Evidence map›Paper›PMID 33531685›Full record

ReviewGene therapy2021

Genome editing for Duchenne muscular dystrophy: a glimpse of the future?

Christian Kupatt, Alina Windisch, Alessandra Moretti, Eckhard Wolf, Wolfgang Wurst, Maggie C Walter

Abstract readReview
In one paragraph

Review in Gene therapy, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing 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

21 citing papers in PubMed.

  1. Review
  2. Clinical applications of exon-skipping antisense oligonucleotides in neuromuscular diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Review
  3. Article
  4. Review
  5. Article
  6. Article
  7. Systemic deletion ofProceedings of the National Academy of Sciences of the United States of America · 2023
    Article
  8. Article
  9. Genome Editing and Pathological Cardiac Hypertrophy.Advances in experimental medicine and biology · 2023
    Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Article
  18. Review
  19. Review
  20. Review
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

6 authors.

Christian KupattKlinik und Poliklinik für Innere Medizin I, Klinikum rechts der Isar, Technical University Munich, Munich, Germany. christian.kupatt@tum.de.ORCID http://orcid.org/0000-0002-3611-1218
Alina WindischKlinik und Poliklinik für Innere Medizin I, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Alessandra MorettiKlinik und Poliklinik für Innere Medizin I, Klinikum rechts der Isar, Technical University Munich, Munich, Germany.
Eckhard WolfChair for Molecular Animal Breeding and Biotechnology, Gene Center and Department of Veterinary Sciences, and Center for Innovative Medical Models (CiMM), LMU Munich, Munich, Germany.
Wolfgang WurstInstitute of Development Genetics, Helmholtz-Centre Munich, Munich, Germany.
Maggie C WalterFriedrich Baur Institute, Department of Neurology, LMU Munich, Munich, Germany.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mutations in Dystrophin, one of the largest proteins in the mammalian body, are causative for a severe form of muscle disease, Duchenne Muscular Dystrophy (DMD), affecting not only skeletal muscle, but also the heart. In particular, exons 45-52 constitute a hotspot for DMD mutations. A variety of molecular therapies have been developed, comprising vectors encoding micro- and minidystrophins as well as utrophin, a protein with partially overlapping functions. With the advent of the CRISPR-Cas9-nuclease, genome editing offers a novel option of correction of the disease-cuasing mutations. Full restoration of the healthy gene by homology directed repair is a rare event. However, non-homologous end-joining (NHEJ) may restore the reading frame by causing exon excision. This approach has first been demonstrated in mice and then translated to large animals (dogs, pigs). This review discusses the potential opportunities and limitations of genome editing in DMD, including the generation of appropriate animal models as well as new developments in genome editing tools.

Indexed as

Muscular Dystrophy, DuchenneAnimalsCRISPR-Cas SystemsDisease Models, AnimalDogsGene EditingGenetic TherapyMiceSwine

Identifiers

PMID33531685
PMCPMC8455335

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.