A5043124146- Muscle Physiology and Disorders
- Tissue Engineering and Regenerative Medicine
- Cardiomyopathy and Myosin Studies
- Adipose Tissue and Metabolism
- Mesenchymal stem cell research
- Genetic Neurodegenerative Diseases
- Neurogenetic and Muscular Disorders Research
- Neurological diseases and metabolism
- Congenital heart defects research
- Virus-based gene therapy research
- Mitochondrial Function and Pathology
- Veterinary Orthopedics and Neurology
- Spinal Dysraphism and Malformations
- Hereditary Neurological Disorders
- Cardiovascular Conditions and Treatments
- Nerve injury and regeneration
- Peripheral Neuropathies and Disorders
- Cardiovascular Effects of Exercise
- Head and Neck Surgical Oncology
- Nerve Injury and Rehabilitation
- Peripheral Nerve Disorders
- Metabolism and Genetic Disorders
- Genetic Syndromes and Imprinting
- Diet and metabolism studies
- Botulinum Toxin and Related Neurological Disorders
École Nationale Vétérinaire d'Alfort
2015-2024
Institut Mondor de Recherche Biomédicale
2015-2024
Université Paris-Est Créteil
2014-2024
Inserm
2015-2024
Agence Nationale des Fréquences
2019-2020
Hôpital Cochin
2020
Institute Mutualiste Montsouris
2018
University of Zurich
2017
EspeRare Foundation
2017
John Wiley & Sons (United States)
2017
Abstract Duchenne muscular dystrophy (DMD) is an incurable X-linked muscle-wasting disease caused by mutations in the dystrophin gene. Gene therapy using highly functional microdystrophin genes and recombinant adeno-associated virus (rAAV) vectors attractive strategy to treat DMD. Here we show that locoregional systemic delivery of a rAAV2/8 vector expressing canine (cMD1) effective restoring expression stabilizing clinical symptoms studies performed on total 12 treated golden retriever...
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder resulting from lesions of the gene encoding dystrophin. These usually consist large genomic deletions, extents which are not correlated with severity phenotype. Out-of-frame deletions give rise to dystrophin deficiency and severe DMD phenotypes, while internal that produce in-frame mRNAs truncated proteins can lead a milder myopathy known as Becker (BMD). Widespread restoration expression via adeno-associated virus...
Human centronuclear and myotubular myopathies belong to a genetically heterogeneous nosological group with clinical variability ranging from fatal disorder mild weakness. The severe X-linked form is attributed more than 200 different mutations in the myotubularin encoding gene (MTM1). In contrast, there are no reports regarding molecular etiology or linkage studies on autosomal forms of disease. Labrador retrievers affected by spontaneous myopathy (cnm) have histological features human...
Myostatin regulates skeletal muscle size via the activin receptor IIB (ActRIIB). However, its effect on energy metabolism and energy-dependent function remains largely unexplored. This question needs to be solved urgently since various therapies for neuromuscular diseases based blockade of ActRIIB signaling are being developed. Here, we show in mice, that 4-month pharmacological abrogation by treatment with soluble ActRIIB-Fc triggers extreme fatigability. is associated elevated serum...
Neuronal ceroid lipofuscinoses (NCLs) represent the most common group of inherited progressive encephalopathies in children. They are characterized by loss vision, mental and motor deterioration, epileptic seizures, premature death. Rare adult forms NCL with late onset known as Kufs’ disease. Loci underlying these remain unknown due to small number patients genetic heterogeneity. Here we confirm that a late-onset form recessively segregates US French pedigrees American Staffordshire Terrier...
Conditions such as muscular dystrophies (MDs) that affect both cardiac and skeletal muscles would benefit from therapeutic strategies enable regeneration of these striated muscle types. Protocols have been developed to promote induced pluripotent stem cells (iPSCs) differentiate toward or muscle; however, there are currently no simultaneously target Tissues exhibit specific epigenetic alterations; therefore, source-related lineage biases the potential improve iPSC-driven multilineage...
French Bulldog (FB) has significantly gained in popularity over the last few years, and seems to be frequently affected by various neurological conditions. The purpose of this retrospective study was report prevalences diseases a large population FB, presented with signs between 2002 2016, for which definitive diagnosis established. A secondary objective identify epidemiological characteristics regarding specific singular breed. During period, 533 FBs were signs, representing 18.7% all...
