A5063451409- Autophagy in Disease and Therapy
- Zebrafish Biomedical Research Applications
- Mitochondrial Function and Pathology
- Cellular transport and secretion
- Cardiovascular Function and Risk Factors
- Pediatric Hepatobiliary Diseases and Treatments
- Neuroendocrine Tumor Research Advances
- Cannabis and Cannabinoid Research
- Parathyroid Disorders and Treatments
- Lysosomal Storage Disorders Research
- Acute Myocardial Infarction Research
- Metabolism, Diabetes, and Cancer
- Light effects on plants
- Endoplasmic Reticulum Stress and Disease
- Diet, Metabolism, and Disease
- Cholesterol and Lipid Metabolism
- Porphyrin Metabolism and Disorders
- Metabolism and Genetic Disorders
- Iron Metabolism and Disorders
- Glycogen Storage Diseases and Myoclonus
- Calpain Protease Function and Regulation
- Cardiac Imaging and Diagnostics
- Genetic Syndromes and Imprinting
- Pancreatic and Hepatic Oncology Research
- Oral and gingival health research
Hôpital Necker-Enfants Malades
2021-2025
Université Paris Cité
2021-2025
Sorbonne Paris Cité
2021-2024
Assistance Publique – Hôpitaux de Paris
2017-2024
Inserm
2021-2024
Institut Necker Enfants Malades
2021-2023
Bicêtre Hospital
2022
Centre National de la Recherche Scientifique
2022
Hôpital Cochin
2021
Hôpitaux Universitaires Paris-Ouest
2017
Abstract Metabolic demands fluctuate rhythmically and rely on coordination between the circadian clock nutrient-sensing signalling pathways, yet mechanisms of their interaction remain not fully understood. Surprisingly, we find that class 3 phosphatidylinositol-3-kinase (PI3K), known best for its essential role as a lipid kinase in endocytosis lysosomal degradation by autophagy, has an overlooked nuclear function gene transcription coactivator heterodimeric factor driver Bmal1–Clock....
Troponin is a specific cardiac infarction isoform (TnIc, TnTc) and its determination used for the diagnosis of myocardial even with normal Electrocardiography. The increase troponins occurs in variety clinical situations without an acute coronary syndrome (ACS), cardiologists emergency physicians are often confronted positive that difficult to interpret. Few data exist about occurrence, characteristics predictive value case absence ACS. objective this study present main extracardiac causes...
Autophagy is a fundamental housekeeping process by which cells degrade their components to maintain homeostasis. Defects in autophagy have been associated with aging, neurodegeneration and metabolic diseases. Non-alcoholic fatty liver diseases (NAFLDs) are characterized hepatic fat accumulation or without inflammation. No treatment for NAFLDs currently available, but induction has proposed as promising therapeutic strategy. Here, we aimed design autophagy-inducing particles, using the...
Patients with pathogenic variants in the TANGO2 gene suffer from severe and recurrent rhabdomyolysis episodes precipitated by fasting. Autophagy functioning was analyzed vitro, primary skeletal myoblasts patients, basal fasting conditions, mutations were associated reduced LC3-II levels upon starvation. In zebrafish larvae, tango2 inhibition induced locomotor defects which exacerbated exposure to atorvastatin, a compound known cause rhabdomyolysis. Importantly, features of knockdown...
Abstract Patients with fatty acid oxidation disorders (FAODs) experience muscle symptoms due to impaired ATP metabolism and the toxicity of accumulated mitochondrial FAO substrates or intermediates, especially during catabolic states. A major issue is absence specific sensible biomarkers evaluate metabolic equilibrium. The relationship between cardiac output (Q) oxygen consumption (VO 2 ) incremental exercise (dQ/dVO provides an indirect surrogate function. high dQ/dVO slope indicates...
Loss-of-function variants in the calcium-sensing receptor (CASR) gene are known to be involved a clinical spectrum ranging from asymptomatic familial hypocalciuric hypercalcemia (FHH) neonatal severe hyperparathyroidism (NSHPT). Homozygous or compound heterozygous usually responsible for forms, whereas cause benign forms. One recurrent pathogenic variant, p.Arg185Gln, has been reported both state. This variant can de novo occurrence inherited father with FHH.NSHPT leads global hypotonia,...
Abstract Patients with pathogenic variants in the TANGO2 gene suffer from severe and recurrent rhabdomyolysis (RM) episodes precipitated by fasting. Since starvation promotes autophagy induction, we wondered whether TANGO2-related muscle symptoms result insufficiency to meet cellular demands stress conditions. Autophagy functioning was analyzed vitro , primary skeletal cells patients basal fasting In addition, developed a tango2 morphant zebrafish model assess effect of knockdown (KD) on...
Abstract Background Neuronal ceroid lipofuscinoses (NCLs) form a clinically and genetically heterogeneous group of inherited neurodegenerative disorders that share common neuropathological features. Although they are the first cause in children, their congenital forms rarely documented. They classically due to mutations CTSD gene (the CLN10 disease). Affected newborns usually present severe microcephaly, seizures respiratory failure leading death within postnatal days or weeks. Cases We...
Abstract Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1. The uncertainty of pathogenicity MEN1 variants complexifies selection patients likely to benefit from specific care. Objective MEN1-mutated should be offered tailored screening and genetic counseling. We present a patient with hyperparathyroidism for whom analysis identified variant uncertain significance (NM_130799.2): c.654G > T...
We present a case of 48-year-old woman with fortuitous discovery macrocytic anemia and thrombocytopenia. Serum folate vitamin B12 levels were normal. However, due to the presence indirect signs cobalamin deficiency, such as elevated homocysteine methylmalonic acid, dyserythropoiesis on bone marrow aspirate, pernicious was suspected. Vitamin dosage repeated finding fluctuating but always normal results. Anti-intrinsic factor antibodies at very high level, explaining fluctuations interference...