A5080326745- Cancer, Hypoxia, and Metabolism
- ATP Synthase and ATPases Research
- Biochemical effects in animals
- Circadian rhythm and melatonin
- Neuropeptides and Animal Physiology
- Receptor Mechanisms and Signaling
- Neuroscience of respiration and sleep
- Mitochondrial Function and Pathology
- Endoplasmic Reticulum Stress and Disease
- Nitric Oxide and Endothelin Effects
- Diabetes Management and Research
- Influenza Virus Research Studies
- Lysosomal Storage Disorders Research
- Prostate Cancer Treatment and Research
- Glycosylation and Glycoproteins Research
- Neonatal Respiratory Health Research
- Connexins and lens biology
- Birth, Development, and Health
- Regulation of Appetite and Obesity
- Amino Acid Enzymes and Metabolism
- Hormonal and reproductive studies
- Adipokines, Inflammation, and Metabolic Diseases
- Respiratory viral infections research
- Diet and metabolism studies
- Asthma and respiratory diseases
Université Paris Cité
2017-2024
Institut Pasteur
2020-2024
Centre National de la Recherche Scientifique
2020-2024
Institut des Maladies Génétiques Imagine
2017-2020
Délégation Paris 5
2017-2020
Sorbonne Paris Cité
2017-2020
Inserm
2019
University of Florence
1968-2004
University of Bari Aldo Moro
1991-1998
The biogenesis of the multi-subunit vacuolar-type H+-ATPase (V-ATPase) is initiated in endoplasmic reticulum with assembly proton pore V0, which controlled by a group factors. Here, we identify two hemizygous missense mutations extracellular domain accessory V-ATPase subunit ATP6AP2 (also known as [pro]renin receptor) responsible for glycosylation disorder liver disease, immunodeficiency, cutis laxa, and psychomotor impairment. We show that deficiency mouse caused hypoglycosylation serum...
Vacuolar H+-ATP complex (V-ATPase) is a multisubunit protein required for acidification of intracellular compartments. At least five different factors are known to be essential its assembly in the endoplasmic reticulum (ER). Genetic defects four these V-ATPase show overlapping clinical features, including steatotic liver disease and mild hypercholesterolemia. An exception factor vacuolar ATPase integral membrane (VMA21), whose X-linked mutations lead autophagic myopathy.Here, we report...
α–Crystallin B chain (CRYAB or also HspB5) is a cytosolic chaperone belonging to the small heat shock protein family and known help folding of different proteins. Here we show that CRYAB binds mutant form at least two multispan transmembrane proteins (TMPs), exerting on them an anti-aggregation activity. It rescues Frizzled4 responsible for rare autosomal dominant Familial exudative vitreoretinopathy (Fz4-FEVR); ATP7B Cu transporter (ATP7B-H1069Q) associated with common Wilson's Disease. In...
Abstract α-Crystallin B (CRYAB or HspB5) is a chaperone member of the small heat-shock protein family that prevents aggregation many cytosolic client proteins by means its ATP-independent holdase activity. Surprisingly, several reports show CRYAB exerts protective role also extracellularly, and it has been recently demonstrated secreted from human retinal pigment epithelial cells an unconventional secretion pathway involves multi-vesicular bodies. Here we autophagy crucial for this...
Background Autistic spectrum disorders (ASDs) with developmental delay and seizures are a genetically heterogeneous group of diseases caused by at least 700 different genes. Still, number cases remain undiagnosed. Objective The objective this study was to identify characterise pathogenic variants in two individuals from unrelated families, both whom presented similar clinical phenotype that included an ASD, intellectual disability (ID) seizures. Methods Whole-exome sequencing used the...
The behavior of blood glucose, plasma free fatty acids and cortisol has been studied after insulin administration in subjects with diabetes mellitus without known complications normal circadian rhythm. mean response to hypoglycemia the diabetic was below that controls, but not statistically significant. slower rise group probably due lesser degree hypoglycemia.
OBJECTIVE: Most mutations of the arginine vasopressin-neurophysin II (AVP-NPII) gene cause autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI). Such are predicted to alter three-dimensional structure prohormone, which accumulates in cell body, ultimately leading neuronal degeneration and hormonal deficit. In this study we describe case a 26-year-old female reporting long-lasting history polyuria/polydipsia. The father patient was affected by under desmopressin treatment...
The aim of the liresent study was to investigate putative mechanisms implicated in impaired phagocytic response spontaneously hypertensive rats (SHR)1. effect vitro treatment with isoproterenol (ISO), a β-adrenergic drug, on phagocytosis and respiratory burst by splenic macrophages (SpMØ) from normotensive Wistar-Kyoto (WKY) SHR established hypertension, respectively, evaluated. Furthermore, relaxant ISO determined phenilephrine-precontracted thoracic aorta strips compared age-matched WKY...
1. The response to perivascular nervous stimulation (PNS) and the responsiveness receptor agonists, in different stages of neurogenesis, on rat mesenteric vascular bed (MVB), was investigated. Rats age groups (5-7, 9-11, 14-16, 20-22 days) were tested, using 60-day-old rats as controls. 2. In 5-7 days group, PNS resistant TTX treatment (1 x 10(-6) M). inhibition increased with became almost complete rats. 3. 1st week postnatal life (pre-innervation period), noradrenaline (NA)...
The life cycle of influenza A viruses (IAV), and notably intracellular trafficking the viral genome, depends on multiple interactions with cellular cytoskeleton endomembrane system. limitation conventional models used for mechanistic study subcellular imaging IAV infection is that they are cultured in two dimensions (2D) under non-polarizing conditions, therefore do not recapitulate organization polarized respiratory epithelial cells naturally targeted by IAVs. To overcome this limitation,...
Summary To characterize 5‐hydroxytryptamine (5‐HT) receptors in rat perfused mesenteric vascular bed (MVB), the effect of 5‐HT and related compounds was investigated by functional assay. In quiescent preparations, elicited a concentration‐dependent conctractile response. After addition ketanserin, 2 receptor antagonist, EC 50 values were significantly higher than controls. noradrenaline (NA)‐precontracted under continuous infusion 5‐HT, 5‐carboxamidotryptamine (5‐CT) sumatriptan produced...
Summary— The effects of idazoxan (IDZ) and its stereoisomers were compared to that a classical α 2 ‐antagonist, yohimbine (YOH), on para‐aminoclonidine (PAC)‐ norepinephrine (NE)‐mediated inhibition the twitch response evoked in mouse vas deferens by low‐frequency (0.1 Hz) field stimulation. (±)‐IDZ (+)‐IDZ antagonized inhibitory PAC, being twice as potent (±)‐IDZ; contrast, antagonism (‐)‐IDZ failed meet Schild criteria for competitive mechanism. YOH completely reversed induced NE, but not...
Abstract The life cycle of influenza A viruses (IAV), and notably intracellular trafficking the viral genome, depend on multiple interactions with cellular cytoskeleton endomembrane system. limitation conventional models used for mechanistic study subcellular imaging IAV infection is that they are cultured in two dimensions (2D) under non-polarizing conditions, therefore do not recapitulate organization polarized respiratory epithelial cells naturally targeted by IAVs. To overcome this...
The present study was carried out on mesenteric vascular bed from LPS-injected rats in order to investigate possible mechanisms underlying hyporesponsiveness resistance blood vessels the course of septic shock syndrome. involvement L-arginine (L-Arg)/nitric oxide (NO) pathway evaluated by administration L-Arg, which produced a decrease perfusion pressure LPS-treated rats, whereas it ineffective control rats. Of note, dexamethasone (DEX) pretreatment endotoxaemic significantly reduced...