{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["10(41)"],"submitter":["Cerro-Herreros E"],"pubmed_abstract":["This study evaluated therapeutic antimiRs in primary myoblasts from patients with myotonic dystrophy type 1 (DM1). DM1 results from unstable CTG repeat expansions in the <i>DMPK</i> gene, leading to variable clinical manifestations by depleting muscleblind-like splicing regulator protein MBNL1. AntimiRs targeting natural repressors miR-23b and miR-218 boost MBNL1 expression but must be optimized for a better pharmacological profile in humans. In untreated cells, miR-23b and miR-218 were up-regulated, which correlated with CTG repeat size, supporting that active MBNL1 protein repression synergizes with the sequestration by CUG expansions in <i>DMPK</i>. AntimiR treatment improved RNA toxicity readouts and corrected regulated exon inclusions and myoblast defects such as fusion index and myot"],"journal":["Science advances"],"pagination":["eadn6525"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11463307"],"repository":["biostudies-literature"],"pubmed_title":["AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action."],"pmcid":["PMC11463307"],"pubmed_authors":["Suelves M","Nunez-Manchon J","Vilchez JJ","Cerro-Herreros E","Garcia-Rey A","Llamusi B","Carrascosa-Saez M","Poyatos-Garcia J","de Munain AL","Moreno K","Artero R","Espinosa-Espinosa J","Naldaiz-Gastesi N","Nogales-Gadea G","Losilla DP","Gonzalez-Martinez I"],"additional_accession":[]},"is_claimable":false,"name":"AntimiR treatment corrects myotonic dystrophy primary cell defects across several CTG repeat expansions with a dual mechanism of action.","description":"This study evaluated therapeutic antimiRs in primary myoblasts from patients with myotonic dystrophy type 1 (DM1). DM1 results from unstable CTG repeat expansions in the <i>DMPK</i> gene, leading to variable clinical manifestations by depleting muscleblind-like splicing regulator protein MBNL1. AntimiRs targeting natural repressors miR-23b and miR-218 boost MBNL1 expression but must be optimized for a better pharmacological profile in humans. In untreated cells, miR-23b and miR-218 were up-regulated, which correlated with CTG repeat size, supporting that active MBNL1 protein repression synergizes with the sequestration by CUG expansions in <i>DMPK</i>. AntimiR treatment improved RNA toxicity readouts and corrected regulated exon inclusions and myoblast defects such as fusion index and myot","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Oct","modification":"2026-07-14T19:43:02.792Z","creation":"2025-04-04T02:29:38.18Z"},"accession":"S-EPMC11463307","cross_references":{"pubmed":["39383229"],"doi":["10.1126/sciadv.adn6525"]}}