CoChat
Sign Up
Cited by 32

The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.

Promising therapeutic approaches using CRISPR/Cas9 genome editing technology in the treatment of Duchenne muscular dystrophy

Mollanoori, Hasan, Rahmati, Yazdan, Hassani, Bita, Havasi Mehr, Meysam, Teimourian, Shahram·2021·Genes & Diseases
DOI 10.1016/j.gendis.2019.12.007PMC PMC8099695
Open this paper in CoChat — free account

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1016/j.gendis.2019.12.007

Cites

4 of 4 references verified0 citation errors · 0 not checkable

Statistics

Figures

Figure 1 Schematic mechanism of CRISPR/cas9 in genomic editing. Cas9 nuclease guided by a gRNA to a target DNA site adjacent to PAM. The Cas9-gRNA complex generates a double-strand break, which is repaired by non-homologous end joining or homology-directed repair.
Figure 1 Schematic mechanism of CRISPR/cas9 in genomic editing. Cas9 nuclease guided by a gRNA to a target DNA site adjacent to PAM. The Cas9-gRNA complex generates a double-strand break, which is repaired by non-homologous end joining or homology-directed repair.CC BY-NC-ND · PubMed Central
Figure 2 (A) On the top; schematic outline of the dystrophin gene, located in Xp21. The black vertical lines represent the 79 exons of the dystrophin gene. The arrows indicate different promoters used in different tissues. In the middle; the 14-kb dystrophin cDNA, the numbers in the cDNA refers to exon number. In the bottom; full-length dystrophin contains an actin binding domain 1 (ABD1), 24 spectrin-like repeats (R1 to R24), four hinges (H1 toH4), a cysteine-rich domain (CR), and a C-terminal domain (CT). (B) The consequence of various types of DMD mutations on dystrophin expression and the subsequent phenotype. ABD1, actin-binding domain 1; CR, cysteine-rich domain; CT, C-terminal domain; NT, N-terminal domain; UTR, untranslated region.
Figure 2 (A) On the top; schematic outline of the dystrophin gene, located in Xp21. The black vertical lines represent the 79 exons of the dystrophin gene. The arrows indicate different promoters used in different tissues. In the middle; the 14-kb dystrophin cDNA, the numbers in the cDNA refers to exon number. In the bottom; full-length dystrophin contains an actin binding domain 1 (ABD1), 24 spectrin-like repeats (R1 to R24), four hinges (H1 toH4), a cysteine-rich domain (CR), and a C-terminal domain (CT). (B) The consequence of various types of DMD mutations on dystrophin expression and the subsequent phenotype. ABD1, actin-binding domain 1; CR, cysteine-rich domain; CT, C-terminal domain; NT, N-terminal domain; UTR, untranslated region.CC BY-NC-ND · PubMed Central
Figure 3 A schematic view of DMD gene correction by CRISPR/Cas9. (A) Precise correction of DMD gene mediated by HDR approach in a hypothetical patient with a point mutation in exon 23 (marked by an X) that creates a premature stop codon. (B) On the top; Direct and Classical exon skipping mediated by NHEJ approach in a hypothetical patient with a point mutation in exon 48 (marked by an X) that creates a premature stop codon. In the bottom; reframing an out of frame mutation in a hypothetical patient with a point mutation in exon 48 mediated by NHEJ and reframing of a duplication mutation in a hypothetical patient with duplication of exon 18 to 30 (duplicated exons mark with green). Boxes represent exons; lines between boxes represent introns.
Figure 3 A schematic view of DMD gene correction by CRISPR/Cas9. (A) Precise correction of DMD gene mediated by HDR approach in a hypothetical patient with a point mutation in exon 23 (marked by an X) that creates a premature stop codon. (B) On the top; Direct and Classical exon skipping mediated by NHEJ approach in a hypothetical patient with a point mutation in exon 48 (marked by an X) that creates a premature stop codon. In the bottom; reframing an out of frame mutation in a hypothetical patient with a point mutation in exon 48 mediated by NHEJ and reframing of a duplication mutation in a hypothetical patient with duplication of exon 18 to 30 (duplicated exons mark with green). Boxes represent exons; lines between boxes represent introns.CC BY-NC-ND · PubMed Central

