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Record W4410521520 · doi:10.1038/s41551-025-01399-4

Treatment of a metabolic liver disease in mice with a transient prime editing approach

2025· article· en· W4410521520 on OpenAlexaff
Tanja Rothgangl, András Tálas, Eleonora I. Ioannidi, Yanik Weber, Desirée Böck, Mai Matsushita, Elina Andrea Villiger, Lukas Schmidheini, Woohyun J Moon, Paulo J.C. Lin, Steven H.Y. Fan, Kim Fabiano Marquart, Cornelia Schwerdel, Nicole Rimann, Erica Faccin, Lukas Villiger, Hiromi Muramatsu, Máté Vadovics, Alessio Cremonesi, Péter István Kulcsár, Beat Thöny, Manfred Köpf, Johannes Häberle, Norbert Pardi, Ying K. Tam, Gerald Schwank

Bibliographic record

VenueNature Biomedical Engineering · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCRISPR and Genetic Engineering
Canadian institutionsAcuitas Therapeutics (Canada)
FundersNational Institute of Allergy and Infectious DiseasesUniversität ZürichNovartis Stiftung für Medizinisch-Biologische ForschungEidgenössische Technische Hochschule ZürichStaatssekretariat für Bildung, Forschung und InnovationNovartis FoundationSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungNational Institutes of HealthNational Science Foundation
KeywordsGenome editingRNA editingRNAMessenger RNALocus (genetics)In vivoMolecular biologyComputational biologyChemistryBiologyGeneGeneticsBiochemistryGenome

Abstract

fetched live from OpenAlex

Abstract Prime editing is a versatile genome editing technology that circumvents the need for DNA double-strand break formation and homology-directed repair, making it particularly suitable for in vivo correction of pathogenic mutations. Here we developed liver-specific prime editing approaches with temporally restricted prime editor (PE) expression. We first established a dual-delivery approach where the prime editor guide RNA is continuously expressed from adeno-associated viral vectors and only the PE is transiently delivered as nucleoside-modified mRNA encapsulated in lipid nanoparticles (LNP). This strategy achieved 26.2% editing with PEmax and 47.4% editing with PE7 at the Dnmt1 locus using a single 2 mg kg −1 dose of mRNA–LNP. When targeting the pathogenic Pah enu2 mutation in a phenylketonuria mouse model, gene correction rates reached 4.3% with PEmax and 20.7% with PE7 after three doses of 2 mg kg −1 mRNA–LNP, effectively reducing blood l -phenylalanine levels from over 1,500 µmol l −1 to below the therapeutic threshold of 360 µmol l −1 . Encouraged by the high efficiency of PE7, we next explored a simplified approach where PE7 mRNA was co-delivered with synthetic prime editor guide RNAs encapsulated in LNP. This strategy yielded 35.9% editing after two doses of RNA–LNP at the Dnmt1 locus and 8.0% editing after three doses of RNA–LNP at the Pah enu2 locus, again reducing l -phenylalanine levels below 360 µmol l −1 . These findings highlight the therapeutic potential of mRNA–LNP-based prime editing for treating phenylketonuria and other genetic liver diseases, offering a scalable and efficient platform for future clinical translation.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.002
Threshold uncertainty score0.007

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0020.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.002
GPT teacher head0.238
Teacher spread0.236 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designBench or experimental
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations21
Published2025
Admission routes1
Has abstractyes

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