Search results for "cilia"
showing 10 items of 3650 documents
Oxidative Stress and Endoplasmic Reticulum Stress in Rare Respiratory Diseases
2021
Several studies have shown that some rare respiratory diseases, such as alpha-1 antitrypsin deficiency (AATD), idiopathic pulmonary fibrosis (IPF), cystic fibrosis (CF), and primary ciliary dyskinesia (PCD) present oxidative stress (OS) and endoplasmic reticulum (ER) stress. Their involvement in these pathologies and the use of antioxidants as therapeutic agents to minimize the effects of OS are discussed in this review.
Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.
2017
// Antonino Tuttolomondo 1 , Irene Simonetta 1 , Giovanni Duro 2 , Rosaria Pecoraro 1 , Salvatore Miceli 1 , Paolo Colomba 2 , Carmela Zizzo 2 , Antonia Nucera 3, 4 , Mario Daidone 1 , Tiziana Di Chiara 1 , Rosario Scaglione 1 , Vittoriano Della Corte 1 , Francesca Corpora 1 , Danai Vogiatzis 1 and Antonio Pinto 1 1 U.O.C di Medicina Interna con Stroke Care, Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S), University of Palermo, Palermo, Italy 2 CNR-IBIM: Institute of Biomedicine and Molecular Immunology “A. Monroy” Palermo, Palermo, Italy 3 Stroke Unit, Neurology, Saint Andrea Hospital, La Spezia, Italy 4 Department of Clinical Neurological Sciences, Western Univer…
Subacute effects of ozone exposure on cultivated human respiratory mucosa.
2001
This study was designed to investigate subacute effects of long-term exposure of both healthy and chronically inflamed human respiratory mucosa to ozone. Functional and metabolic effects on ciliary beat frequency (CBF), release of interleukin 8 (IL-8), interleukin 4 (IL-4), and γ interferon (g-INF), as well as cellular viability and cytotoxicity, were monitored. Cell cultures of 60 specimens (healthy mucosa: n = 30, inflamed mucosa: n = 30) were exposed to synthetic air and to ozone-enriched synthetic air in different concentrations of WO, 500, and WOO μg/m3. Continuous expositions were performed using an air/liquid interface cell culture technique for a period of 4 weeks. CBF was monitore…
Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells
2018
SUMMARY Primary cilia are sensory organelles that protrude from the cell membrane. Defects in the primary cilium cause ciliopathy disorders, with retinal degeneration as a prominent phenotype. Here, we demonstrate that the retinal pigment epithelium (RPE), essential for photoreceptor development and function, requires a functional primary cilium for complete maturation and that RPE maturation defects in ciliopathies precede photoreceptor degeneration. Pharmacologically enhanced ciliogenesis in wild-type induced pluripotent stem cells (iPSC)-RPE leads to fully mature and functional cells. In contrast, ciliopathy patient-derived iPSC-RPE and iPSC-RPE with a knockdown of ciliary-trafficking pr…
Impact of the Usher syndrome on olfaction
2015
Usher syndrome is a genetically and clinically heterogeneous disease in humans, characterized by sensorineural hearing loss, retinitis pigmentosa and vestibular dysfunction. This disease is caused by mutations in genes encoding proteins that form complex networks in different cellular compartments. Currently, it remains unclear whether the Usher proteins also form networks within the olfactory epithelium (OE). Here, we describe Usher gene expression at the mRNA and protein level in the OE of mice and showed interactions between these proteins and olfactory signaling proteins. Additionally, we analyzed the odor sensitivity of different Usher syndrome mouse models using electro-olfactogram re…
SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins.
2019
The human Usher syndrome (USH) is a retinal ciliopathy, characterized by profound congenital deafness, variable vestibular dysfunction and pre-pubertal onset of retinitis pigmentosa. In the effected sensory cells, USH protein networks are assumed to function in ciliary transport processes. The USH1G protein SANS is a scaffold of the ciliary/periciliary USH protein network of photoreceptor cells. Moreover, SANS is associated with microtubules, the transport routes for protein delivery toward the cilium. To enlighten the role of SANS in ciliary transport processes, we aimed to identify transport related proteins associated with SANS. The intraflagellar transport (IFT) system is a conserved me…
Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School
2018
Abstract Primary ciliary dyskinesia (PCD) is a chronic suppurative airways disease that is usually recessively inherited and has marked clinical phenotypic heterogeneity. Classic symptoms include neonatal respiratory distress, chronic rhinitis since early childhood, chronic otitis media, recurrent airway infections leading to bronchiectasis, chronic sinusitis, laterality defects with and without congenital heart disease including abnormal situs in approximately 50% of the cases, and male infertility. Lung function deteriorates progressively from childhood throughout life. ‘Better Experimental Approaches to Treat Primary Ciliary Dyskinesia’ (BEAT-PCD) is a network of scientists and clinician…
Peace Mediations: Recourse to the Arbitration in the kingdom of Valencia (XIV-XV Centuries)
2017
Arbitration, as a means of conciliation, had an extraordinary diffusion in the Medieval West. It had the advantage of being more quick and, generally, less expensive that the causes resolved by the ordinary courts. Moreover, it tried to reconcile the interests of the warring parties. This paper seeks to define the main features of the arbitration in the kingdom of Valencia during the Middle Ages focusing the observation on the small rural community of Vilafranca.
Estimating the dwarfing rate of an extinct Sicilian elephant.
2021
Summary Evolution on islands, together with the often extreme phenotypic changes associated with it, has attracted much interest from evolutionary biologists. However, measuring the rate of change of phenotypic traits of extinct animals can be challenging, in part due to the incompleteness of the fossil record. Here, we use combined molecular and fossil evidence to define the minimum and maximum rate of dwarfing in an extinct Mediterranean dwarf elephant from Puntali Cave (Sicily). 1 Despite the challenges associated with recovering ancient DNA from warm climates, 2 we successfully retrieved a mitogenome from a sample with an estimated age between 175,500 and 50,000 years. Our results sugge…
SICILIAN NATURALISTIC NEWS: 11 Aclista alticollis; 12 Mycomya (Mycomya) prominens; 13 Empis (Leptempis) confusa; 14 Sciapus platypterus; 15 Myopa pic…
2023
SICILIAN NATURALISTIC NEWS: 11 Aclista alticollis; 12 Mycomya (Mycomya) prominens; 13 Empis (Leptempis) confusa; 14 Sciapus platypterus; 15 Myopa picta; 16 Diaea dorsata; 17 Franklinothrips megalops; 18 Dasyhelea bilineata; 19 Forcipomyia (Synthridomyia) murina; 20 Forcipomyia (Euprojoannisia) psilonota; 21 Incertana drepanensis