A5088923173- Retinal Development and Disorders
- Photoreceptor and optogenetics research
- Retinal Diseases and Treatments
- Mitochondrial Function and Pathology
- Receptor Mechanisms and Signaling
- RNA regulation and disease
- Muscle Physiology and Disorders
- Glaucoma and retinal disorders
- Virus-based gene therapy research
- Circadian rhythm and melatonin
- Adipose Tissue and Metabolism
- Cerebrovascular and genetic disorders
- Fibroblast Growth Factor Research
- Viral Infectious Diseases and Gene Expression in Insects
- Neuroscience and Neural Engineering
- Protist diversity and phylogeny
- Ocular Oncology and Treatments
- Microbial Metabolism and Applications
- Molecular Biology Techniques and Applications
- Genetic and Kidney Cyst Diseases
- Cytomegalovirus and herpesvirus research
- Genetics and Neurodevelopmental Disorders
- Complement system in diseases
- Mechanisms of cancer metastasis
- Calcium signaling and nucleotide metabolism
HiFiBiO Therapeutics (France)
2025
Centre National de la Recherche Scientifique
2011-2021
Institut de la Vision
2011-2021
Sorbonne Université
2011-2021
Inserm
2011-2021
Stevenage Bioscience Catalyst
2021
Centre de Gestion Scientifique
2012-2014
Abstract Dry age-related macular degeneration (AMD) is characterised by loss of central vision and currently has no approved medical treatment. Dysregulation the complement system thought to play an important role in disease pathology supplementation Complement Factor I (CFI), a key regulator system, potential provide treatment option for AMD. In this study, we demonstrate generation AAV constructs carrying human CFI sequence expression cell lines retina C57BL/6 J mice. Four codon optimised...
Mutations in LRIT3, coding for a Leucine-Rich Repeat, immunoglobulin-like and transmembrane domains 3 protein lead to autosomal recessive complete congenital stationary night blindness (cCSNB). The role of the corresponding ON-bipolar cell signaling cascade remains be elucidated. Here we genetically functionally characterize commercially available Lrit3 knock-out mouse, model study function pathogenic mechanism LRIT3. We confirm that insertion Bgeo/Puro cassette allele introduces premature...
Abstract Mutations in LRIT 3 lead to complete congenital stationary night blindness ( cCSNB ). The exact role of ON ‐bipolar cell signaling cascade remains be elucidated. Recently, we have characterized a novel mouse model lacking Lrit3 [ no b‐wave 6, nob6 / )], which displays similar abnormalities patients with mutations. Here compare the localization components wild‐type and retinal sections by immunofluorescence confocal microscopy. An anti‐ antibody was generated. Immunofluorescent...
Aims/Purpose: Complement inhibitors slightly reduce geographic atrophy (GA) lesion growth, yet vision loss prevention remains a challenge. Iron overload worsens retinal diseases like age‐related macular degeneration (AMD), and Transferrin (Tf) supplementation mitigates iron‐induced toxicity, offering promising therapy for GA (Picard 2015). To avoid repeated intravitreal Tf injections, we developed non‐viral vectorized delivery platform via electrotransfection of the ciliary muscle, acting as...
Rod-cone dystrophy, also known as retinitis pigmentosa (RP), is the most common inherited degenerative photoreceptor disease, for which no therapy currently available. The P23H rat one of commonly used autosomal dominant RP models. It has been created by incorporation a mutated mouse rhodopsin (Rho) transgene in wild-type (WT) Sprague Dawley rat. Detailed genetic characterization this transgenic animal however never fully reported. Here we filled knowledge gap on Line 1 (P23H-1) and provide...
Inherited retinal diseases are a group of clinically and genetically heterogeneous disorders for which significant number cases remain unresolved. Increasing knowledge on underlying pathogenic mechanisms with precise phenotype–genotype correlation is, however, critical establishing novel therapeutic interventions these yet incurable neurodegenerative conditions. We report phenotypic genetic characterization large family presenting an unusual autosomal dominant dystrophy. Phenotypic revealed...
Purpose.: Mutations in GPR179, which encodes the G protein-coupled receptor 179, lead to autosomal recessive complete (c) congenital stationary night blindness (CSNB), is characterized by an ON-bipolar retinal cell dysfunction. This study further defined exact site of Gpr179 expression and its protein localization human retina elucidated pathogenic mechanism reported missense splice mutations. Methods.: RNA situ hybridization was performed with mouse sections. A commercially available...
Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is characterized by rod followed cone photoreceptor degeneration, leading to gradual visual loss. Mutations in over 65 genes have been associated with non-syndromic RCD explaining 60% 70% of cases, novel gene defects possibly accounting for the unsolved cases. Homozygosity mapping and whole-exome sequencing applied a case autosomal recessive from consanguineous union identified homozygous variant WDR34. WDR34 previously severe...
Mutations in GPR179 lead to autosomal recessive complete congenital stationary night blindness (cCSNB). This condition represents a signal transmission defect from the photoreceptors ON-bipolar cells. To confirm phenotype, better understand pathogenic mechanism vivo, and provide model for therapeutic approaches, Gpr179 knock-out mouse was genetically functionally characterized. We confirmed that insertion of neo/lac Z cassette intron 1 disrupts same gene. Spectral domain optical coherence...
The purpose of this work was to identify the gene defect underlying a relatively mild rod-cone dystrophy (RCD), lacking disease-causing variants in known genes implicated inherited retinal disorders (IRD), and provide transcriptomic immunolocalization data highlight best candidate. DNA female patient originating from consanguineous family revealed no large duplication or deletion, but several homozygous regions. In one these, frameshift variant, c.244_246delins17 p.(Trp82Valfs*4); predicted...