A5036346252- Retinal Development and Disorders
- Retinal Diseases and Treatments
- MicroRNA in disease regulation
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Genetic Neurodegenerative Diseases
- interferon and immune responses
- Genomics and Rare Diseases
- RNA modifications and cancer
- RNA Research and Splicing
- Genomic variations and chromosomal abnormalities
- CRISPR and Genetic Engineering
- Ocular Disorders and Treatments
- Connexins and lens biology
- Cancer-related molecular mechanisms research
- Cellular transport and secretion
- Genomics and Chromatin Dynamics
- Genomics and Phylogenetic Studies
- RNA and protein synthesis mechanisms
- Advanced biosensing and bioanalysis techniques
- Retinoids in leukemia and cellular processes
- Developmental Biology and Gene Regulation
- Photoreceptor and optogenetics research
- Genetics and Neurodevelopmental Disorders
- Circular RNAs in diseases
Telethon Institute Of Genetics And Medicine
2016-2025
University of Campania "Luigi Vanvitelli"
2016-2025
Clinical Research Consortium
2020
Institut Necker Enfants Malades
2019
Université Paris Cité
2019
University of Naples Federico II
1989-2018
Instituto di Biofisica
2015
Institute of Genetics and Biophysics
2012
University of Trento
2012
Charité - Universitätsmedizin Berlin
2012
Master Controller Cellular organelles allow the localized regulation of specialized processes. Under certain conditions, such as increased growth, may be required to alter their function. Coordinated gene networks for mitochondrial and endoplasmic reticulum function has been observed. Now, Sardiello et al. (p. 473 ; published online 25 June) have discovered a network regulating lysosome, major organelle involved in degradation internalized macromolecules. Many lysosomal genes were regulated...
Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. One form the disease, LCA2, caused by mutations in retinal pigment epithelium-specific 65-kDa protein gene (RPE65). We investigated safety subretinal delivery recombinant adeno-associated virus (AAV) carrying RPE65 complementary DNA (cDNA) (ClinicalTrials.gov number, NCT00516477 [ClinicalTrials.gov]). Three patients LCA2 had an acceptable local and systemic adverse-event profile after...
The manuscript describes the "digital transcriptome atlas" of developing mouse embryo, a powerful resource to determine co-expression genes, identify cell populations and lineages functional associations between genes relevant development disease.
The safety and efficacy of gene therapy for inherited retinal diseases is being tested in humans affected with Leber's congenital amaurosis (LCA), an autosomal recessive blinding disease. Three independent studies have provided evidence that the subretinal administration adeno-associated viral (AAV) vectors encoding RPE65 patients LCA2 due to mutations gene, safe and, some cases, results efficacy. We evaluated long-term (global effects on retinal/visual function) resulting from...
The 5′ and 3′ untranslated regions of eukaryotic mRNAs (UTRs) play crucial roles in the post-transcriptional regulation gene expression through modulation nucleo-cytoplasmic mRNA transport, translation efficiency, subcellular localization message stability. UTRdb is a curated database sequences mRNAs, derived from several sources primary data. Experimentally validated functional motifs are annotated also collated as UTRsite where more specific information on cross-links to interacting...
Abstract Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address landscape IRD in largest cohort Spanish patients reported date. A retrospective hospital-based cross-sectional study carried out on 6089 affected individuals (from 4403 unrelated families), referred for testing from all autonomous communities. Clinical, demographic...
Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder characterized by ataxia, progressive motor deterioration, and loss of cerebellar Purkinje cells. To investigate SCA1 pathogenesis to gain insight into the function gene product ataxin-1, novel protein without homology previously described proteins, we generated mice with targeted deletion in murine Sca1 gene. Mice lacking ataxin-1 are viable, fertile, do not show any evidence or neurodegeneration. However, null demonstrate...
MicroRNAs (miRNAs) and transcription factors control eukaryotic cell proliferation, differentiation, metabolism through their specific gene regulatory networks. However, differently from factors, our understanding of the processes regulated by miRNAs is currently limited. Here, we introduce network analysis as a new means for gaining insight into miRNA biology. A systematic all human based on Co-expression Meta-analysis Targets (CoMeTa) assigns high-resolution biological functions to...
purpose. MicroRNAs (miRNAs) are a class of small, endogenous RNAs that negatively regulate gene expression post-transcriptionally by binding to target sites in the 3′ untranslated region (UTR) messenger RNAs. Although they have been found developmental and physiological processes several organs tissues, their role eye transcriptome is completely unknown. This study was conducted gain understanding eye-related function mammals, looking for miRNAs significantly expressed mouse means...
MicroRNAs (miRNAs) are small noncoding RNAs that control gene expression by inducing RNA cleavage or translational inhibition. Most human miRNAs intragenic and transcribed as part of their hosting transcription units. We hypothesized the profiles miRNA host genes targets inversely correlated devised a novel procedure, HOCTAR (host oppositely targets), which ranks predicted target based on anti-correlated behavior relative to respective genes. is first tool for systematic prediction utilizes...
MicroRNAs (miRNAs) are small noncoding RNAs that have important roles in the regulation of gene expression. The individual miRNAs controlling vertebrate eye development remain, however, largely unexplored. Here, we show a single miRNA, miR-204, regulates multiple aspects medaka fish ( Oryzias latipes ). Morpholino-mediated ablation miR-204 expression resulted an phenotype characterized by microphthalmia, abnormal lens formation, and altered dorsoventral (D-V) patterning retina, which is...
Abstract Background MicroRNAs (miRNAs) are key regulators of biological processes. To define miRNA function in the eye, it is essential to determine a high-resolution profile their spatial and temporal distribution. Results In this report, we present first comprehensive survey expression ocular tissues, using both microarray RNA situ hybridization (ISH) procedures. We initially determined profiles miRNAs retina, lens, cornea retinal pigment epithelium adult mouse eye by microarray. Each...
microRNAs (miRNAs) are a class of small RNAs (19-25 nucleotides in length) processed from double-stranded hairpin precursors. They negatively regulate gene expression animals, by binding, with imperfect base pairing, to target sites messenger (usually 3' untranslated regions) thereby either reducing translational efficiency or determining transcript degradation. Considering that each miRNA can regulate, on average, the approximately several hundred genes, apparatus participate control large...
<h3>Objective</h3>To investigate the involvement of Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsyndromic autosomal recessive retinitis pigmentosa (RP).<h3>Methods</h3>Homozygosity mapping a patient with isolated RP was followed by sequence analysis. We performed restriction fragment length polymorphism analysis allele 2007 patients or and 1824 ethnically matched controls. Patients 2 variants underwent extensive clinical ophthalmologic assessment.<h3>Results</h3>In an proband...