A5102839377- Retinal Development and Disorders
- CRISPR and Genetic Engineering
- Biomedical Research and Pathophysiology
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Retinal Diseases and Treatments
- Virus-based gene therapy research
- Head and Neck Anomalies
- Pluripotent Stem Cells Research
- RNA regulation and disease
- Photoreceptor and optogenetics research
- Advanced biosensing and bioanalysis techniques
- Hearing, Cochlea, Tinnitus, Genetics
- Retinal and Optic Conditions
- Mosquito-borne diseases and control
- Retinal and Macular Surgery
- Ocular Disorders and Treatments
- Renal and related cancers
- Retinal Imaging and Analysis
- RNA and protein synthesis mechanisms
- Connexins and lens biology
- Glaucoma and retinal disorders
- Ocular Oncology and Treatments
- Lysosomal Storage Disorders Research
- RNA modifications and cancer
Institute for Neurosciences of Montpellier
2016-2025
Inserm
2016-2025
Université de Montpellier
2014-2025
Hôpital Saint Eloi
2012-2024
Centre Hospitalier Universitaire de Montpellier
2024
Hôpital Gui de Chauliac
2018
Washington Center
2018
University of Washington
2018
Centre National de la Recherche Scientifique
1994-2014
Institut de Génétique Moléculaire de Montpellier
2003-2014
The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together U5 and ∼30 proteins, is part of U4/U6.U5 tri-snRNP complex, located at core major spliceosome. Recently, recurrent de novo variants in RNA, transcribed from RNU4-2 gene, least two other RNU genes were discovered to cause neurodevelopmental disorder. We detected inherited heterozygous (n.18_19insA n.56T>C) four out five RNU6 paralogues (n.55_56insG n.56_57insG) 135 individuals 62 families non-syndromic retinitis...
Cystinosis is an autosomal recessive disorder characterized by accumulation of intralysosomal cystine. The causative gene, CTNS, encodes cystinosin, a seven-transmembrane-domain protein, which we recently showed to be lysosomal cystine transporter. most severe and frequent form cystinosis, the infantile form, appears around 6 12 months, with proximal tubulopathy (de Toni-Debré-Fanconi syndrome) ocular damage. End-stage renal failure reached 10 years age. Accumulation in all tissues...
Cystinosis is a lysosomal transport disorder characterized by an accumulation of intra-lysosomal cystine. Biochemical studies showed that the cystine transporter was distinct from plasma membrane transporters and it exclusively transported The gene underlying cystinosis,CTNS, encodes predicted seven-transmembrane domain protein called cystinosin, which highly glycosylated at N-terminal end carries GY-XX-Φ (where Φ hydrophobic residue) lysosomal-targeting motif in its carboxyl tail. We...
Cystinosis is an inherited disorder characterized by defective lysosomal efflux of cystine. Three clinical forms (infantile, juvenile and ocular cystinosis) have been described according to the age onset severity symptoms. The causative gene, CTNS, encodes a seven transmembrane domain protein, cystinosin, which we recently identified as H+-driven cystine transporter using in vitro transport assay. In this study, explored relationship between activity intracellular localization cystinosin...
Although it has been known for 50 years that adenoviruses (Ads) interact with erythrocytes ex vivo, the molecular and structural basis this interaction, which serendipitously exploited diagnostic tests, is unknown. In study, we characterized interaction between unrelated Ad serotypes, human 5 (HAd5) 37 (HAd37), canine 2 (CAV-2). While these serotypes agglutinate erythrocytes, they use different receptors, have tropisms and/or infect species. Using molecular, biochemical, transgenic...
Background. Cystinosis is caused by mutations in CTNS that encodes cystinosin, the lysosomal cystine transporter. The most severe and frequent form characterized a proximal tubulopathy appears around 6 to 12 months of age. In absence treatment, end-stage renal disease reached 10 years. Ctns−/− mice mixed 129Sv × C57BL/6 genetic background show elevated levels; however, or not observed.
Choroideremia (CHM) is an X-linked chorioretinal dystrophy that caused by mutations within a single gene, CHM Currently no effective treatment exists for these patients. Since over 30% of patients harbour nonsense in CHM, suppression therapy using translational readthrough inducing drugs may provide functional rescue REP1, thus attenuating progressive sight loss. Here, we employed two model systems to systematically test the efficacy and safety ataluren (PTC124) its novel analog PTC-414: (1)...