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Show all 4 references

Research works printed but not linked: 63

  1. Sussman, 2002, Duchenne muscular dystrophy, J Am Acad Orthop Surg, 10, 138, 10.5435/00124635-200203000-00009 · DOI
  2. Zhang, 2019, Molecular genetic testing and diagnosis strategies for dystrophinopathies in the era of next generation sequencing, Clin Chim Acta, 491, 66, 10.1016/j.cca.2019.01.014 · DOI
  3. Guiraud, 2015, The pathogenesis and therapy of muscular dystrophies, Annu Rev Genom Hum Genet, 16, 281, 10.1146/annurev-genom-090314-025003 · DOI
  4. Nallamilli, 2014, Molecular diagnosis of Duchenne muscular dystrophy, Curr Protoc Hum Genet, 83
  5. Lapidos, 2004, The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma, Circ Res, 94, 1023, 10.1161/01.RES.0000126574.61061.25 · DOI
  6. Mendell, 2016, Duchenne muscular dystrophy: CRISPR/Cas9 treatment, Cell Res, 26, 513, 10.1038/cr.2016.28 · DOI
  7. Salmaninejad, 2018, Duchenne muscular dystrophy: an updated review of common available therapies, Int J Neurosci, 128, 854, 10.1080/00207454.2018.1430694 · DOI
  8. Doudna, 2014, Genome editing. The new frontier of genome engineering with CRISPR-Cas9, Science, 346, e1258096, 10.1126/science.1258096 · DOI · Paper page
  9. Mollanoori, 2018, CRISPR/Cas9 and CAR-T cell, collaboration of two revolutionary technologies in cancer immunotherapy, an instruction for successful cancer treatment, Hum Immunol, 79, 876, 10.1016/j.humimm.2018.09.007 · DOI
  10. Teimourian, 2015, Technology developments in biological tools for targeted genome surgery, Biotechnol Lett, 37, 29, 10.1007/s10529-014-1656-5 · DOI
  11. Chamberlain, 2017, Progress toward gene therapy for Duchenne muscular dystrophy, Mol Ther: J Am Soc Gene Ther, 25, 1125, 10.1016/j.ymthe.2017.02.019 · DOI
  12. Bladen, 2015, The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations, Hum Mutat, 36, 395, 10.1002/humu.22758 · DOI
  13. Nance, 2018, Nanotherapy for Duchenne muscular dystrophy, Wiley interdisciplinary Rev Nanomedicine Nanobiotechnol, 10, 1, 10.1002/wnan.1472 · DOI
  14. Aartsma-Rus, 2006, Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule, Muscle Nerve, 34, 135, 10.1002/mus.20586 · DOI
  15. Koenig, 1989, The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion, Am J Hum Genet, 45, 498
  16. Bladen, 2013, The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia, Hum Mutat, 34, 1449, 10.1002/humu.22390 · DOI
  17. Koenig, 1987, Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals, Cell, 50, 509, 10.1016/0092-8674(87)90504-6 · DOI · Paper page
  18. Duan, 2008, Myodys, a full-length dystrophin plasmid vector for Duchenne and Becker muscular dystrophy gene therapy, Curr Opin Mol Ther, 10, 86
  19. Wolff, 1990, Direct gene transfer into mouse muscle in vivo, Science, 247, 1465, 10.1126/science.1690918 · DOI · Paper page
  20. Acsadi, 1991, Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs, Nature, 352, 815, 10.1038/352815a0 · DOI
  21. Chamberlain, 2002, Gene therapy of muscular dystrophy, Hum Mol Genet, 11, 2355, 10.1093/hmg/11.20.2355 · DOI
  22. Yuasa, 1997, Introduction of rod-deleted dystrophin cDNA, delta DysM3, into mdx skeletal muscle using adenovirus vector, Jpn J Clin Med, 55, 3148
  23. Lai, 2009, Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy, J Clin Investig, 119, 624, 10.1172/JCI36612 · DOI
  24. Verhaart, 2019, Therapeutic developments for Duchenne muscular dystrophy, Nat Rev Neurol, 15, 373, 10.1038/s41582-019-0203-3 · DOI
