A5014520936- Muscle Physiology and Disorders
- Intraocular Surgery and Lenses
- Adipose Tissue and Metabolism
- Virus-based gene therapy research
- CRISPR and Genetic Engineering
- Retinal and Macular Surgery
- Tissue Engineering and Regenerative Medicine
- RNA Research and Splicing
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Telomeres, Telomerase, and Senescence
- Cardiomyopathy and Myosin Studies
- Glaucoma and retinal disorders
- Genomics and Chromatin Dynamics
- 3D Printing in Biomedical Research
- Muscle metabolism and nutrition
- Retinal and Optic Conditions
- Ocular Diseases and Behçet’s Syndrome
- Semantic Web and Ontologies
- Botulinum Toxin and Related Neurological Disorders
- Single-cell and spatial transcriptomics
- Otitis Media and Relapsing Polychondritis
- GDF15 and Related Biomarkers
- Ocular Oncology and Treatments
- Signaling Pathways in Disease
University of California, Los Angeles
2015-2023
Pediatrics and Genetics
2023
Aix-Marseille Université
2011-2015
Inserm
2010-2015
Génétique Médicale & Génomique Fonctionelle
2014
Institut de Neurobiologie de la Méditerranée
2010
Antisense oligonucleotide (AON)-mediated exon skipping is an emerging therapeutic for individuals with Duchenne muscular dystrophy (DMD). Skipping of exons adjacent to common deletions in DMD using AONs can produce in-frame transcripts and functional protein. Targeted 8, 44, 45, 50, 51, 52, 53, 55 predicted benefit 47% affected individuals. We observed a correlation between mutation subgroups age at loss ambulation the Registry, large database phenotypic genetic data (N = 765). Males...
Abstract In Duchenne muscular dystrophy, dystrophin loss leads to chronic muscle damage, dysregulation of repair, fibro-fatty replacement, and weakness. We develop methodology efficiently isolate individual nuclei from minute quantities frozen skeletal muscle, allowing single sequencing irreplaceable archival samples very small samples. apply this method identify cell gene expression dynamics within human DMD mdx mouse characterizing effects rescue by exon skipping therapy at resolution. 23...
Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes.They associated molecular defects in DYSF, which encodes dysferlin, key player sarcolemmal homeostasis.Previous investigations have suggested that exon skipping may be promising therapy for subset patients dysferlinopathies.Such an approach aims to rescue functional proteins when targeting modular specific tissues.We sought evaluate dysferlin recovery following 32 cells...
Serial muscle biopsies within clinical trials for Duchenne muscular dystrophy (DMD) are critical to document therapeutic responses. Less invasive means of sampling needed. We analyzed a retrospective consecutive case-series cohort vacuum-assisted core needle biopsy procedures performed on healthy and dystrophic individuals at single institution assessing safety reliability obtaining sufficient high-quality tissue histologic assessment in adult pediatric subjects. Of 471 cores from 128...
Abstract Emerging and promising therapeutic interventions for Duchenne muscular dystrophy (DMD) are confounded by the challenges of quantifying dystrophin. Current approaches have poor precision, require large amounts tissue, difficult to standardize. This paper presents an immuno-mass spectrometry imaging method using gadolinium (Gd)-labeled anti-dystrophin antibodies laser ablation-inductively coupled plasma-mass simultaneously quantify localize dystrophin in muscle sections. Gd is...
Human muscle biopsies are increasingly important for diagnosis, research, and to monitor therapeutic trials.We examined the use of a self-contained, vacuum-assisted biopsy system novel freezing technique improve, simplify, standardize human collection cryopreservation in older adults.The VACORA was deployed 12 individuals ranging age from 57 80 years.This office-based approach well tolerated as it is minimally invasive, uses only local anesthetic, has quick recovery.To maximize sample...
In Europe, an open government data ecosystem is being developed. This implemented using various technologies and platforms. fact, the use of a common metadata standard for describing datasets portals, i.e., DCAT-AP specification, appears as lingua franca that connects an, otherwise, fragmented environment. this context, standard-based consolidation promotes subsidiarity principle, allowing portal owners to choose platforms internal representations based on their specific requirements....
In vitro models of patient-derived muscle allow for more efficient development genetic medicines the muscular dystrophies, which often present mutation-specific pathologies. One popular strategy to generate patient-specific myotubes involves reprogramming dermal fibroblasts a lineage through MyoD induction. However, creating physiologically relevant, reproducible tissues exhibiting multinucleated, aligned with organized striations is dependent on introduction physicochemical cues that mimic...
Muscle damage and fibro-fatty replacement of skeletal muscles is a main pathologic feature Duchenne muscular dystrophy (DMD) with more proximal affected earlier distal later in the disease course, suggesting that different muscle groups possess distinctive characteristics influence their susceptibility to disease. To explore transcriptomic factors driving differential gene expression modulating DMD severity, we characterized transcriptome vastus lateralis (VL), susceptible muscle, relative...
Abstract Background Human muscle biopsies are increasingly important for diagnosis, research, and to monitor therapeutic trials. We examined the use of a self-contained, vacuum-assisted biopsy system novel freezing technique improve, simplify, standardize human collection cryopreservation in older adults. Methods The Vacora was deployed 12 individuals ranging age from 57 80 years. This office-based approach well tolerated as it is minimally invasive, uses only local anesthetic, has quick...