{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Shomer I"],"funding":["Russian Science Foundation"],"pagination":["102432"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11787015"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["36(1)"],"pubmed_abstract":["GNAO1-associated disorders are ultra-rare autosomal dominant conditions, which can manifest, depending on the exact pathogenic variant in <i>GNAO1</i>, as a spectrum of neurological phenotypes, including epileptic encephalopathy, developmental delay with movement disorders, or late-onset dystonia. There are currently no effective treatments available, apart from symptomatic options. In this work, we suggest harnessing personalized RNA therapy to treat <i>GNAO1</i> patients and focus specifically on a recurrent pathogenic variant (E246K). We systemically screened allele-specific antisense oligonucleotides (ASOs) targeting the mutated allele to identify a potent and specific sequence using both reporter-based platforms and a patient-derived cellular model. We show that reduction of mutated <"],"journal":["Molecular therapy. Nucleic acids"],"pubmed_title":["Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder."],"pmcid":["PMC11787015"],"funding_grant_id":["21-15-00138"],"pubmed_authors":["Avkin-Nachum S","Ben-Ze'ev B","Rais Y","Fluss R","Shomer I","Haffner-Krausz R","Ziv A","Katanaev VL","Mor N","Raviv S","Heimer G","Silachev DN","Haimovich A","Budick-Harmelin N","Matchevich T","Dominissini D"],"additional_accession":[]},"is_claimable":false,"name":"Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorder.","description":"GNAO1-associated disorders are ultra-rare autosomal dominant conditions, which can manifest, depending on the exact pathogenic variant in <i>GNAO1</i>, as a spectrum of neurological phenotypes, including epileptic encephalopathy, developmental delay with movement disorders, or late-onset dystonia. There are currently no effective treatments available, apart from symptomatic options. In this work, we suggest harnessing personalized RNA therapy to treat <i>GNAO1</i> patients and focus specifically on a recurrent pathogenic variant (E246K). We systemically screened allele-specific antisense oligonucleotides (ASOs) targeting the mutated allele to identify a potent and specific sequence using both reporter-based platforms and a patient-derived cellular model. We show that reduction of mutated <","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Mar","modification":"2026-06-01T10:26:10.579Z","creation":"2025-04-03T23:36:31.612Z"},"accession":"S-EPMC11787015","cross_references":{"pubmed":["39897576"],"doi":["10.1016/j.omtn.2024.102432"]}}