A5057410208- Muscle Physiology and Disorders
- Virus-based gene therapy research
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Ion Transport and Channel Regulation
- Cardiomyopathy and Myosin Studies
- Animal Genetics and Reproduction
- Adipose Tissue and Metabolism
- Ion Channels and Receptors
- Myasthenia Gravis and Thymoma
- Tissue Engineering and Regenerative Medicine
- Inflammatory Myopathies and Dermatomyositis
- Wnt/β-catenin signaling in development and cancer
- Vitamin C and Antioxidants Research
- Hypertrophic osteoarthropathy and related conditions
- Nuclear Structure and Function
- ATP Synthase and ATPases Research
- Ion channel regulation and function
- Conducting polymers and applications
- Congenital heart defects research
- Aldose Reductase and Taurine
- Exercise and Physiological Responses
- Metabolism, Diabetes, and Cancer
- Hormonal Regulation and Hypertension
- Developmental Biology and Gene Regulation
École Nationale Vétérinaire d'Alfort
2011-2022
Inserm
2009-2022
Institut Mondor de Recherche Biomédicale
2015-2022
Université Paris-Est Créteil
2015-2022
Université Paris Cité
2016
Établissement Français du Sang
2015
Hôpitaux Universitaires Henri-Mondor
2015
Paris-Est Sup
2011
Royal College of Surgeons in Ireland
2008-2009
Beaumont Hospital
2008
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...
Syncytins are envelope genes from endogenous retroviruses, "captured" for a role in placentation. They mediate cell-cell fusion, resulting the formation of syncytium (the syncytiotrophoblast) at fetomaternal interface. These have been found all placental mammals which they searched for. Cell-cell fusion is also pivotal muscle fiber and repair, where myotubes formed mononucleated myoblasts into large multinucleated structures. Here we show, taking advantage mice knocked out syncytins, that...
Aldosterone effects are mediated by the mineralocorticoid receptor (MR), a transcription factor highly expressed in distal nephron. Given that MR expression level constitutes key element controlling hormone responsiveness, there is much interest elucidating molecular mechanisms governing expression. To investigate whether hyper- or hypotonicity could affect abundance, we established targeted oncogenesis novel immortalized cortical collecting duct (CCD) cell line and examined impact of...
Cardiomyopathy is a lethal result of Duchenne muscular dystrophy (DMD), but its characteristics remain elusive. The golden retriever (GRMD) dogs produce DMD pathology and mirror patient's symptoms, including cardiomyopathy. We previously showed that bradykinin slows the development pacing-induced heart failure. Therefore, goals this research were to characterize dystrophin-deficiency cardiomyopathy examine cardiac effects in GRMD dogs. At baseline, adult had reduced fractional shortening (28...
ABSTRACT Mutations in DNM2 cause autosomal dominant centronuclear myopathy (ADCNM), a rare disease characterized by skeletal muscle weakness and structural anomalies of the myofibres, including nuclear centralization mitochondrial mispositioning. Following clinical report Border Collie male with exercise intolerance histopathological hallmarks CNM on biopsy, we identified c.1393C>T (R465W) mutation DNM2, corresponding to most common ADCNM humans. In order establish large animal model...
An autosomal recessive neuromuscular disorder characterized by skeletal muscle weakness, fatigability and variable electromyographic or muscular histopathological features has been described in the two related Sphynx Devon Rex cat breeds (Felis catus). Collection of data from affected cats their relatives pointed out a single disease candidate region on feline chromosome C2, identified following genome-wide SNP-based homozygosity mapping strategy. In that region, we further COLQ...
Abstract Masticatory myositis (MM) and generalised idiopathic polymyositis (gIPM) are the most common immune‐mediated in dogs. In humans, diagnosis classification of have continuously evolved over past few decades with combination histopathological immunohistochemical evaluation alongside identification myositis‐specific autoantibodies (MSAs). dogs, however, MSAs only been described MM breeds such as Newfoundland Boxer. We report a case dog that presented sub‐acute pain when chewing...
Stem cell-based therapies are a promising approach for the treatment of degenerative muscular diseases; however, clinical trials have shown inconclusive and even disappointing results so far. Noninvasive cell monitoring by medicine imaging could improve understanding survival biodistribution cells following injection. In this study, we assessed canine sodium iodide symporter (cNIS) reporter gene as an tool to track single-photon emission computed tomography (SPECT/CT) transduced myoblasts...
Summary The tubular shape of mitochondrial cristae depends upon a specific composition the inner membrane, including cardiolipin that allows strong curvature and promotes optimal organization ATP synthase. Here we identify Hacd1, which encodes an enzyme involved in very long chain fatty acid biosynthesis, as key regulator composition, structure functional properties membranes muscle. In Hacd1 -deficient mice, reduced content was associated with dilation caused defective phosphorylating...