Sfoglia per Autore
Epilepsy-causing mutations in kv7.2 c-terminus affect binding and functional modulation by calmodulin.
2015-01-01 Ambrosino, Paolo; Alaimo, A; Bartollino, Silvia; Manocchio, Laura; De Maria, Michela; Mosca, Ilaria; Gomis Perez, C; Alberdi, A; Scambia, G; Lesca, G; Villarroel, A; Taglialatela, Maurizio; Soldovieri, Maria Virginia
Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate
2016-01-01 Soldovieri, Maria Virginia; Ambrosino, Paolo; Mosca, Ilaria; De Maria, M; Moretto, E; Miceli, F; Alaimo, A; Iraci, N; Manocchio, L; Medoro, Alessandro; Passafaro, M; Taglialatela, Maurizio
Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy
2016-01-01 Rizzo, F; Ambrosino, P; Guacci, A; Chetta, M; Marchese, G; Rocco, T; Soldovieri, Mv; Manocchio, L; Mosca, I; Casara, G; Vecchi, Paolo Maria; Taglialatela, M; Coppola, G; Weisz, A
Effects of natural and synthetic isothiocyanate-based H2S-releasers against chemotherapy-induced neuropathic pain: Role of Kv7 potassium channels
2017-01-01 Di Cesare Mannelli, Lorenzo; Lucarini, Elena; Micheli, Laura; Mosca, Ilaria; Ambrosino, Paolo; Soldovieri, Maria Virginia; Martelli, Alma; Testai, Lara; Taglialatela, Maurizio; Calderone, Vincenzo; Ghelardini, Carla
Identification of a Potent Tryptophan-Based TRPM8 Antagonist with in Vivo Analgesic Activity
2018-01-01 Bertamino, Alessia; Iraci, Nunzio; Ostacolo, Carmine; Ambrosino, Paolo; Musella, Simona; Di Sarno, Veronica; Ciaglia, Tania; Pepe, Giacomo; Sala, Marina; Soldovieri, Maria Virginia; Mosca, Ilaria; Gonzalez-Rodriguez, Sara; Fernandez-Carvajal, Asia; Ferrer-Montiel, Antonio; Novellino, Ettore; Taglialatela, Maurizio; Campiglia, Pietro; Gomez-Monterrey, Isabel
Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+Channel Gating
2018-01-01 Ambrosino, Paolo; Freri, Elena; Castellotti, Barbara; Soldovieri, Maria Virginia; Mosca, Ilaria; Manocchio, Laura; Gellera, Cinzia; Canafoglia, Laura; Franceschetti, Silvana; Salis, Barbara; Iraci, Nunzio; Miceli, Francesco; Ragona, Francesca; Granata, Tiziana; Difrancesco, Jacopo C.; Taglialatela, Maurizio
Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy
2018-01-01 Dilena, Robertino; Difrancesco, Jacopo C.; Soldovieri, Maria Virginia; Giacobbe, Antonella; Ambrosino, Paolo; Mosca, Ilaria; Galli, Maria Albina; Guez, Sophie; Fumagalli, Monica; Miceli, Francesco; Cattaneo, Dario; Darra, Francesca; Gennaro, Elena; Zara, Federico; Striano, Pasquale; Castellotti, Barbara; Gellera, Cinzia; Varesio, Costanza; Veggiotti, Pierangelo; Taglialatela, Maurizio
Pharmacological Targeting Of Neuronal Kv7.2/3 Channels: A Focus On Chemotypes And Receptor Sites
2018-01-01 Miceli, Francesco; Soldovieri, Maria Virginia; Ambrosino, Paolo; Manocchio, Laura; Mosca, Ilaria; Taglialatela, Maurizio
De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy
2018-01-01 Ambrosino, Paolo; Soldovieri, Maria Virginia; Bast, Thomas; Turnpenny, Peter D.; Uhrig, Sabine; Biskup, Saskia; Döcker, Miriam; Fleck, Thilo; Mosca, Ilaria; Manocchio, Laura; Iraci, Nunzio; Taglialatela, Maurizio; Lemke, Johannes R.
