Search Results - "DEMONTIS, Gian Carlo"

Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery by Giannelli, Serena G, Luoni, Mirko, Castoldi, Valerio, Massimino, Luca, Cabassi, Tommaso, Angeloni, Debora, Demontis, Gian Carlo, Leocani, Letizia, Andreazzoli, Massimiliano, Broccoli, Vania

“…Abstract P23H is the most common mutation in the RHODOPSIN (RHO) gene leading to a dominant form of retinitis pigmentosa (RP), a rod photoreceptor degeneration…”
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Depleted Calcium Stores and Increased Calcium Entry in Rod Photoreceptors of the Cacna2d4 Mouse Model of Cone-Rod Dystrophy RCD4 by Vellani, Vittorio, Mauro, Giovanna, Demontis, Gian Carlo

“…Unidentified pathogenetic mechanisms and genetic and clinical heterogeneity represent critical factors hindering the development of treatments for inherited…”
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Polyunsaturated Lipids in the Light-Exposed and Prooxidant Retinal Environment by Longoni, Biancamaria, Demontis, Gian Carlo

“…The retina is an oxidative stress-prone tissue due to high content of polyunsaturated lipids, exposure to visible light stimuli in the 400-480 nm range, and…”
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Adult Human Müller Glia Cells Are a Highly Efficient Source of Rod Photoreceptors by Giannelli, Serena G., Demontis, Gian Carlo, Pertile, Grazia, Rama, Paolo, Broccoli, Vania

“…There is growing evidence that Müller glia cells (MGCs) might act as regenerative elements in injured retinas of fishes and amniotes. However, their…”
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An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of hRPE65 by Poli, Giulio, Demontis, Gian Carlo, Sodi, Andrea, Saba, Alessandro, Rizzo, Stanislao, Macchia, Marco, Tuccinardi, Tiziano

“…hRPE65 is a fundamental enzyme of the retinoid visual cycle, and many missense mutations affecting its expression or function are associated with a wide range…”
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Retinoid Synthesis Regulation by Retinal Cells in Health and Disease by Andreazzoli, Massimiliano, Longoni, Biancamaria, Angeloni, Debora, Demontis, Gian Carlo

“…Vision starts in retinal photoreceptors when specialized proteins (opsins) sense photons via their covalently bonded vitamin A derivative 11cis retinaldehyde…”
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Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations by Poli, Giulio, Barravecchia, Ivana, Demontis, Gian Carlo, Sodi, Andrea, Saba, Alessandro, Rizzo, Stanislao, Macchia, Marco, Tuccinardi, Tiziano

“…The human retinal pigment epithelium-specific 65-kDa protein (hRPE65) plays a crucial role within the retinoid visual cycle and several mutations affecting…”
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Increasing cell culture density during a developmental window prevents fated rod precursors derailment toward hybrid rod-glia cells by Barravecchia, Ivana, De Cesari, Chiara, Guadagni, Viviana, Signore, Giovanni, Bertolini, Edoardo, Giannelli, Serena Gea, Scebba, Francesca, Martini, Davide, Pè, Mario Enrico, Broccoli, Vania, Andreazzoli, Massimiliano, Angeloni, Debora, Demontis, Gian Carlo

“…In proliferating multipotent retinal progenitors, transcription factors dynamics set the fate of postmitotic daughter cells, but postmitotic cell fate…”
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Inducible Pluripotent Stem Cells to Model and Treat Inherited Degenerative Diseases of the Outer Retina: 3D-Organoids Limitations and Bioengineering Solutions by Andreazzoli, Massimiliano, Barravecchia, Ivana, De Cesari, Chiara, Angeloni, Debora, Demontis, Gian Carlo

“…Inherited retinal degenerations (IRD) affecting either photoreceptors or pigment epithelial cells cause progressive visual loss and severe disability, up to…”
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Functional and molecular characterization of rod-like cells from retinal stem cells derived from the adult ciliary epithelium by Demontis, Gian Carlo, Aruta, Claudia, Comitato, Antonella, De Marzo, Anna, Marigo, Valeria

