A5103130821- Mitochondrial Function and Pathology
- Muscle Physiology and Disorders
- ATP Synthase and ATPases Research
- Neurogenetic and Muscular Disorders Research
- Adipose Tissue and Metabolism
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Nuclear Structure and Function
- Metabolism and Genetic Disorders
- Exercise and Physiological Responses
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- Protein Tyrosine Phosphatases
- Genetic Neurodegenerative Diseases
- Sperm and Testicular Function
- Animal Genetics and Reproduction
Institut Mondor de Recherche Biomédicale
2015-2023
Université Paris-Est Créteil
2012-2023
Inserm
2015-2023
École Nationale Vétérinaire d'Alfort
2001-2015
Laboratoire de Génétique Cellulaire
2001-2012
Paris-Est Sup
2012
Decreasing mitochondrial energy-production efficiency in skeletal muscle can confer protection against diet-induced obesity.
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...
Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ∼70 mutations in three major genes the myotubularin, dynamin and amphiphysin families. Analysis animal models with altered expression these revealed common defects all forms CNM, paving way for unified pathogenic therapeutic mechanisms. Despite efforts, some cases remain genetically unresolved. We previously identified autosomal recessive...
Mitochondria fuel most animal cells with ATP, ensuring proper energetic metabolism of organs. Early and extensive mitochondrial dysfunction often leads to severe disorders through multiorgan failure. Hacd2 gene encodes an enzyme involved in very long chain fatty acid (C ≥ 18) synthesis, yet its roles vivo remain poorly understood. Since mitochondria function relies on specific properties their membranes conferred by a particular phospholipid composition, we investigated if participates...