To assess the feasibility and validate use of video-electroencephalography (EEG) in conscious dogs cats to propose guidelines routine EEG veterinary clinical practice. Prospective study. One hundred fifty recordings were carried out adding-value, reproducibility, on 140 owned animals. one EEGs performed 49 cats. We compared with 8 unwired stud Ag/AgCl electrodes held by elastic straps wired cup Ag a tailor-made manufactured headset combined video-EEG device. Electrodes placement was...
Recombinant adeno-associated viruses (rAAVs) hold enormous potential for human gene therapy. Despite the well-established safety and efficacy of rAAVs in vivo transfer, there is still little information concerning fate vectors blood following systemic delivery. We screened serum proteins interacting with different AAV serotypes humans, macaques, dogs, mice. report that rAAV-1, -5, -6 but not rAAV-2, -7, -8, -9, -10 interact sera galectin 3 binding protein (hu-G3BP), a soluble scavenger...
The reduced diameter of skeletal myofibres is a hallmark several congenital myopathies, yet the underlying cellular and molecular mechanisms remain elusive. In this study, we investigate role HACD1/PTPLA, which involved in elongation very long chain fatty acids, muscle fibre formation. humans dogs, HACD1 deficiency leads to myopathy with size disproportion associated generalized weakness. Through analysis HACD1-deficient Labradors, Hacd1-knockout mice, Hacd1-deficient myoblasts, provide...
Abstract One of the main challenges in cell therapy for muscle diseases is to efficiently target muscle. To address this issue and achieve better understanding vivo fate, we evaluated relevance a non-invasive tracking method Golden Retriever Muscular Dystrophy (GRMD) model, well-recognised model Duchenne (DMD). Mesoangioblasts were directly labelled with 111 In-oxine, injected through one femoral arteries. The scintigraphy images obtained provided first quantitative mapping immediate...
This study evaluated the accuracy of a new stereotactic CT‐guided brain biopsy (SCTGBB) device on 23 client‐owned dogs which presented with lesion. Biopsy lesion was achieved in 95 per cent cases. The target tissue not sampled one dog. Complications were observed six dogs. Two highly vascularised brainstem tumours died after SCTGBB. Minor complications (slight variation neurological status) further four A diagnosis reached 16 cytological examination and 21 histological evaluation. SCTGBB is...
Abstract Objective —To quantify radial and longitudinal left ventricular free wall (LVFW) velocities in dogs during the preclinical phase of Golden Retriever muscular dystrophy (GRMD)-associated cardiomyopathy by use tissue Doppler imaging (TDI). Animals —9 with GRMD 6 healthy control dogs. Procedure —All (< 3 years old) were examined via conventional echocardiography 2-dimensional color TDI. Myocardial LVFW recorded from right parasternal short-axis (radial motion) apical 4-chamber...
Abstract In the translational process of developing innovative therapies for DMD (Duchenne muscular dystrophy), last pre-clinical validation step is often carried out in most relevant animal model this human disease namely GRMD (Golden retriever dystrophy) dog. dogs mimic disease,DMD, many aspects including inter-individual heterogeneity. This point can be seen as a drawback an but inherently related to its close resemblance patients. order improve management heterogeneity we have screened...
Duchenne Muscular Dystrophy (DMD), a muscle degenerative disease affecting young boys, arises from the loss of dystrophin. Current gene therapy approaches aim to restore shortened form dystrophin (microdystrophin) via Adeno-Associated Vector (AAV) delivery, but clinical studies show limited efficacy, emphasizing need for improved strategies such as combined therapies. In this study, we identified lysosomal perturbations in myofibers DMD patients and animal models, an overlooked mechanism...
( BJOG . 2024;131(6):759–767. https://doi.org/10.1111/1471-0528.17624) Myelomeningocele (MMC), also referred to as open spina bifida, is the most severe type of bifida and a significant abnormality in neural tube. It consists sac filled with fluid found on back infants linked dysfunction lower limbs, digestion, urinary systems, well possible cognitive impacts. Research conducted by MOMS revealed advantages prenatal repair for MMC compared surgery after birth, resulting widespread acceptance...