Inherited retinal dystrophies (IRDs) comprise a large group of genetically and clinically heterogeneous diseases that lead to progressive vision loss, for which paucity disease-mimicking animal models renders preclinical studies difficult. We sought develop pertinent human cellular IRD models, beginning with choroideremia, caused by mutations in the CHM gene encoding Rab escort protein 1 (REP1). reprogrammed REP1-deficient fibroblasts from (-/y) patient into induced pluripotent stem cells...
Inherited retinal dystrophies (IRDs) are characterized by progressive photoreceptor degeneration and vision loss. Usher syndrome (USH) is a syndromic IRD retinitis pigmentosa (RP) hearing USH clinically genetically heterogeneous, the most prevalent causative gene USH2A. USH2A mutations also account for large number of isolated autosomal recessive RP (arRP) cases. This high prevalence due to two recurrent mutations, c.2276G>T c.2299delG. Due size cDNA, augmentation therapy inaccessible....
Journal Article A proposed new contiguous gene syndrome on 8q consists of Branchio-Oto-Renal (BOR) syndrome, Duane a dominant form hydrocephalus and trapeze aplasia; implications for the mapping BOR Get access Christophe Vincent, Vincent Unité de Génétique Moléculaire Humaine (CNRS URA 1445), Institut Pasteur25 rue du Dr Roux, 75724 Paris Cédex 15 Search other works by this author on: Oxford Academic PubMed Google Scholar Vasiliki Kalatzis, Kalatzis Sylvie Compain, Compain Jacqueline...
Branchio-Oto-Renal (BOR) syndrome is an autosomal dominant, early developmental defect characterised by varying combinations of branchial (fistulas, sinuses, and cysts), outer, middle inner ear, renal anomalies. The gene underlying this syndrome, EYA1, homologous to the Drosophila eyes absent which encodes a transcriptional co-activator required for eye specification. We report here temporal spatial pattern expression murine homologue, Eya1, throughout ear kidney development in relation...
Choroideremia (CHM) is a rare X-linked disease leading to progressive retinal degeneration resulting in blindness. The disorder caused by mutations the CHM gene encoding REP-1 protein, an essential component of Rab geranylgeranyltransferase (GGTase) complex. In present study, we evaluated multi-technique analysis algorithm describe mutational spectrum identified large cohort cases and further correlate variants with phenotypic characteristics biochemical defects choroideremia patients....
Zika virus (ZIKV) has recently re-emerged as a pathogenic agent with epidemic capacities was well illustrated in South America. Because of the extent this health crisis, number more serious symptoms have become associated ZIKV infection than what initially described. In particular, neuronal and ocular disorders been characterized, both infants adults. Notably, macula retina can be strongly affected by ZIKV, possibly direct effect virus. This is supported detection replicative infectious...
Usutu virus (USUV), an African mosquito-borne flavivirus closely related to West Nile virus, was first isolated in South Africa 1959. USUV emerged Europe two decades ago, causing notably massive mortality Eurasian blackbirds. is attracting increasing attention due its potential for emergence and rapid spread recent years. Although mainly asymptomatic or responsible mild clinical signs, recently described as being associated with neurological disorders humans such encephalitis...
Retinitis pigmentosa (RP) is an inherited retinal dystrophy that causes progressive vision loss. The G56R mutation in NR2E3 the second most common causing autosomal dominant (ad) RP, a transcription factor essential for photoreceptor development and maintenance. variant exclusively responsible all cases of NR2E3-associated adRP. Currently, there no treatment NR2E3-related or, other, adRP, but genome editing holds promise. A pertinent approach would be to specifically knockout mutant allele,...
Human-induced pluripotent stem cell-derived retinal organoids are a valuable tool for disease modelling and therapeutic development. Many efforts have been made over the last decade to optimise protocols generation of that correctly mimic human retina. Most use common media supplements; however, protocol-dependent variability impacts data interpretation. To date, lack systematic comparison given protocol with or without supplements makes it difficult determine how they influence...
There is an emblematic clinical and genetic heterogeneity associated with inherited retinal diseases (IRDs). The most common form retinitis pigmentosa (RP), a rod-cone dystrophy caused by pathogenic variants in over 80 different genes. Further complexifying diagnosis, individual RP genes can also alter the phenotype. USH2A prevalent gene for autosomal-recessive one of challenging because its large size and, hence, number variants. Moreover, give rise to non-syndromic syndromic RP, known as...
Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and characterized by photoreceptor degeneration progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families variants in TBC1D32, which to date has never been associated an IRD. To validate TBC1D32 as a putative causative gene, we combined Xenopus vivo approaches human induced pluripotent stem cell-derived (iPSC-derived) models. Our data showed that was expressed during development it...