000151071 001__ 151071
000151071 005__ 20230915093949.0
000151071 0247_ $$2ISSN$$a2753-0477
000151071 0247_ $$2doi$$a10.1136/jnnp-2019-322476
000151071 0247_ $$2ISSN$$a0022-3050
000151071 0247_ $$2ISSN$$a0266-8637
000151071 0247_ $$2ISSN$$a0368-329X
000151071 0247_ $$2ISSN$$a1468-330X
000151071 0247_ $$2altmetric$$aaltmetric:77046983
000151071 0247_ $$2pmid$$apmid:32132225
000151071 0247_ $$2ISSN$$a2753-0485
000151071 037__ $$aDZNE-2020-01056
000151071 041__ $$aEnglish
000151071 082__ $$a610
000151071 1001_ $$aBarschke, Peggy$$b0
000151071 245__ $$aDifferent CSF protein profiles in amyotrophic lateral sclerosis and frontotemporal dementia with C9orf72 hexanucleotide repeat expansion
000151071 260__ $$aLondon$$bBMJ Publishing Group$$c2020
000151071 264_1 $$2Crossref$$3online$$bBMJ$$c2020-03-04
000151071 264_1 $$2Crossref$$3print$$bBMJ$$c2020-05-01
000151071 3367_ $$2DRIVER$$aarticle
000151071 3367_ $$2DataCite$$aOutput Types/Journal article
000151071 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1600430048_31647
000151071 3367_ $$2BibTeX$$aARTICLE
000151071 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000151071 3367_ $$00$$2EndNote$$aJournal Article
000151071 520__ $$aObjectives The hexanucleotide repeat expansion in the C9orf72 gene is the most common mutation associated with amyotrophic lateral sclerosis (C9-ALS) and frontotemporal dementia (C9-FTD). Until now, it is unknown which factors define whether C9orf72 mutation carriers develop ALS or FTD. Our aim was to identify protein biomarker candidates in the cerebrospinal fluid (CSF) which differentiate between C9-ALS and C9-FTD and might be indicative for the outcome of the mutation.Methods We compared the CSF proteome of 16 C9-ALS and 8 C9-FTD patients and 11 asymptomatic C9orf72 mutation carriers (CAR) by isobaric tags for relative and absolute quantitation. Eleven biomarker candidates were selected from the pool of differentially regulated proteins for further validation by multiple reaction monitoring and single-molecule array in a larger cohort (n=156).Results In total, 2095 CSF proteins were identified and 236 proteins were significantly different in C9-ALS versus C9-FTD including neurofilament medium polypeptide (NEFM) and chitotriosidase-1 (CHIT1). Eight candidates were successfully validated including significantly increased ubiquitin carboxyl-terminal hydrolase isozyme L1 (UCHL1) levels in C9-ALS compared with C9-FTD and controls and decreased neuronal pentraxin receptor (NPTXR) levels in C9-FTD versus CAR.Conclusions This study presents a deep proteomic CSF analysis of C9-ALS versus C9-FTD patients. As a proof of concept, we observed higher NEFM and CHIT1 CSF levels in C9-ALS. In addition, we also show clear upregulation of UCHL1 in C9-ALS and downregulation of NPTXR in C9-FTD. Significant differences in UCHL1 CSF levels may explain diverging ubiquitination and autophagy processes and NPTXR levels might reflect different synapses organisation processes.
