Béatrice Bocquet
A5021952183- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Photoreceptor and optogenetics research
- RNA regulation and disease
- Retinoids in leukemia and cellular processes
- Advanced biosensing and bioanalysis techniques
- Mitochondrial Function and Pathology
- Glaucoma and retinal disorders
- Cellular transport and secretion
- Ocular Disorders and Treatments
- Ocular Diseases and Behçet’s Syndrome
- Genomic variations and chromosomal abnormalities
- Ubiquitin and proteasome pathways
- Connexins and lens biology
- Cytomegalovirus and herpesvirus research
- Vasculitis and related conditions
- CRISPR and Genetic Engineering
- Retinopathy of Prematurity Studies
- Retinal and Optic Conditions
- Genomics and Rare Diseases
- Pancreatic and Hepatic Oncology Research
- Ocular Oncology and Treatments
- melanin and skin pigmentation
- Leprosy Research and Treatment
- Cell Adhesion Molecules Research
Université de Montpellier
2016-2025
Institute for Neurosciences of Montpellier
2016-2025
Inserm
2015-2025
Centre Hospitalier Universitaire de Montpellier
2010-2025
Hôpital Saint Eloi
2012-2024
Hôpital Gui de Chauliac
2009-2020
Laboratoire National de Référence
2010-2016
Centre de Référence Déficits Immunitaires Héréditaires
2010-2012
Institut Pasteur de Lille
2004
Institut de Biologie de Lille
2004
Mutations in genes encoding components of the mitochondrial DNA (mtDNA) replication machinery cause mtDNA depletion syndromes (MDSs), which associate ocular features with severe neurological syndromes. Here, we identified heterozygous missense mutations single-strand binding protein 1 (SSBP1) 5 unrelated families, leading to R38Q and R107Q amino acid changes single-stranded DNA-binding protein, a crucial involved replication. All affected individuals presented optic atrophy, associated...
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by cone retina. A genetic diagnosis for IRDs is challenging since >280 genes associated with these conditions. While whole exome sequencing (WES) commonly used diagnostic facilities, costs required infrastructure prevent its global applicability. Previous studies have shown cost-effectiveness sequence analysis using...
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...
Dominant Optic Atrophy is a blinding disease related to optic nerve degeneration, which caused in more than 50% of cases, by heterozygous mutation the OPA1 gene. Since its molecular identification 2000, one striking observation DOA patients high variability visual defect, ranging from almost unaffected individuals legally blind patients, even among relatives with same mutation. This further connected progression also highly variable, some evolving quickly blindness, whereas others display...
Purpose: To determine the profile of inflammation-related proteins and complement system factors in plasma CRB1-associated inherited retinal dystrophies (CRB1-IRDs). Methods: We used Olink Explore 384 Inflammation II panel for targeted proteomics 30 cases 29 controls (cohort I) to identify immune pathways involved CRB1-IRDs. Genotyping was performed cohort I a second 123 patients from 14 countries 1292 II). Results: A significant shift cascade observed proteomes CRB1-IRD (enrichment cascade,...
Neutral sphingomyelinase (nSMase), the initial enzyme of sphingolipid signaling pathway, is thought to play a key role in cellular responses tumor necrosis factor alpha (TNF-alpha), such as inflammation, proliferation, and apoptosis. The mechanism TNF-alpha-induced nSMase activation only partly understood. Using biochemical, molecular, pharmacological approaches, we found that triggered by TNF-alpha required for proliferation turn requires proteolytic cascade involving furin, membrane type 1...
Purpose: Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical molecular features. The relative prevalence of these conditions was determined in Southern France.Methods: Patients recruited from a specialized outpatient clinic over 21-year period underwent extensive investigations 107 genes were screened polymerase chain reaction/sequencing.Results: There 1957 IRD cases (1481 families) distributed 70% pigmentary retinopathy...
Retinitis punctata albescens (RPA) is an autosomal recessive form of retinitis pigmentosa characterized by white dotlike deposits in the fundus, most cases caused mutations RLBP1.To study disease progression and visual function RPA.We performed clinical molecular investigations patients with RPA at various ages, from November 5, 2003, through June 20, 2012, no planned patient follow-up.The National Reference Center for Genetic Sensory Diseases (Montpellier).Eleven (mean age, 24 [range, 3-39]...
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...
Purpose Gene identification in retinitis pigmentosa is a prerequisite to future therapies. Accordingly, autosomal recessive families were genotyped search for causative mutations. Methods Members of consanguineous Moroccan family had standard ophthalmologic examination, optical coherence tomography–3 scan, autofluorescence testing, and electroretinogram. Their DNA was with the 250K SNP microchip (Affymetrix) homozygosity mapping done. MERTK exons polymerase chain reaction amplified...
Our comprehensive cohort of 1100 unrelated achromatopsia (ACHM) patients comprises a considerable number cases (~5%) harboring only single pathogenic variant in the major ACHM gene CNGB3. We sequenced entire CNGB3 locus 33 these to find second which eventually explained patients' phenotype. Forty-seven intronic variants were identified 28 subjects after filtering step based on frequency and exclusion found cis with alleles. In step, silico prediction tools used filter out those little odds...
Autosomal dominant congenital stationary night blindness (adCSNB) is caused by mutations in three genes of the rod phototransduction cascade, rhodopsin (RHO), transducin α-subunit (GNAT1), and cGMP phosphodiesterase type 6 β-subunit (PDE6B). In most cases, constitutive activation cascade a prerequisite to cause adCSNB. The unique adCSNB-associated PDE6B mutation found Rambusch pedigree, substitution p.His258Asn, leads photoreceptors desensitization. Here, we report three-generation French...