{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hsiao CT"],"funding":["National Taiwan University","National Health Research Institutes","National Science and Technology Council"],"pagination":["e1011954"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12674567"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["21(12)"],"pubmed_abstract":["Spinocerebellar ataxia type 36 (SCA36) is a neurodegenerative disease caused by expanded (GGCCTG)n hexanucleotide repeat sequence in the NOP56 gene. While the expanded repeats could transcribe and form toxic RNA foci within neurons, recent evidence indicates that translation of these repeats produces dipeptide repeats (DPR) that contribute to neurotoxicity. The relative impact of hexanucleotide RNA repeats (HRR) and DPR on the neurodegeneration of SCA36 remains unclear. Here, we established a Drosophila SCA36 model to dissect the neurotoxic effects of HRR and DPR. The fly model recapitulates the cellular defects observed in SCA36 patient fibroblasts, validating its relevance for mechanistic study of SCA36. Further engineering the transgenes to express individual DPRs reveal Proline-Glycine"],"journal":["PLoS genetics"],"pubmed_title":["A fly model of SCA36 reveals combinatorial neurotoxicity of hexanucleotide and dipeptide repeats."],"pmcid":["PMC12674567"],"funding_grant_id":["111-2320-B-002-049-MY3, 112-2314-B-002-016, and 113-2320-B002-022-MY3","113-2636-B-006-006","112L895403 and 113L893103","NSTC 112-2314-B-075-039- and 113-2314-B-075-073-MY3","EX112-11228NI and EX113-11228NI"],"pubmed_authors":["Lee YC","Hsiao CT","Guo TN","Yu CH","Lin CC","Tsao YJ","Fu SJ","Huang SY","Hashimoto M","Chan CC","Chang W","Liao YC"],"additional_accession":[]},"is_claimable":false,"name":"A fly model of SCA36 reveals combinatorial neurotoxicity of hexanucleotide and dipeptide repeats.","description":"Spinocerebellar ataxia type 36 (SCA36) is a neurodegenerative disease caused by expanded (GGCCTG)n hexanucleotide repeat sequence in the NOP56 gene. While the expanded repeats could transcribe and form toxic RNA foci within neurons, recent evidence indicates that translation of these repeats produces dipeptide repeats (DPR) that contribute to neurotoxicity. The relative impact of hexanucleotide RNA repeats (HRR) and DPR on the neurodegeneration of SCA36 remains unclear. Here, we established a Drosophila SCA36 model to dissect the neurotoxic effects of HRR and DPR. The fly model recapitulates the cellular defects observed in SCA36 patient fibroblasts, validating its relevance for mechanistic study of SCA36. Further engineering the transgenes to express individual DPRs reveal Proline-Glycine","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Dec","modification":"2026-05-22T03:24:28.34Z","creation":"2026-05-22T03:15:51.364Z"},"accession":"S-EPMC12674567","cross_references":{"pubmed":["41337098"],"doi":["10.1371/journal.pgen.1011954"]}}