  25. Mann, 2001, Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse, Proc Natl Acad Sci USA, 98, 42, 10.1073/pnas.98.1.42 · DOI
  26. van Deutekom, 2001, Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells, Hum Mol Genet, 10, 1547, 10.1093/hmg/10.15.1547 · DOI
  27. Lu, 2005, Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles, Proc Natl Acad Sci USA, 102, 198, 10.1073/pnas.0406700102 · DOI
  28. Chicoine, 2014, Vascular delivery of rAAVrh74.MCK.GALGT2 to the gastrocnemius muscle of the rhesus macaque stimulates the expression of dystrophin and laminin alpha 2 surrogates, Mol Ther: J Am Soc Gene Ther, 22, 713, 10.1038/mt.2013.246 · DOI
  29. Mollanoori, 2018, Therapeutic applications of CRISPR/Cas9 system in gene therapy, Biotechnol Lett, 40, 907, 10.1007/s10529-018-2555-y · DOI
  30. Bengtsson, 2017, Muscle-specific CRISPR/Cas9 dystrophin gene editing ameliorates pathophysiology in a mouse model for Duchenne muscular dystrophy, Nat Commun, 8, e14454, 10.1038/ncomms14454 · DOI · Paper page
  31. Zhu, 2017, CRISPR/Cas9-Mediated genome editing corrects dystrophin mutation in skeletal muscle stem cells in a mouse model of muscle dystrophy, Mol Ther Nucleic Acids, 7, 31, 10.1016/j.omtn.2017.02.007 · DOI
  32. Long, 2014, Prevention of muscular dystrophy in mice by CRISPR/Cas9–mediated editing of germline DNA, Science, 345, 1184, 10.1126/science.1254445 · DOI · Paper page
  33. Lee, 2017, Nanoparticle delivery of Cas9 ribonucleoprotein and donor DNA in vivo induces homology-directed DNA repair, Nat Biomed Eng, 1, 889, 10.1038/s41551-017-0137-2 · DOI · Paper page
  34. Jasin, 2013, Repair of strand breaks by homologous recombination, Cold Spring Harbor Perspect Biol, 5, a012740, 10.1101/cshperspect.a012740 · DOI
  35. Aartsma-Rus, 2009, Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations, Hum Mutat, 30, 293, 10.1002/humu.20918 · DOI
  36. Nelson, 2016, In vivo genome editing improves muscle function in a mouse model of Duchenne muscular dystrophy, Science, 351, 403, 10.1126/science.aad5143 · DOI · Paper page
  37. Tabebordbar, 2016, In vivo gene editing in dystrophic mouse muscle and muscle stem cells, Science, 351, 407, 10.1126/science.aad5177 · DOI · Paper page
  38. Long, 2016, Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy, Science, 351, 400, 10.1126/science.aad5725 · DOI
  39. Xu, 2016, CRISPR-mediated genome editing restores dystrophin expression and function in mdx mice, Mol Ther: J Am Soc Gene Ther, 24, 564, 10.1038/mt.2015.192 · DOI · Paper page
  40. El Refaey, 2017, In vivo genome editing restores dystrophin expression and cardiac function in dystrophic mice, Circ Res, 121, 923, 10.1161/CIRCRESAHA.117.310996 · DOI
  41. Nakamura, 2016, Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy, J Hum Genet, 61, 663, 10.1038/jhg.2016.28 · DOI
  42. Kyrychenko, 2017, Functional correction of dystrophin actin binding domain mutations by genome editing, JCI insight, 2, e95918, 10.1172/jci.insight.95918 · DOI
  43. Ousterout, 2015, Multiplex CRISPR/Cas9-based genome editing for correction of dystrophin mutations that cause Duchenne muscular dystrophy, Nat Commun, 6, e6244, 10.1038/ncomms7244 · DOI · Paper page
  44. Ehrke-Schulz, 2017, CRISPR/Cas9 delivery with one single adenoviral vector devoid of all viral genes, Sci Rep, 7, e17113, 10.1038/s41598-017-17180-w · DOI
