{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["LeBlanc KR"],"funding":["BLRD VA","NIA NIH HHS","NINDS NIH HHS","NIH HHS"],"pagination":["ugaf032"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12469191"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["2(3)"],"pubmed_abstract":["Alzheimer's disease (AD) and other tauopathies are neurodegenerative disorders with devastating consequences for cognition and memory. Pathogenic accumulation of tau can be modeled in <i>Caenorhabditis elegans</i>, which recapitulate human neurodegeneration including aging-dependent accumulation of phosphorylated tau, tau aggregation, neuronal dysfunction, and neuron degeneration. Using forward genetic screens to identify genes modulating tau pathology, we identified a single point mutation in <i>dib-1</i> that ameliorates tau-driven behavioral defects, prevents neurodegeneration, and decreases tau protein levels. The <i>dib-1</i> gene encodes a small, highly conserved protein, known as TXNL4A in humans, and participates in mRNA splicing via the U4/U6.U5 tri-snRNP. Notably, heterozygous lo"],"journal":["NAR molecular medicine"],"pubmed_title":["Tri-snRNP activity modulates tauopathy phenotypes."],"pmcid":["PMC12469191"],"funding_grant_id":["F99 AG088436","U19 AG066567","I01 BX005762","R01 AG084680","R01 AG066729","T32 AG052354","P40 OD010440","R01 AG084552","R01 NS064131","IK6 BX006467","P30 AG066509"],"pubmed_authors":["Liachko NF","Saxton AD","Wheeler JM","Latimer CS","LeBlanc KR","Eck RJ","Kow RL","Kraemer BC","McMillan PJ","Keene CD"],"additional_accession":[]},"is_claimable":false,"name":"Tri-snRNP activity modulates tauopathy phenotypes.","description":"Alzheimer's disease (AD) and other tauopathies are neurodegenerative disorders with devastating consequences for cognition and memory. Pathogenic accumulation of tau can be modeled in <i>Caenorhabditis elegans</i>, which recapitulate human neurodegeneration including aging-dependent accumulation of phosphorylated tau, tau aggregation, neuronal dysfunction, and neuron degeneration. Using forward genetic screens to identify genes modulating tau pathology, we identified a single point mutation in <i>dib-1</i> that ameliorates tau-driven behavioral defects, prevents neurodegeneration, and decreases tau protein levels. The <i>dib-1</i> gene encodes a small, highly conserved protein, known as TXNL4A in humans, and participates in mRNA splicing via the U4/U6.U5 tri-snRNP. Notably, heterozygous lo","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Jul","modification":"2026-05-31T03:09:27.308Z","creation":"2026-05-31T03:07:19.805Z"},"accession":"S-EPMC12469191","cross_references":{"pubmed":["41256288"],"doi":["10.1093/narmme/ugaf032"]}}