{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ressler HW"],"funding":["National Institute of Neurological Disorders and Stroke","Tau Consortium","NIA NIH HHS","CurePSP","Stuart Katz","NINDS NIH HHS","Jane Martin","National Institute on Aging"],"pagination":["135"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11330133"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["12(1)"],"pubmed_abstract":["Progressive supranuclear palsy (PSP) is a neurodegenerative movement and cognitive disorder characterized by abnormal accumulation of the microtubule-associated protein tau in the brain. Biochemically, inclusions in PSP are enriched for tau proteoforms with four microtubule-binding domain repeats (4R), an isoform that arises from alternative tau pre-mRNA splicing. While preferential aggregation and reduced degradation of 4R tau protein is thought to play a role in inclusion formation and toxicity, an alternative hypothesis is that altered expression of tau mRNA isoforms plays a causal role. This stems from the observation that PSP is associated with common variation in the tau gene (MAPT) at the 17q21.31 locus which contains low copy number repeats flanking a large recurrent genomic invers"],"journal":["Acta neuropathologica communications"],"pubmed_title":["MAPT haplotype-associated transcriptomic changes in progressive supranuclear palsy."],"pmcid":["PMC11330133"],"funding_grant_id":["U54NS115266","R01 NS086736","P30 AG066514","K01AG070326","R01 AG054008","T35 AG067578","U19 AG074879","685–2023-06","RF1NS095252","R01AG054008","U54 NS123743","R01NS086736","P30AG066514","T35AG067578","U54 NS115266","R01 AG062348","RF1 NS095252","R01AG062348","U54NS123743","685-2023-06","K01 AG070326"],"pubmed_authors":["Dickson DW","Ressler HW","Babrowicz B","Kandoi S","Vialle RA","Crary JF","Farrell K","Humphrey J","Raj T","Ertekin-Taner N"],"additional_accession":[]},"is_claimable":false,"name":"MAPT haplotype-associated transcriptomic changes in progressive supranuclear palsy.","description":"Progressive supranuclear palsy (PSP) is a neurodegenerative movement and cognitive disorder characterized by abnormal accumulation of the microtubule-associated protein tau in the brain. Biochemically, inclusions in PSP are enriched for tau proteoforms with four microtubule-binding domain repeats (4R), an isoform that arises from alternative tau pre-mRNA splicing. While preferential aggregation and reduced degradation of 4R tau protein is thought to play a role in inclusion formation and toxicity, an alternative hypothesis is that altered expression of tau mRNA isoforms plays a causal role. This stems from the observation that PSP is associated with common variation in the tau gene (MAPT) at the 17q21.31 locus which contains low copy number repeats flanking a large recurrent genomic invers","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Aug","modification":"2026-06-02T04:45:40.666Z","creation":"2025-04-04T08:22:41.414Z"},"accession":"S-EPMC11330133","cross_references":{"pubmed":["39154163"],"doi":["10.1186/s40478-024-01839-3"]}}