Evidence map›Paper›PMID 40879030›Full record

ArticleAnnals of neurology2026

Co-Opting MBNL-Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy.

Samuel T Carrell, Ellie M Carrell, Ryan Giovenco, Beverly L Davidson

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Annals of neurology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Samuel T CarrellDepartment of Neurology, University of Pennsylvania, Philadelphia, PA.
Ellie M CarrellRaymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA.
Ryan GiovencoRaymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA.
Beverly L DavidsonRaymond G. Perelman Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, PA.ORCID 0000-0002-3715-6290

Funding

Phenotypic Diversity in COVID-19UL1TR001878 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2016 to 2025
$102.4M
Research Training Program in Disease Oriented Neuroscience (R25)R25NS065745 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI DETRE, JOHN A · 2009 to 2023
$3.0M
NCATS NIH HHS UL1 TR001878NINDS NIH HHS R25 NS065745
6 · The paper itself

Abstract

objectiveMyotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3' untranslated region of DMPK. Toxicity is exerted by repeat-containing DMPK transcripts that sequester muscleblind-like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing. To contend with high phenotypic and molecular variability that complicate application of viral-based therapies, we develop and test a DM1-responsive genetic element to control viral-based therapeutic output.

methodsWe used MBNL-dependent cassette exons to generate adeno-associated virus (AAV)-compatible control elements (DMX

resultsDMX

interpretationDMX

Indexed as

Alternative SplicingExonsGenetic TherapyMyotonic DystrophyRNA-Binding ProteinsAnimalsDependovirusDisease Models, AnimalDNA-Binding ProteinsGenetic VectorsHumansInduced Pluripotent Stem CellsMiceMice, TransgenicMyotonin-Protein KinaseDNA-Binding ProteinsMBNL1 protein, humanMbnl1 protein, mouseMyotonin-Protein KinaseRNA-Binding Proteins

Identifiers

PMID40879030
PMCPMC12946605

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.