{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Causevic M"],"funding":["Deutscher Akademischer Austauschdienst (DE)","Breuer Foundation Alzheimer Award","Helmholtz-Israel project","Ministarstvo Obrazovanja, Znanosti i Sporta","EU Joint Programme for Neurodegenerative Disease Research","Centers of Excellence in Neurodgeneration (CoEN) initiative","Hrvatska Zaklada za Znanost"],"pagination":["e0200344"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6034874"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["13(7)"],"pubmed_abstract":["It is intriguing that a rare, inherited lysosomal storage disorder Niemann-Pick type C (NPC) shares similarities with Alzheimer's disease (AD). We have previously reported an enhanced processing of β-amyloid precursor protein (APP) by β-secretase (BACE1), a key enzyme in the pathogenesis of AD, in NPC1-null cells. In this work, we characterized regional and temporal expression and processing of the recently identified BACE1 substrates seizure protein 6 (Sez6) and seizure 6-like protein (Sez6L), and APP, in NPC1-/- (NPC1) and NPC1+/+ (wt) mouse brains. We analysed 4-weeks old brains to detect the earliest changes associated with NPC, and 10-weeks of age to identify changes at terminal disease stage. Sez6 and Sez6L were selected due to their predominant cleavage by BACE1, and their potential"],"journal":["PloS one"],"pubmed_title":["BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains."],"pmcid":["PMC6034874"],"funding_grant_id":["RiModFTD","2016-2017.","IP-2016-06-2799"],"pubmed_authors":["Cermak S","Havas D","Hecimovic S","Windisch M","McDonald J","Colombo A","Flunkert S","Malnar M","Vidatic L","Kuhn PH","Hutter-Paier B","Lichtenthaler SF","Causevic M","Dominko K","Pigoni M","Krainc D","Gunnersen JM","Tahirovic S"],"additional_accession":[]},"is_claimable":false,"name":"BACE1-cleavage of Sez6 and Sez6L is elevated in Niemann-Pick type C disease mouse brains.","description":"It is intriguing that a rare, inherited lysosomal storage disorder Niemann-Pick type C (NPC) shares similarities with Alzheimer's disease (AD). We have previously reported an enhanced processing of β-amyloid precursor protein (APP) by β-secretase (BACE1), a key enzyme in the pathogenesis of AD, in NPC1-null cells. In this work, we characterized regional and temporal expression and processing of the recently identified BACE1 substrates seizure protein 6 (Sez6) and seizure 6-like protein (Sez6L), and APP, in NPC1-/- (NPC1) and NPC1+/+ (wt) mouse brains. We analysed 4-weeks old brains to detect the earliest changes associated with NPC, and 10-weeks of age to identify changes at terminal disease stage. Sez6 and Sez6L were selected due to their predominant cleavage by BACE1, and their potential","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018","modification":"2025-04-18T17:31:21.864Z","creation":"2019-03-26T23:46:54Z"},"accession":"S-EPMC6034874","cross_references":{"pubmed":["29979789"],"doi":["10.1371/journal.pone.0200344"]}}