000151071 536__ $$0G:(DE-HGF)POF3-344$$a344 - Clinical and Health Care Research (POF3-344)$$cPOF3-344$$fPOF III$$x0
000151071 588__ $$aDataset connected to CrossRef
000151071 650_2 $$2MeSH$$aAdult
000151071 650_2 $$2MeSH$$aAged
000151071 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: cerebrospinal fluid
000151071 650_2 $$2MeSH$$aAmyotrophic Lateral Sclerosis: genetics
000151071 650_2 $$2MeSH$$aBiomarkers: cerebrospinal fluid
000151071 650_2 $$2MeSH$$aC9orf72 Protein: genetics
000151071 650_2 $$2MeSH$$aDNA Repeat Expansion: genetics
000151071 650_2 $$2MeSH$$aFemale
000151071 650_2 $$2MeSH$$aFrontotemporal Dementia: cerebrospinal fluid
000151071 650_2 $$2MeSH$$aFrontotemporal Dementia: genetics
000151071 650_2 $$2MeSH$$aHexosaminidases: cerebrospinal fluid
000151071 650_2 $$2MeSH$$aHumans
000151071 650_2 $$2MeSH$$aMale
000151071 650_2 $$2MeSH$$aMiddle Aged
000151071 650_2 $$2MeSH$$aNeurofilament Proteins: cerebrospinal fluid
000151071 650_2 $$2MeSH$$aProteome: analysis
000151071 650_2 $$2MeSH$$aSingle Molecule Imaging
000151071 7001_ $$aOeckl, Patrick$$b1
000151071 7001_ $$aSteinacker, Petra$$b2
000151071 7001_ $$aAl Shweiki, MHD Rami$$b3
000151071 7001_ $$aWeishaupt, Jochen H$$b4
000151071 7001_ $$aLandwehrmeyer, G Bernhard$$b5
000151071 7001_ $$aAnderl-Straub, Sarah$$b6
000151071 7001_ $$0P:(DE-HGF)0$$aWeydt, Patrick$$b7
000151071 7001_ $$0P:(DE-HGF)0$$aDiehl-Schmid, Janine$$b8
000151071 7001_ $$0P:(DE-HGF)0$$aDanek, Adrian$$b9
000151071 7001_ $$aKornhuber, Johannes$$b10
000151071 7001_ $$aSchroeter, Matthias L$$b11
000151071 7001_ $$0P:(DE-2719)2380559$$aPrudlo, Johannes$$b12$$udzne
000151071 7001_ $$aJahn, Holger$$b13
000151071 7001_ $$aFassbender, Klaus$$b14
000151071 7001_ $$aLauer, Martin$$b15
000151071 7001_ $$00000-0003-2570-8796$$avan der Ende, Emma Louise$$b16
000151071 7001_ $$00000-0001-6278-6844$$avan Swieten, John Cornelis$$b17
000151071 7001_ $$aVolk, Alexander E$$b18
000151071 7001_ $$0P:(DE-HGF)0$$aLudolph, Albert C$$b19
000151071 7001_ $$00000-0002-6647-5944$$aOtto, Markus$$b20
000151071 77318 $$2Crossref$$3journal-article$$a10.1136/jnnp-2019-322476$$b : BMJ, 2020-03-04$$n5$$p503-511$$tJournal of Neurology, Neurosurgery & Psychiatry$$v91$$x0022-3050$$y2020
000151071 773__ $$0PERI:(DE-600)1480429-3$$a10.1136/jnnp-2019-322476$$gVol. 91, no. 5, p. 503 - 511$$n5$$p503-511$$tJournal of neurology, neurosurgery, and psychiatry$$v91$$x0022-3050$$y2020
000151071 8564_ $$uhttps://jnnp.bmj.com/content/91/5/503
000151071 909CO $$ooai:pub.dzne.de:151071$$pVDB
000151071 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2380559$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b12$$kDZNE
000151071 9131_ $$0G:(DE-HGF)POF3-344$$1G:(DE-HGF)POF3-340$$2G:(DE-HGF)POF3-300$$aDE-HGF$$bForschungsbereich Gesundheit$$lErkrankungen des Nervensystems$$vClinical and Health Care Research$$x0
000151071 9141_ $$y2020
000151071 915__ $$0StatID:(DE-HGF)0160$$2StatID$$aDBCoverage$$bEssential Science Indicators$$d2020-01-17
000151071 915__ $$0StatID:(DE-HGF)1190$$2StatID$$aDBCoverage$$bBiological Abstracts$$d2020-01-17
000151071 915__ $$0StatID:(DE-HGF)0430$$2StatID$$aNational-Konsortium$$d2022-11-23$$wger
000151071 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS$$d2022-11-23
000151071 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline$$d2022-11-23
000151071 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List$$d2022-11-23
000151071 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection$$d2022-11-23
000151071 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews$$d2022-11-23
000151071 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine$$d2022-11-23
000151071 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences$$d2022-11-23
000151071 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bJ NEUROL NEUROSUR PS : 2021$$d2022-11-23
000151071 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search$$d2022-11-23
000151071 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC$$d2022-11-23
000151071 915__ $$0StatID:(DE-HGF)9910$$2StatID$$aIF >= 10$$bJ NEUROL NEUROSUR PS : 2021$$d2022-11-23
000151071 9201_ $$0I:(DE-2719)6000011$$kBonn Pre 2020$$lBonn Pre 2020$$x0