  45. Maggio, 2016, Adenoviral vectors encoding CRISPR/Cas9 multiplexes rescue dystrophin synthesis in unselected populations of DMD muscle cells, Sci Rep, 6, e37051, 10.1038/srep37051 · DOI
  46. Maggio, 2016, Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations, Nucleic Acids Res, 44, 1449, 10.1093/nar/gkv1540 · DOI
  47. Young, 2017, Creation of a novel humanized dystrophic mouse model of Duchenne muscular dystrophy and application of a CRISPR/Cas9 gene editing therapy, J Neuromuscul Dis, 4, 139, 10.3233/JND-170218 · DOI
  48. Young, 2016, A single CRISPR-cas9 deletion strategy that targets the majority of DMD patients restores dystrophin function in hiPSC-derived muscle cells, Cell stem cell, 18, 533, 10.1016/j.stem.2016.01.021 · DOI
  49. Long, 2018, Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing, Sci Adv, 4, 10.1126/sciadv.aap9004 · DOI
  50. Amoasii, 2017, Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy, Sci Transl Med, 9, 10.1126/scitranslmed.aan8081 · DOI · Paper page
  51. Min, 2019, CRISPR-Cas9 corrects Duchenne muscular dystrophy exon 44 deletion mutations in mice and human cells, Sci Adv, 5, eaav4324, 10.1126/sciadv.aav4324 · DOI
  52. Koo, 2018, Functional rescue of dystrophin deficiency in mice caused by frameshift mutations using Campylobacter jejuni Cas9, Mol Ther: J Am Soc Gene Ther, 26, 1529, 10.1016/j.ymthe.2018.03.018 · DOI
  53. Tuffery-Giraud, 2009, Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase, Hum Mutat, 30, 934, 10.1002/humu.20976 · DOI
  54. Lattanzi, 2017, Correction of the exon 2 duplication in DMD myoblasts by a single CRISPR/Cas9 system, Mol Ther Nucleic Acids, 7, 11, 10.1016/j.omtn.2017.02.004 · DOI
  55. Wojtal, 2016, Spell checking nature: versatility of CRISPR/Cas9 for developing treatments for inherited disorders, Am J Hum Genet, 98, 90, 10.1016/j.ajhg.2015.11.012 · DOI · Paper page
  56. Nicholson, 1993, Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups, J Med Genet, 30, 728, 10.1136/jmg.30.9.728 · DOI
  57. van Putten, 2013, Low dystrophin levels increase survival and improve muscle pathology and function in dystrophin/utrophin double-knockout mice, FASEB (Fed Am Soc Exp Biol) J, 27, 2484
  58. Qi, 2013, Repurposing CRISPR as an RNA-guided platform for sequence-specific control of gene expression, Cell, 152, 1173, 10.1016/j.cell.2013.02.022 · DOI · Paper page
  59. Rafael, 1998, Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice, Nat Genet, 19, e79, 10.1038/ng0598-79 · DOI
  60. Fairclough, 2013, Therapy for Duchenne muscular dystrophy: renewed optimism from genetic approaches, Nat Rev Genet, 14, e373, 10.1038/nrg3460 · DOI
  61. Liao, 2017, In vivo target gene activation via CRISPR/Cas9-Mediated trans-epigenetic modulation, Cell, 171, 1495, 10.1016/j.cell.2017.10.025 · DOI · Paper page
  62. Perrin, 2017, Increased expression of laminin subunit alpha 1 chain by dCas9-VP160, Mol Ther Nucleic Acids, 6, 68, 10.1016/j.omtn.2016.11.004 · DOI
  63. Nelson, 2019, Long-term evaluation of AAV-CRISPR genome editing for Duchenne muscular dystrophy, Nat Med, 25, 427, 10.1038/s41591-019-0344-3 · DOI

Cited by

Sorted by citations

Metadata

Authors
Mollanoori, H., Rahmati, Y., Hassani, B., Havasi Mehr, M., & Teimourian, S.
ORCID
Teimourian, Shahram
Venue
Genes & Diseases
Publisher
Elsevier BV
Published
2021-03
Volume
8
Issue
2
Pages
146-156
ISSN
2352-3042
DOI
10.1016/j.gendis.2019.12.007
PMC
PMC8099695
Cited by
32
References
4
Language
en
Licence

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review