Stegmüller, Judith

[["dc.bibliographiccitation.firstpage","2008"],["dc.bibliographiccitation.issue","18"],["dc.bibliographiccitation.journal","The EMBO Journal"],["dc.bibliographiccitation.lastpage","2025"],["dc.bibliographiccitation.volume","35"],["dc.contributor.author","Vingill, Siv"],["dc.contributor.author","Brockelt, David"],["dc.contributor.author","Lancelin, Camille"],["dc.contributor.author","Tatenhorst, Lars"],["dc.contributor.author","Dontcheva, Guergana"],["dc.contributor.author","Preisinger, Christian"],["dc.contributor.author","Schwedhelm-Domeyer, Nicola"],["dc.contributor.author","Joseph, Sabitha"],["dc.contributor.author","Mitkovski, Miso"],["dc.contributor.author","Goebbels, Sandra"],["dc.contributor.author","Nave, Klaus-Armin"],["dc.contributor.author","Schulz, Joerg B."],["dc.contributor.author","Marquardt, Till"],["dc.contributor.author","Lingor, Paul"],["dc.contributor.author","Stegmueller, Judith"],["dc.date.accessioned","2018-11-07T10:08:31Z"],["dc.date.available","2018-11-07T10:08:31Z"],["dc.date.issued","2016"],["dc.description.abstract","Mutations in the FBXO7 (PARK15) gene have been implicated in a juvenile form of parkinsonism termed parkinsonian pyramidal syndrome (PPS), characterized by Parkinsonian symptoms and pyramidal tract signs. FBXO7 (F-box protein only 7) is a subunit of the SCF (SKP1/cullin-1/F-box protein) E3 ubiquitin ligase complex, but its relevance and function in neurons remain to be elucidated. Here, we report that the E3 ligase FBXO7-SCF binds to and ubiquitinates the proteasomal subunit PSMA2. In addition, we show that FBXO7 is a proteasome-associated protein involved in proteasome assembly. In FBXO7 knockout mice, we find reduced proteasome activity and early-onset motor deficits together with premature death. In addition, we demonstrate that NEX (neuronal helix-loop-helix protein-1)-Cre-induced deletion of the FBXO7 gene in forebrain neurons or the loss of FBXO7 in tyrosine hydroxylase (TH)-positive neurons results in motor defects, reminiscent of the phenotype in PARK15 patients. Taken together, our study establishes a vital role for FBXO7 in neurons, which is required for proper motor control and accentuates the importance of FBXO7 in proteasome function."],["dc.identifier.doi","10.15252/embj.201593585"],["dc.identifier.isi","000384084900006"],["dc.identifier.pmid","27497298"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/39477"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1460-2075"],["dc.relation.issn","0261-4189"],["dc.title","Loss of FBXO7 (PARK15) results in reduced proteasome activity and models a parkinsonism-like phenotype in mice"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]