“…In vitro generation of photoreceptors from stem cells is of great interest for the development of regenerative medicine approaches for patients affected by…”
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Electrophysiological Profile Remodeling via Selective Suppression of Voltage-Gated Currents by CLN1 /PPT1 Overexpression in Human Neuronal-Like Cells by Demontis, Gian Carlo, Pezzini, Francesco, Margari, Elisa, Bianchi, Marzia, Longoni, Biancamaria, Doccini, Stefano, Lalowski, Maciej Maurycy, Santorelli, Filippo Maria, Simonati, Alessandro

“…CLN1 disease (OMIM #256730) is an inherited neurological disorder of early childhood with epileptic seizures and premature death. It is associated with…”
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Hydroxyindole-O-methyltransferase (HIOMT) activity in the retina of melatonin-proficient mice by Betti, Laura, Palego, Lionella, Demontis, Gian Carlo, Miraglia, Fabiana, Giannaccini, Gino

“…Numerous pieces of evidence support the expression by the mammalian retina of Hydroxyindole-O-methyltransferase (HIOMT, EC 2.1.1.4), the enzyme directly…”
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High-pass filtering of input signals by the Ih current in a non-spiking neuron, the retinal rod bipolar cell by Cangiano, Lorenzo, Gargini, Claudia, Della Santina, Luca, Demontis, Gian Carlo, Cervetto, Luigi

“…Hyperpolarization-activated cyclic nucleotide-sensitive (HCN) channels mediate the I(f) current in heart and I(h) throughout the nervous system. In spiking…”
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HCN1 channels: A versatile tool for signal processing by primary sensory neurons by Barravecchia, Ivana, Demontis, Gian Carlo

“…Most primary sensory neurons (PSNs) generate a slowly-activating inward current in response to membrane hyperpolarization (Ih) and express HCN1 along with…”
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Functional characterisation and subcellular localisation of HCN1 channels in rabbit retinal rod photoreceptors by Demontis, Gian Carlo, Moroni, Anna, Gravante, Biagio, Altomare, Claudia, Longoni, Biancamaria, Cervetto, Luigi, DiFrancesco, Dario

“…Gating of voltage-dependent conductances in retinal photoreceptors is the first step of a process leading to the enhancement of the temporal performance of the…”
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Properties and functional roles of hyperpolarization-gated currents in guinea-pig retinal rods by Demontis, Gian Carlo, Longoni, Biancamaria, Barcaro, Umberto, Cervetto, Luigi

“…The inward rectification induced by membrane hyperpolarization was studied in adult guinea-pig rods by the perforated-patch-clamp technique. CsCl blocked the…”
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An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of h RPE65 by Poli, Giulio, Demontis, Gian Carlo, Sodi, Andrea, Saba, Alessandro, Rizzo, Stanislao, Macchia, Marco, Tuccinardi, Tiziano

“…RPE65 is a fundamental enzyme of the retinoid visual cycle, and many missense mutations affecting its expression or function are associated with a wide range…”
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Endocrine adaptations across physical and psychological stressors in long-term space flights by Angeloni, Debora, Demontis, Gian Carlo

“…The human body needs to adapt to both psychological pressure and physical stressors, such as radiation and microgravity, to cope with the extreme environment…”
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Monoacylglycerol lipase (MAGL) inhibitors based on a diphenylsulfide-benzoylpiperidine scaffold by Bononi, Giulia, Tonarini, Giacomo, Poli, Giulio, Barravecchia, Ivana, Caligiuri, Isabella, Macchia, Marco, Rizzolio, Flavio, Demontis, Gian Carlo, Minutolo, Filippo, Granchi, Carlotta, Tuccinardi, Tiziano

“…Monoacylglycerol lipase (MAGL) is an enzyme belonging to the endocannabinoid system that mainly metabolizes the endocannabinoid 2-arachidonoylglycerol (2-AG)…”
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Predicting potentially pathogenic effects of h RPE65 missense mutations: a computational strategy based on molecular dynamics simulations by Poli, Giulio, Barravecchia, Ivana, Demontis, Gian Carlo, Sodi, Andrea, Saba, Alessandro, Rizzo, Stanislao, Macchia, Marco, Tuccinardi, Tiziano

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