scholarly journals Erratum: Corrigendum: Identification of novel, therapy-responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamer-based serum proteomics

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Anna M. L. Coenen-Stass ◽  
Graham McClorey ◽  
Raquel Manzano ◽  
Corinne A. Betts ◽  
Alison Blain ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Model ◽  
Protein Biomarkers ◽  
Novel Therapy ◽  
Serum Proteomics

Identification of novel therapy-responsive protein biomarkers for Duchenne muscular dystrophy by aptamer-based serum proteomics

2015 ◽  
Vol 25 ◽  
pp. S251-S252
Author(s):  
A. Coenen-Stass ◽  
G. McClorey ◽  
R. Manzano ◽  
C. Betts ◽  
A. Blain ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Protein Biomarkers ◽  
Novel Therapy ◽  
Serum Proteomics

scholarly journals Identification of novel, therapy-responsive protein biomarkers in a mouse model of Duchenne muscular dystrophy by aptamer-based serum proteomics

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Anna M. L. Coenen-Stass ◽  
Graham McClorey ◽  
Raquel Manzano ◽  
Corinne A. Betts ◽  
Alison Blain ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Serum Proteins ◽  
Exon Skipping ◽  
Serum Levels ◽  
Wild Type ◽  
Protein Biomarkers ◽  
Novel Therapy ◽  
Serum Proteomics ◽  
Dystrophin Protein

Abstract There is currently an urgent need for biomarkers that can be used to monitor the efficacy of experimental therapies for Duchenne Muscular Dystrophy (DMD) in clinical trials. Identification of novel protein biomarkers has been limited due to the massive complexity of the serum proteome and the presence of a small number of very highly abundant proteins. Here we have utilised an aptamer-based proteomics approach to profile 1,129 proteins in the serum of wild-type and mdx (dystrophin deficient) mice. The serum levels of 96 proteins were found to be significantly altered (P < 0.001, q < 0.01) in mdx mice. Additionally, systemic treatment with a peptide-antisense oligonucleotide conjugate designed to induce Dmd exon skipping and recover dystrophin protein expression caused many of the differentially abundant serum proteins to be restored towards wild-type levels. Results for five leading candidate protein biomarkers (Pgam1, Tnni3, Camk2b, Cycs and Adamts5) were validated by ELISA in the mouse samples. Furthermore, ADAMTS5 was found to be significantly elevated in human DMD patient serum. This study has identified multiple novel, therapy-responsive protein biomarkers in the serum of the mdx mouse with potential utility in DMD patients.

scholarly journals Discovery of serum protein biomarkers in the mdx mouse model and cross-species comparison to Duchenne muscular dystrophy patients

2014 ◽  
Vol 23 (24) ◽  
pp. 6458-6469 ◽  
Author(s):  
Yetrib Hathout ◽  
Ramya L. Marathi ◽  
Sree Rayavarapu ◽  
Aiping Zhang ◽  
Kristy J. Brown ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Model ◽  
Serum Protein ◽  
Mdx Mouse ◽  
Species Comparison ◽  
Protein Biomarkers ◽  
Cross Species Comparison

scholarly journals In vivo genome editing in mouse restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Menglong Chen ◽  
Hui Shi ◽  
Shixue Gou ◽  
Xiaomin Wang ◽  
Lei Li ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Model ◽  
Genome Editing ◽  
Large Scale ◽  
Gene Editing ◽  
High Efficiency ◽  
Muscle Fibers ◽  
Muscle Cells

Abstract Background Mutations in the DMD gene encoding dystrophin—a critical structural element in muscle cells—cause Duchenne muscular dystrophy (DMD), which is the most common fatal genetic disease. Clustered regularly interspaced short palindromic repeat (CRISPR)-mediated gene editing is a promising strategy for permanently curing DMD. Methods In this study, we developed a novel strategy for reframing DMD mutations via CRISPR-mediated large-scale excision of exons 46–54. We compared this approach with other DMD rescue strategies by using DMD patient-derived primary muscle-derived stem cells (DMD-MDSCs). Furthermore, a patient-derived xenograft (PDX) DMD mouse model was established by transplanting DMD-MDSCs into immunodeficient mice. CRISPR gene editing components were intramuscularly delivered into the mouse model by adeno-associated virus vectors. Results Results demonstrated that the large-scale excision of mutant DMD exons showed high efficiency in restoring dystrophin protein expression. We also confirmed that CRISPR from Prevotella and Francisella 1(Cas12a)-mediated genome editing could correct DMD mutation with the same efficiency as CRISPR-associated protein 9 (Cas9). In addition, more than 10% human DMD muscle fibers expressed dystrophin in the PDX DMD mouse model after treated by the large-scale excision strategies. The restored dystrophin in vivo was functional as demonstrated by the expression of the dystrophin glycoprotein complex member β-dystroglycan. Conclusions We demonstrated that the clinically relevant CRISPR/Cas9 could restore dystrophin in human muscle cells in vivo in the PDX DMD mouse model. This study demonstrated an approach for the application of gene therapy to other genetic diseases.

scholarly journals Functional and Molecular Effects of Arginine Butyrate and Prednisone on Muscle and Heart in the mdx Mouse Model of Duchenne Muscular Dystrophy

PLoS ONE ◽  
2010 ◽  
Vol 5 (6) ◽  
pp. e11220 ◽  
Author(s):  
Alfredo D. Guerron ◽  
Rashmi Rawat ◽  
Arpana Sali ◽  
Christopher F. Spurney ◽  
Emidio Pistilli ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Model ◽  
Mdx Mouse ◽  
Molecular Effects ◽  
Arginine Butyrate

Wnt signaling pathway improves central inhibitory synaptic transmission in a mouse model of Duchenne muscular dystrophy

2016 ◽  
Vol 86 ◽  
pp. 109-120 ◽  
Author(s):  
Marco Fuenzalida ◽  
Claudia Espinoza ◽  
Miguel Ángel Pérez ◽  
Cheril Tapia-Rojas ◽  
Loreto Cuitino ◽  
...  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Mouse Model ◽  
Synaptic Transmission ◽  
Wnt Signaling ◽  
Signaling Pathway ◽  
Wnt Signaling Pathway ◽  
Inhibitory Synaptic Transmission
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