000151071 9201_ $$0I:(DE-2719)7000003$$kU Clinical Researchers - München$$lU Clinical Researchers - München$$x1
000151071 980__ $$ajournal
000151071 980__ $$aVDB
000151071 980__ $$aI:(DE-2719)6000011
000151071 980__ $$aI:(DE-2719)7000003
000151071 980__ $$aUNRESTRICTED
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neuron.2011.09.011$$o10.1016/j.neuron.2011.09.011
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S1474-4422(12)70043-1$$o10.1016/S1474-4422(12)70043-1
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/humu.22244$$o10.1002/humu.22244
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1080/21541248.2016.1212688$$o10.1080/21541248.2016.1212688
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1038/nn.4407$$o10.1038/nn.4407
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neuron.2011.09.010$$o10.1016/j.neuron.2011.09.010
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neurobiolaging.2014.01.016$$o10.1016/j.neurobiolaging.2014.01.016
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neuron.2013.02.004$$o10.1016/j.neuron.2013.02.004
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00401-013-1189-3$$o10.1007/s00401-013-1189-3
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.15252/emmm.201708202$$o10.15252/emmm.201708202
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.3233/JAD-181123$$o10.3233/JAD-181123
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1136/jnnp-2018-318994$$o10.1136/jnnp-2018-318994
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1136/jnnp-2018-320265$$o10.1136/jnnp-2018-320265
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1080/146608200300079536$$o10.1080/146608200300079536
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1212/WNL.51.6.1546$$o10.1212/WNL.51.6.1546
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S0022-510X(99)00210-5$$o10.1016/S0022-510X(99)00210-5
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1093/brain/awn234$$o10.1093/brain/awn234
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neurobiolaging.2013.11.034$$o10.1016/j.neurobiolaging.2013.11.034
000151071 999C5 $$2Crossref$$oSteinacker 2016$$y2016
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1136/jnnp-2017-317138$$o10.1136/jnnp-2017-317138
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1523/JNEUROSCI.5443-08.2009$$o10.1523/JNEUROSCI.5443-08.2009
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1073/pnas.1605964113$$o10.1073/pnas.1605964113
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1371/journal.pone.0135365$$o10.1371/journal.pone.0135365
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.neurobiolaging.2015.01.015$$o10.1016/j.neurobiolaging.2015.01.015
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.3389/fnmol.2018.00174$$o10.3389/fnmol.2018.00174
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/ana.25143$$o10.1002/ana.25143
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1007/s00401-019-02093-x$$o10.1007/s00401-019-02093-x
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S0378-1119(01)00324-9$$o10.1016/S0378-1119(01)00324-9
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.jmb.2017.04.004$$o10.1016/j.jmb.2017.04.004
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1136/jnnp-2018-318868$$o10.1136/jnnp-2018-318868
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.2147/OTT.S201799$$o10.2147/OTT.S201799
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/S0092-8674(02)01012-7$$o10.1016/S0092-8674(02)01012-7
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1016/j.parkreldis.2014.01.011$$o10.1016/j.parkreldis.2014.01.011
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1074/jbc.M314124200$$o10.1074/jbc.M314124200
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/jnr.20405$$o10.1002/jnr.20405
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1523/JNEUROSCI.2768-16.2016$$o10.1523/JNEUROSCI.2768-16.2016
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1515/cclm-2019-0428$$o10.1515/cclm-2019-0428
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1111/ane.12029$$o10.1111/ane.12029
000151071 999C5 $$2Crossref$$9-- missing cx lookup --$$a10.1002/acn3.745$$o10.1002/acn3.745
000151071 999C5 $$2Crossref$$oShen 2018$$y2018