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Dataset results
54 results for “Dystrophin”
Dose-Ranging Study of AVI-4658 to Induce Dystrophin Expression in Selected Duchenne Muscular Dystrophy (DMD) Patients
ClinicalTrials.gov study NCT00844597. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Efficacy Study of AVI-4658 to Induce Dystrophin Expression in Selected Duchenne Muscular Dystrophy Patients
ClinicalTrials.gov study NCT01396239. IPD Sharing: Not stated. Countries: 1. Publications: 2.
Data from: Increased Dystrophin Production With Golodirsen in Patients with Duchenne Muscular Dystrophy
<p>Objective To report safety, pharmacokinetics, exon 53 skipping, and dystrophin expression in golodirsen-treated patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping. Methods Part 1 was a randomized, double-blind, placebo-controlled, 12-week dose titration of once-weekly golodirsen; Part 2 is an ongoing, open-label evaluation. Safety and pharmacokinetics were primary and secondary objectives of Part 1. Primary biological outcome measures of part 2 were blinded exon skipping and dystrophin protein production on muscle biopsies (baseline, Week 48) evaluated, respectively using reverse transcription PCR and western blot and immunohistochemistry. Results Twelve patients were randomized to receive golodirsen (n=8) or placebo (n=4) in Part 1. All from Part 1 plus 13 additional patients received 30 mg/kg golodirsen in Part 2. Safety findings were consistent with those previously observed in pediatric DMD patients. Most of the study drug was excreted within 4 hours following administration. A significant increase in exon 53 skipping was associated with ~16-fold increase over baseline in dystrophin protein expression at Week 48, with a mean percent normal dystrophin protein standard of 1.019% (range, 0.09%-4.30%). Sarcolemmal localization of dystrophin was demonstrated by significantly increased dystrophin positive fibers (Week 48, p<0.001); and a positive correlation (Spearman-r=0.663; p<0.001) between dystrophin protein change from baseline, measured by western blot and immunohistochemistry.</p>
Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression
<p class="Paragraph">Tandem duplication mutations are increasingly found to be the direct cause of many rare heritable diseases, accounting for up to 10% of cases. Unfortunately, animal models recapitulating such mutations are scarce, limiting our ability to study them and develop genome editing-based therapies. Here, we describe the generation of the <em>Dup18-30 </em>mouse model, harbouring a multi-exonic tandem duplication in the <i>Dmd</i> gene which recapitulates a human mutation. Duplication correction of this mouse was achieved by implementing a single-guide RNA (sgRNA) CRISPR/Cas9 approach. This strategy precisely removed a duplication mutation <i>in vivo</i>, restored full-length dystrophin expression, and was accompanied by improvements in both histopathological and clinical phenotypes. We conclude that CRISPR/Cas9 represents a powerful tool to accurately model and treat tandem-duplication mutations. </p> <p class="Paragraph">This dataset includes the deep amplicon sequencing analysis performed to detect single-sgRNA/Cas9 off-target and on-target effects in the <em>Dup18-30</em> mice after treatment.</p>
Clinical Intramuscular Gene Transfer Trial of rAAVrh74.MCK.Micro-Dystrophin to Patients With Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT02376816. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Safety Study of Mini-dystrophin Gene to Treat Duchenne Muscular Dystrophy
ClinicalTrials.gov study NCT00428935. IPD Sharing: Not stated. Countries: 1. Publications: 4.
Data from: Cardiac dysfunction in Duchenne muscular dystrophy is less frequent in patients with mutations in the dystrophin Dp116 coding region than in other regions
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Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression
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Data from: Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
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Data from: In vivo dynamics of skeletal muscle Dystrophin in zebrafish embryos revealed by improved FRAP analysis
Dystrophin forms an essential link between sarcolemma and cytoskeleton, perturbation of which causes muscular dystrophy. We analysed Dystrophin binding dynamics in vivo for the first time. Within maturing fibres of host zebrafish embryos, our analysis reveals a pool of diffusible Dystrophin and complexes bound at the fibre membrane. Combining modelling, an improved FRAP methodology and direct semi-quantitative analysis of bleaching suggests the existence of two membrane-bound Dystrophin populations with widely differing bound lifetimes: a stable, tightly bound pool, and a dynamic bound pool with high turnover rate that exchanges with the cytoplasmic pool. The three populations were found consistently in human and zebrafish Dystrophins overexpressed in wild-type or dmdta222a/ta222a zebrafish embryos, which lack Dystrophin, and in Gt(dmd-Citrine)ct90a that express endogenously-driven tagged zebrafish Dystrophin. These results lead to a new model for Dystrophin membrane association in developing muscle, and highlight our methodology as a valuable strategy for in vivo analysis of complex protein dynamics.
Correction of multiexon deletion mutation in human dystrophin by Cas12i editing
<p>Because the file exceeds 200 MB, these supplementary files are uploaded to <a href="https://zenodo.org/"><strong>Zenodo</strong></a>. </p>
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren
ClinicalTrials.gov study NCT03796637. IPD Sharing: Not stated. Countries: 1. Publications: 0.
A Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)
ClinicalTrials.gov study NCT03648827. IPD Sharing: Not stated. Countries: 1. Publications: 0.
Data from: Influence of full-length dystrophin on brain volumes in mouse models of Duchenne muscular dystrophy
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Data from: In vivo dynamics of skeletal muscle Dystrophin in zebrafish embryos revealed by improved FRAP analysis
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Lack of dystrophin disrupts fetal muscle stem cell polarity and commitment during secondary myogenesis
GEO Series GSE274925. Mus musculus. 4 samples. Type: Expression profiling by high throughput sequencing.
A novel IRES identified in DMD results in a functional N-truncated dystrophin, providing a potential route to therapy for patients with 5’ mutations.
GEO Series GSE56148. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing; Other.
Dystrophin deficiency hampers cell state transitions during somite development
GEO Series GSE233606. Homo sapiens. 1 samples. Type: Expression profiling by high throughput sequencing.
A NEW DYSTROPHIN DEFICIENT RAT MODEL MIRRORING EXON SKIPPING IN PATIENTS WITH DMD EXON 45 DELETIONS
GEO Series GSE308065. Rattus norvegicus. 48 samples. Type: Expression profiling by high throughput sequencing.
The DMD locus harbours multiple long non-coding RNAs which orchestrate and control transcription of muscle dystrophin mRNA isoforms
GEO Series GSE27068. Homo sapiens. 8 samples. Type: Expression profiling by genome tiling array; Non-coding RNA profiling by genome tiling array.
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DANDI Archive for NWB datasets
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International Brain Laboratory public data
The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
OpenNeuro
OpenNeuro is a free, open platform for sharing neuroimaging datasets, with public search, dataset pages, and download paths for web, S3, DataLad, and the OpenNeuro CLI.