A5021866443- Neurogenetic and Muscular Disorders Research
- Amyotrophic Lateral Sclerosis Research
- RNA Research and Splicing
- Lysosomal Storage Disorders Research
- Virus-based gene therapy research
- Trypanosoma species research and implications
- biodegradable polymer synthesis and properties
- CRISPR and Genetic Engineering
- Prion Diseases and Protein Misfolding
- Nuclear Structure and Function
- Chromatin Remodeling and Cancer
- Cardiac Structural Anomalies and Repair
- Pluripotent Stem Cells Research
- Systemic Sclerosis and Related Diseases
- Eosinophilic Disorders and Syndromes
- Cellular Mechanics and Interactions
- Genetic Neurodegenerative Diseases
- MXene and MAX Phase Materials
- Biochemical and Molecular Research
- RNA Interference and Gene Delivery
Centre de Recherche en Myologie
2014-2020
Sorbonne Université
2014-2020
Inserm
2014-2020
Institut de Myologie
2015-2020
Université Paris Cité
2018
Centre National de la Recherche Scientifique
2014
Liver delivery of engineered GAA transgenes to mice with Pompe disease rescued glycogen accumulation in multiple tissues.
Systemic delivery of self-complementary (sc) adeno-associated-virus vector serotype 9 (AAV9) was recently shown to provide robust and widespread gene transfer the central nervous system (CNS), opening new avenues for practical, non-invasive therapy neurological diseases. More recently, AAV rh10 (AAVrh10) also found highly efficient mediate CNS transduction after intravenous administration in mice. However, only a few studies compared AAV9 AAVrh10 efficiencies, particularly spinal cord. In...
One of the most promising therapeutic approaches for familial amyotrophic lateral sclerosis linked to superoxide dismutase 1 (SOD1) is suppression toxic mutant SOD1 in affected tissues. Here, we report an innovative molecular strategy inducing substantial, widespread, and sustained reduction human (hSOD1) levels throughout body SOD1G93A mice, leading effects animals. Adeno-associated virus serotype rh10 vectors (AAV10) were used mediate exon skipping hSOD1 pre-mRNA by expression...
Hyper-activation of extracellular signal-regulated kinase (ERK) 1/2 contributes to heart dysfunction in cardiomyopathy caused by mutations the lamin A/C gene (LMNA cardiomyopathy). The mechanism how this affects cardiac function is unknown. We show that active phosphorylated ERK1/2 directly binds and catalyzes phosphorylation actin depolymerizing factor cofilin-1 on Thr25. Cofilin-1 becomes disassembles filaments a large array cellular animal models LMNA cardiomyopathy. In vivo expression...
Spinal muscular atrophy (SMA) is a rare developmental disorder affecting multiple tissues. Among the non-central nervous system tissues implicated in SMA skeletal system, including bone and cartilage. Low mineral density, increased numbers of fractures long bones vertebra, hip pain, scoliosis have been reported across spectrum patients. While lack ambulation likely contributes significantly to pathology, patients markedly lower density compared other non-ambulatory with debilitating diseases...
BackgroundPompe disease (PD) is a neuromuscular disorder caused by deficiency of acidalpha-glucosidase (GAA), leading to motor and respiratory dysfunctions. Available Gaa knock-out (KO) mouse models do not accurately mimic PD, particularly its highly impaired phenotype.MethodsHere we developed new model PD crossing KOB6;129 with DBA2/J mice. We subsequently treated KODBA2/J mice adeno-associated virus (AAV) vectors expressing secretable form GAA (secGAA).FindingsMale present most the key...
Fabry disease is a rare X-linked disorder affecting α-galactosidase A, rate-limiting enzyme in lysosomal catabolism of glycosphingolipids. Current treatments present important limitations, such as low half-life and limited distribution, which gene therapy can overcome. The aim this work was to test novel adeno-associated viral vector, serotype 9 (AAV9), ubiquitously expressing human A treat (scAAV9-PGK-GLA). vector preliminary tested newborns mouse model. 5 months after treatment, activity...