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Targeting a Pathogenic Variant Creating an Upstream AUG in the ENG 5' Untranslated Region with Antisense Oligonucleotides Fails to Restore Protein Expression.

Nucleic acid therapeutics - 1 Feb 2026

Doisy Mathilde, Gaci Aris, Soukarieh Omar, Proust Carole, Trégouët David-Alexandre, Goyenvalle Aurélie

Abstract excerpt

Pathogenic variants creating upstream open reading frames (uORFs) in the 5' untranslated region (5'UTR) of the ENG gene can disrupt translation from the main ORF and contribute to hereditary hemorrhagic telangiectasia (HHT). This is the case of the ENG c.-79C>T that introduces a uAUG shown to decrease endoglin expression and associates with HHT. Here, we investigated whether 2'-O-methyl (2'OMe) antisense...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41248931
DOI: 10.1177/21593337251396711

Genes

ENG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 12 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Targeting a Pathogenic Variant Creating an Upstream AUG in the ENG 5' Untranslated Region with Antisense Oligonucleotides Fails to Restore Protein Expression.PMID 41248931Read ↗

Novel uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic TelangiectasiaSemantic proximity Read ↗

Novel uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic TelangiectasiaSemantic proximity Read ↗

uORF-targeting steric block antisense oligonucleotides do not reproducibly activate RNASEH1 expressionSemantic proximity Read ↗

Antisense-mediated splice intervention to treat human disease: the odyssey continuesSemantic proximity Read ↗

5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia.Semantic proximity Read ↗

Unveiling Endoglin non canonical regulation: spotlight on the new role of the uPAR pathwaySemantic proximity Read ↗

Overlapping upstream ORFs ending at c.125 lead to reduced Endoglin, contributing to Hereditary Hemorrhagic TelangiectasiaSemantic proximity Read ↗

uAUG creating variants in the 5’UTR of ENG causing Hereditary Hemorrhagic TelangiectasiaSemantic proximity Read ↗

Modulating splicing in 5’ untranslated regions to treat rare haploinsufficient diseaseSemantic proximity Read ↗

The Potential Role of MiRs-139-5p and -454-3p in Endoglin-Knockdown-Induced Angiogenic Dysfunction in HUVECsSemantic proximity Read ↗

Antisense Oligonucleotides Targeting Angiogenic Factors as Potential Cancer TherapeuticsSemantic proximity Read ↗

Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.Semantic proximity Read ↗

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