier.com/tdm/userlicense/1.0/
000138388 542__ $$2Crossref$$i2016-08-04$$uhttps://www.elsevier.com/open-access/userlicense/1.0/
000138388 588__ $$aDataset connected to CrossRef, PubMed,
000138388 650_2 $$2MeSH$$aAlleles
000138388 650_2 $$2MeSH$$aArrhythmias, Cardiac: diagnosis
000138388 650_2 $$2MeSH$$aArrhythmias, Cardiac: genetics
000138388 650_2 $$2MeSH$$aCardiomyopathies: diagnosis
000138388 650_2 $$2MeSH$$aCardiomyopathies: genetics
000138388 650_2 $$2MeSH$$aChild, Preschool
000138388 650_2 $$2MeSH$$aExome
000138388 650_2 $$2MeSH$$aFemale
000138388 650_2 $$2MeSH$$aHumans
000138388 650_2 $$2MeSH$$aInfant
000138388 650_2 $$2MeSH$$aMale
000138388 650_2 $$2MeSH$$aMitochondria: genetics
000138388 650_2 $$2MeSH$$aMitochondria: metabolism
000138388 650_2 $$2MeSH$$aMitochondrial Diseases: diagnosis
000138388 650_2 $$2MeSH$$aMitochondrial Diseases: genetics
000138388 650_2 $$2MeSH$$aMutation
000138388 650_2 $$2MeSH$$aPedigree
000138388 7001_ $$0P:(DE-HGF)0$$aDistelmaier, Felix$$b1
000138388 7001_ $$0P:(DE-HGF)0$$aAlhaddad, Bader$$b2
000138388 7001_ $$0P:(DE-HGF)0$$aHempel, Maja$$b3
000138388 7001_ $$0P:(DE-HGF)0$$aIuso, Arcangela$$b4
000138388 7001_ $$0P:(DE-2719)9000175$$aKüpper, Clemens$$b5$$udzne
000138388 7001_ $$0P:(DE-HGF)0$$aMühlhausen, Chris$$b6
000138388 7001_ $$0P:(DE-HGF)0$$aKovacs-Nagy, Reka$$b7
000138388 7001_ $$0P:(DE-HGF)0$$aSatanovskij, Robin$$b8
000138388 7001_ $$0P:(DE-HGF)0$$aGraf, Elisabeth$$b9
000138388 7001_ $$0P:(DE-HGF)0$$aBerutti, Riccardo$$b10
000138388 7001_ $$0P:(DE-HGF)0$$aEckstein, Gertrud$$b11
000138388 7001_ $$0P:(DE-HGF)0$$aDurbin, Richard$$b12
000138388 7001_ $$0P:(DE-HGF)0$$aSauer, Sascha$$b13
000138388 7001_ $$0P:(DE-HGF)0$$aHoffmann, Georg F$$b14
000138388 7001_ $$0P:(DE-HGF)0$$aStrom, Tim M$$b15
000138388 7001_ $$0P:(DE-HGF)0$$aSanter, René$$b16
000138388 7001_ $$0P:(DE-2719)9000207$$aMeitinger, Thomas$$b17$$eCorresponding author$$udzne
000138388 7001_ $$0P:(DE-2719)2810704$$aKlopstock, Thomas$$b18$$udzne
000138388 7001_ $$0P:(DE-HGF)0$$aProkisch, Holger$$b19
000138388 7001_ $$0P:(DE-HGF)0$$aHaack, Tobias B$$b20
000138388 77318 $$2Crossref$$3journal-article$$a10.1016/j.ajhg.2015.12.009$$b : Elsevier BV, 2016-02-01$$n2$$p358-362$$tThe American Journal of Human Genetics$$v98$$x0002-9297$$y2016
000138388 773__ $$0PERI:(DE-600)1473813-2$$a10.1016/j.ajhg.2015.12.009$$gVol. 98, no. 2, p. 358 - 362$$n2$$p358-362$$q98:2<358 - 362$$tThe American journal of human genetics$$v98$$x0002-9297$$y2016
000138388 8567_ $$2Pubmed Central$$uhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746337
000138388 8564_ $$uhttps://pub.dzne.de/record/138388/files/DZNE-2020-04710_Restricted.pdf
000138388 8564_ $$uhttps://pub.dzne.de/record/138388/files/DZNE-2020-04710_Restricted.pdf?subformat=pdfa$$xpdfa
000138388 909CO $$ooai:pub.dzne.de:138388$$pVDB
000138388 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9000175$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b5$$kDZNE
000138388 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)9000207$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b17$$kDZNE
000138388 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810704$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b18$$kDZNE
000138388 9131_ $$0G:(DE-HGF)POF3-344$$1G:(DE-HGF)POF3-340$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lErkrankungen des Nervensystems$$vClinical and Health Care Research$$x0
000138388 9141_ $$y2016
000138388 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS
000138388 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline
000138388 915__ $$0StatID:(DE-HGF)0310$$2StatID$$aDBCoverage$$bNCBI Molecular Biology Database
000138388 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central
000138388 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bAM J HUM GENET : 2017
000138388 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search
000138388 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC
000138388 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List
000138388 915__ $$0StatID:(DE-HGF)0110$$2StatID$$aWoS$$bScience Citation Index
000138388 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection
000138388 915__ $$0StatID:(DE-HGF)0111$$2StatID$$aWoS$$bScience Citation Index Expanded
000138388 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine
000138388 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences
000138388 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews
000138388 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bAM J HUM GENET : 2017
000138388 9201_ $$0I:(DE-2719)5000049$$kExt LMU Klinik$$lExt LMU Klinik$$x0
000138388 9201_ $$0I:(DE-2719)1111016$$kAG Levin$$lClinical Neurodegeneration$$x1
000138388 980__ $$ajournal
000138388 980__ $$aVDB
000138388 980__ $$aI:(DE-2719)5000049
000138388 980__ $$aI:(DE-2719)1111016
000138388 980__ $$aUNRESTRICTED