A5017354720- Muscle Physiology and Disorders
- Sperm and Testicular Function
- Reproductive Biology and Fertility
- Virus-based gene therapy research
- Pancreatic function and diabetes
- DNA Repair Mechanisms
- Fibroblast Growth Factor Research
- Adipose Tissue and Metabolism
- Metabolism, Diabetes, and Cancer
- Renal and related cancers
- RNA Research and Splicing
- Genetic Syndromes and Imprinting
- Cardiomyopathy and Myosin Studies
- Pediatric Hepatobiliary Diseases and Treatments
- Clinical Nutrition and Gastroenterology
- Tissue Engineering and Regenerative Medicine
- Epigenetics and DNA Methylation
- NF-κB Signaling Pathways
- Cell death mechanisms and regulation
- Endoplasmic Reticulum Stress and Disease
- Nuclear Structure and Function
- Signaling Pathways in Disease
- Parathyroid Disorders and Treatments
- Genetic Neurodegenerative Diseases
- Folate and B Vitamins Research
Inova Design Solutions (United Kingdom)
2025
Inserm
2004-2024
Centre de Recherche en Myologie
2020-2024
Sorbonne Université
2020-2024
Institut de Myologie
2020-2024
Université Paris Cité
2004-2017
Institut Necker Enfants Malades
2016-2017
Centre National de la Recherche Scientifique
2017
Biologie Intégrée du Globule Rouge
2012
Délégation Paris 5
2010
Background PiT1 (or SLC20a1) encodes a widely expressed plasma membrane protein functioning as high-affinity Na+-phosphate (Pi) cotransporter. As such, is often considered ubiquitous supplier of Pi for cellular needs regardless the lack experimental data. Although importance in mineralizing processes have been demonstrated vitro osteoblasts, chondrocytes and vascular smooth muscle cells, vivo evidence missing. Methodology/Principal Findings To determine function PiT1, we generated an allelic...
High plasma fibroblast growth factor-23 (FGF23) concentration predicts the risk of death and poor outcomes in patients with chronic kidney disease or heart failure. We checked if FGF23 could be modified end stage liver (ESLD) predict mortality. measured 200 ESLD registered on a transplant waiting list between January 2005 October 2008. found that median was above normal values 63% patients. Increased not explained by its classical determinants: hyperphosphataemia, increased calcitriol...
The liver plays a central role in whole-body lipid and glucose homeostasis. Increasing dietary fat intake results increased hepatic deposition, which is associated with risk for development of insulin resistance type 2 diabetes. In this study, we demonstrate the phosphate inorganic transporter 1 (PiT1/SLC20A1) regulating metabolism. Specific knockout Pit1 hepatocytes significantly improved tolerance sensitivity, enhanced signaling, decreased lipogenesis. We identified USP7 as PiT1 binding...
Abstract PiT1/SLC20A1 is an inorganic phosphate transporter with additional functions including the regulation of TNFα-induced apoptosis, erythropoiesis, cell proliferation and insulin signaling. Recent data suggest a relationship between PiT1 NF-κB-dependent inflammation: (i) Pit1 mRNA up-regulated in context NF-κB pathway activation; (ii) target gene transcription decreased PiT1-deficient conditions. This led us to investigate role lipopolysaccharide (LPS)-induced inflammation. MCP-1 IL-6...
ABSTRACT LMNA cardiomyopathy, caused by mutations in the gene, is a severe form of dilated cardiomyopathy characterized arrhythmias, contractile dysfunction, and increased myocardial fibrosis, which impairs left ventricular function predisposes to heart failure. While disease has been well characterized, lack insight into pathogenesis impeded development therapies. We here used patient-derived p.H222P cardiomyocytes (hiPSC-CMs) their isogenic controls Lmna H222P/H222P mouse model dissect...
The DNA double-strand breaks (DSBs) are considered to be the most relevant lesions for deleterious effects of ionizing radiation exposure. discovery that induction DSBs is rapidly followed by phosphorylation H2AX histone at Ser-139, favoring repair protein recruitment or access, opens possibility a wide range research. This phosphorylated histone, named γ-H2AX, has been shown form foci in interphase nuclei as well megabase chromatin domains surrounding lesion on chromosomes. Using detection...
Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disease caused by an absence of the dystrophin protein, which essential for muscle fiber integrity. Among developed therapeutic strategies DMD, exon-skipping approach corrects frameshift and partially restores expression. It could be achieved through use antisense sequences, such as peptide-conjugated phosphorodiamidate morpholino oligomer (PPMO) or small nuclear RNA-U7 carried adeno-associated virus (AAV) vector. AAV-based...
The sarcoplasmic reticulum (SR) plays an important role in calcium homeostasis. SR mishandling is described pathological conditions, such as myopathies. Here, we investigated whether the nuclear receptor subfamily 1 group D member (NR1D1, also called REV-ERBα) regulates skeletal muscle Our data demonstrate that NR1D1 deficiency mice impaired sarco/endoplasmic ATPase-dependent (SERCA-dependent) uptake. acts on homeostasis by repressing SERCA inhibitor myoregulin through direct binding to its...
Neonatal gonocytes are the precursors of both spermatogonial stem cells and spermatogonia; thus, any persistant DNA damage in these may lead to heritable mutations. We investigated response male mouse neonatal germ ionizing radiation. Both spermatogonia died large numbers by apoptosis. However, we found that were significantly more sensitive than somatic radiation-induced double-strand breaks (DSBs), as assayed number gamma-H2AFX foci. In contrast, irradiated G2 phase seemed repair DSBs...
The first round of mouse spermatogenesis begins from 3 to 4 days after birth through differentiation gonocytes into spermatogonial-stem cells and type A spermatogonia. Consequently, this step may determine generation the original population stem fertility potential adult mouse. We aimed effect perinatal exposure ionizing radiation on testis at end wave sexual maturity. Our results show that, sensitivity substantially decreases late foetal life week birth. In addition, partial or full...
Abstract Sarcopenia involves a progressive loss of skeletal muscle force, quality and mass during ageing, which results in increased inability death; however, no cure has been established thus far. Growth differentiation factor 5 (GDF5) described to modulate maintenance various contexts. For our proof concept, we overexpressed GDF5 by AAV vector injection tibialis anterior adult aged (20 months) mice performed molecular functional analysis muscle. We analysed human vastus lateralis biopsies...
Abstract Duchenne muscular dystrophy is a severe neuromuscular disease causing progressive muscle wasting due to mutations in the DMD gene that lead absence of dystrophin protein. Adeno-associated virus (AAV)-based therapies aiming restore muscles, by either exon skipping or microdystrophin expression, are very promising. However, induces cellular perturbations hinder AAV therapy efficiency. We focused here on impact necrosis-regeneration process leading nuclear centralization myofiber,...
LIENS D'INTÉRÊT Les auteurs déclarent n'avoir aucun lien d'intérêt concernant les données publiées dans cet article.
Abstract The sarcoplasmic reticulum (SR) plays an important role in calcium homeostasis. SR mishandling is described pathological conditions such as myopathies. Here, we investigated whether the nuclear receptor Rev-erb-α regulates skeletal muscle Our data demonstrate that Rev-erbα invalidation mice impairs SERCA-dependent uptake. acts on homeostasis by repressing SERCA inhibitor Myoregulin, through direct binding to its promoter. Restoration of Myoregulin counteracts effects REV-ERB-α...