Search results for "hole"

Cholestérol et pathologies oculaires

2014

LXR, prostate cancer and cholesterol: the Good, the Bad and the Ugly.

2012

International audience; Cholesterol is a fundamental molecule for life. Located in the cell membrane, this sterol participates to the cell signaling of growth factors. Inside the cell it can be converted in hormones such as androgens or modulate the immune response. Such important functions could not be solely dependent of external supply by diet hence de novo synthesis could occur from acetate in almost all mammalian cells. If a deficiency in cholesterol sourcing leads to development troubles, overstocking has been associated to various diseases such as atherosclerosis and cancers. Cholesterol homeostasis should thus be tightly regulated at the uptake, de novo synthesis, storage and export…

Identification of molecular and physiopathologic basis in oral-facial-digital syndromes

2016

Oral-facial-digital syndromes (OFDS) are characterized by the association of oral, facial and digital anomalies. The different modes of inheritance and additional features lead to clinically delineate 13 subtypes. For a long time, only the OFD1 gene, responsible for OFDI subtype and coding for a centrosomal protein, has been known, suggesting the involvement of the primary cilium in OFDS. Mutations have recently been reported in the TMEM216, DDX59, SCLT1, TBC1D32 and TCTN3 genes in anecdotic cases. To identify new genes involved in OFDS, we performed whole-exome sequencing in 24 patients. In 14/24 cases, we identified 5 novel genes (C2CD3, TMEM107, INTU, KIAA0753, IFT57), enlarged the clini…

Cholesterol metabolism via cyp46a1 in glaucoma

2012

Cholesterol metabolism via cyp46a1 in glaucoma. International society for eye research (ISER) annual meeting

Characterization of cholesterol metabolism in an experimental model of glaucoma in rats

2019

International audience; Glaucoma is a neurodegenerative pathology characterized by retinal ganglion cell death. Cholesterol homeostasis disruption has been implicated in several neurodegenerative diseases such as Alzheimer and Huntington. However, its specific role in the retina and association with glaucoma remain unclear. The aim of this study was to characterize the modifications of cholesterol metabolism occurring during an experimental model of glaucoma in rats. Eight-weeks old male rats were subjected to laser photocoagulation of episcleral veins, limbus and trabecular meshwork to elevate intraocular pressure. At a short (3 days) and a long (2 months) time period post-laser, the retin…

Cholesterol homeostasis and retinal stress in anterior ischemic optic neuropathy

2016

International audience

Implication of 24-S-hydroxycholesterol in Muller glial cell's membrane dynamics in the rat.

2016

Implication of 24-S-hydroxycholesterol in Muller glial cell's membrane dynamics in the rat.. Association-for-Research-in-Vision-and-Ophthalmology (ARVO)

Effects of adjuvants of the cholera toxin family on CD4 + T cell responses in a murine model of intrarectal immunization with rotavirus-like particles

2011

Mucosal immunization is an important goal of vaccine development to protect against pathogens that use mucosa as portals of entry. However, the use of non-replicating antigens requires the addition of adjuvants.Cholera-like enterotoxins, cholera toxin (CT) from Vibrio cholerae and the heat-labile enterotoxin (LT) from toxinogenic strains of E. coli, as well as the mutant LR-192G and their B subunits (CTB and LTB) have been shown to increase immune responses against unrelated co-administered antigens by mucosal routes. However, their mechanism of action is very complex and not completely understood and differences exist between holotoxins and B subunits and within molecules, differences exis…

Développement de méthodes de référence pour les biomarqueurs du bilan lipidique : application au contrôle qualité en biologie clinique

2013

Reliable measurements in medical biology are essential for early screening and appropriate follow-up of patients. Ensuring metrological traceability of clinical measurements to higher order reference methods or certified reference materials enables to obtain comparable results over time and between different laboratories that could use different methods to quantify the same biomarker.In this study, reference methods were developed and validated for lipid profile biomarkers (total cholesterol, triglycerides, HDL-C, and LDL-C). Their value added in proficiency testing schemes was demonstrated against consensus mean. They were also used to characterize a certified reference material (CRM) that…

Cholestérol-24S-hydroxylase (CYP46A1) et homéostasie du cholestérol dans la rétine en conditions physiologiques et pathologiques

2012

Cholesterol is the major sterol found in the retina. In its free form, cholesterol is present in all cell layers of the retina, whereas cholesteryl esters mainly accumulate at the basement of the retinal pigment epithelium. The intrinsic capacity of the retina to synthetize cholesterol appears limited. Some extra-retinal pathways actively participate to cholesterol uptake to the retina. Müller glial cells may contribute to cholesterol supply to retinal neurons, especially for synaptic formation. Cholesterol accumulation or conversely deficiency have deleterious consequences on neuron survival. Maintaining the equilibrium between cholesterol supply and neosynthesis in the one hand and choles…