Epileptic encephalopathy in a patientwith a novel variant in the Kv7.2 S2 transmembrane segment: Clinical, genetic, and functional features
2019-01-01 Soldovieri, M. V.; Ambrosino, P.; Mosca, I.; Miceli, F.; Franco, C.; Canzoniero, L. M. T.; Kline-Fath, B.; Cooper, E. C.; Venkatesan, C.; Taglialatela, M.
Activation of Kv7 potassium channels inhibits intracellular Ca2+ increases triggered by TRPV1-mediated pain-inducing stimuli in F11 immortalized sensory neurons
2019-01-01 Ambrosino, P.; Soldovieri, M. V.; Di Zazzo, E.; Paventi, G.; Iannotti, F. A.; Mosca, I.; Miceli, F.; Franco, C.; Canzoniero, L. M. T.; Taglialatela, M.
Identificazione di un nuovo meccanismo molecolare e correlazioni genotipo-fenotipo nelle encefalopatie dello sviluppo associate a varianti nei geni KCNQ2 e KCNQ3
2019-03-06 Mosca, Ilaria
Calcium cytotoxicity sensitizes prostate cancer cells to standard-of-care treatments for locally advanced tumors
2020-01-01 Alaimo, A.; Lorenzoni, M.; Ambrosino, P.; Bertossi, A.; Bisio, A.; Macchia, A.; Zoni, E.; Genovesi, S.; Cambuli, F.; Foletto, V.; De Felice, D.; Soldovieri, M. V.; Mosca, I.; Gandolfi, F.; Brunelli, M.; Petris, G.; Cereseto, A.; Villarroel, A.; Thalmann, G.; Carbone, F. G.; Kruithof-de Julio, M.; Barbareschi, M.; Romanel, A.; Taglialatela, M.; Lunardi, A.
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy
2020-01-01 Soldovieri, M. V.; Freri, E.; Ambrosino, P.; Rivolta, I.; Mosca, I.; Binda, A.; Murano, C.; Ragona, F.; Canafoglia, L.; Vannicola, C.; Solazzi, R.; Granata, T.; Castellotti, B.; Messina, G.; Gellera, C.; Labalme, A.; Lesca, G.; Difrancesco, J. C.; Taglialatela, M.
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy
2022-01-01 Nappi, Mario; Barrese, Vincenzo; Carotenuto, Lidia; Lesca, Gaetan; Labalme, Audrey; Ville, Dorothee; Smol, Thomas; Rama, Mélanie; Dieux-Coeslier, Anne; Rivier-Ringenbach, Clotilde; Soldovieri, Maria Virginia; Ambrosino, Paolo; Mosca, Ilaria; Pusch, Michael; Miceli, Francesco; Taglialatela, Maurizio
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
2022-01-01 Miceli, Francesco; Millevert, Charissa; Soldovieri, Maria Virginia; Mosca, Ilaria; Ambrosino, Paolo; Carotenuto, Lidia; Schrader, Dewi; Lee, Hyun Kyung; Riviello, James; Hong, William; Risen, Sarah; Emrick, Lisa; Amin, Hitha; Ville, Dorothée; Edery, Patrick; de Bellescize, Julitta; Michaud, Vincent; Van-Gils, Julien; Goizet, Cyril; Willemsen, Marjolein H; Kleefstra, Tjitske; Møller, Rikke S; Bayat, Allan; Devinsky, Orrin; Sands, Tristan; Korenke, G Christoph; Kluger, Gerhard; Mefford, Heather C; Brilstra, Eva; Lesca, Gaetan; Milh, Mathieu; Cooper, Edward C; Taglialatela, Maurizio; Weckhuysen, Sarah
Kv7.4 channels regulate potassium permeability in neuronal mitochondria
2022-01-01 Paventi, G.; Soldovieri, M. V.; Servettini, I.; Barrese, V.; Miceli, F.; Sisalli, M. J.; Ambrosino, P.; Mosca, I.; Vinciguerra, I.; Testai, L.; Scorziello, A.; Raimo, G.; Calderone, V.; Passarella, S.; Taglialatela, M.
Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes
2022-01-01 Mosca, Ilaria; Rivolta, Ilaria; Labalme, Audrey; Ambrosino, Paolo; Castellotti, Barbara; Gellera, Cinzia; Granata, Tiziana; Freri, Elena; Binda, Anna; Lesca, Gaetan; Difrancesco, Jacopo C; Soldovieri, Maria Virginia; Taglialatela, Maurizio
KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties
2023-01-01 Cioclu, Maria Cristina; Mosca, Ilaria; Ambrosino, Paolo; Puzo, Deborah; Bayat, Allan; Wortmann, Saskia B; Koch, Johannes; Strehlow, Vincent; Shirai, Kentaro; Matsumoto, Naomichi; Sanders, Stephan J; Michaud, Vincent; Legendre, Marine; Riva, Antonella; Striano, Pasquale; Muhle, Hiltrud; Pendziwiat, Manuela; Lesca, Gaetan; Mangano, Giuseppe Donato; Nardello, Rosaria; Lemke, Johannes R; Møller, Rikke S; Soldovieri, Maria Virginia; Rubboli, Guido; Taglialatela, Maurizio
A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine
2023-01-01 Ambrosino, Paolo; Ragona, Francesca; Mosca, Ilaria; Vannicola, Chiara; Canafoglia, Laura; Solazzi, Roberta; Rivolta, Ilaria; Freri, Elena; Granata, Tiziana; Messina, Giuliana; Castellotti, Barbara; Gellera, Cinzia; Soldovieri, Maria Virginia; Difrancesco, Jacopo Cosimo; Taglialatela, Maurizio
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Epilepsy-causing mutations in kv7.2 c-terminus affect binding and functional modulation by calmodulin. | 1-gen-2015 | Ambrosino, Paolo; Alaimo, A; Bartollino, Silvia; Manocchio, Laura; De Maria, Michela; Mosca, Ilaria; Gomis Perez, C; Alberdi, A; Scambia, G; Lesca, G; Villarroel, A; Taglialatela, Maurizio; Soldovieri, Maria Virginia | |
| Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate | 1-gen-2016 | Soldovieri, Maria Virginia; Ambrosino, Paolo; Mosca, Ilaria; De Maria, M; Moretto, E; Miceli, F; Alaimo, A; Iraci, N; Manocchio, L; Medoro, Alessandro; Passafaro, M; Taglialatela, Maurizio | |
| Characterization of two de novo KCNT1 mutations in children with malignant migrating partial seizures in infancy | 1-gen-2016 | Rizzo, F; Ambrosino, P; Guacci, A; Chetta, M; Marchese, G; Rocco, T; Soldovieri, Mv; Manocchio, L; Mosca, I; Casara, G; Vecchi, Paolo Maria; Taglialatela, M; Coppola, G; Weisz, A | |
| Effects of natural and synthetic isothiocyanate-based H2S-releasers against chemotherapy-induced neuropathic pain: Role of Kv7 potassium channels | 1-gen-2017 | Di Cesare Mannelli, Lorenzo; Lucarini, Elena; Micheli, Laura; Mosca, Ilaria; Ambrosino, Paolo; Soldovieri, Maria Virginia; Martelli, Alma; Testai, Lara; Taglialatela, Maurizio; Calderone, Vincenzo; Ghelardini, Carla | |
| Identification of a Potent Tryptophan-Based TRPM8 Antagonist with in Vivo Analgesic Activity | 1-gen-2018 | Bertamino, Alessia; Iraci, Nunzio; Ostacolo, Carmine; Ambrosino, Paolo; Musella, Simona; Di Sarno, Veronica; Ciaglia, Tania; Pepe, Giacomo; Sala, Marina; Soldovieri, Maria Virginia; Mosca, Ilaria; Gonzalez-Rodriguez, Sara; Fernandez-Carvajal, Asia; Ferrer-Montiel, Antonio; Novellino, Ettore; Taglialatela, Maurizio; Campiglia, Pietro; Gomez-Monterrey, Isabel | |
| Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+Channel Gating | 1-gen-2018 | Ambrosino, Paolo; Freri, Elena; Castellotti, Barbara; Soldovieri, Maria Virginia; Mosca, Ilaria; Manocchio, Laura; Gellera, Cinzia; Canafoglia, Laura; Franceschetti, Silvana; Salis, Barbara; Iraci, Nunzio; Miceli, Francesco; Ragona, Francesca; Granata, Tiziana; Difrancesco, Jacopo C.; Taglialatela, Maurizio | |
| Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy | 1-gen-2018 | Dilena, Robertino; Difrancesco, Jacopo C.; Soldovieri, Maria Virginia; Giacobbe, Antonella; Ambrosino, Paolo; Mosca, Ilaria; Galli, Maria Albina; Guez, Sophie; Fumagalli, Monica; Miceli, Francesco; Cattaneo, Dario; Darra, Francesca; Gennaro, Elena; Zara, Federico; Striano, Pasquale; Castellotti, Barbara; Gellera, Cinzia; Varesio, Costanza; Veggiotti, Pierangelo; Taglialatela, Maurizio | |
| Pharmacological Targeting Of Neuronal Kv7.2/3 Channels: A Focus On Chemotypes And Receptor Sites | 1-gen-2018 | Miceli, Francesco; Soldovieri, Maria Virginia; Ambrosino, Paolo; Manocchio, Laura; Mosca, Ilaria; Taglialatela, Maurizio | |
| De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy | 1-gen-2018 | Ambrosino, Paolo; Soldovieri, Maria Virginia; Bast, Thomas; Turnpenny, Peter D.; Uhrig, Sabine; Biskup, Saskia; Döcker, Miriam; Fleck, Thilo; Mosca, Ilaria; Manocchio, Laura; Iraci, Nunzio; Taglialatela, Maurizio; Lemke, Johannes R. | |
| Epileptic encephalopathy in a patientwith a novel variant in the Kv7.2 S2 transmembrane segment: Clinical, genetic, and functional features | 1-gen-2019 | Soldovieri, M. V.; Ambrosino, P.; Mosca, I.; Miceli, F.; Franco, C.; Canzoniero, L. M. T.; Kline-Fath, B.; Cooper, E. C.; Venkatesan, C.; Taglialatela, M. | |
| Activation of Kv7 potassium channels inhibits intracellular Ca2+ increases triggered by TRPV1-mediated pain-inducing stimuli in F11 immortalized sensory neurons | 1-gen-2019 | Ambrosino, P.; Soldovieri, M. V.; Di Zazzo, E.; Paventi, G.; Iannotti, F. A.; Mosca, I.; Miceli, F.; Franco, C.; Canzoniero, L. M. T.; Taglialatela, M. | |
| Identificazione di un nuovo meccanismo molecolare e correlazioni genotipo-fenotipo nelle encefalopatie dello sviluppo associate a varianti nei geni KCNQ2 e KCNQ3 | 6-mar-2019 | Mosca, Ilaria | |
| Calcium cytotoxicity sensitizes prostate cancer cells to standard-of-care treatments for locally advanced tumors | 1-gen-2020 | Alaimo, A.; Lorenzoni, M.; Ambrosino, P.; Bertossi, A.; Bisio, A.; Macchia, A.; Zoni, E.; Genovesi, S.; Cambuli, F.; Foletto, V.; De Felice, D.; Soldovieri, M. V.; Mosca, I.; Gandolfi, F.; Brunelli, M.; Petris, G.; Cereseto, A.; Villarroel, A.; Thalmann, G.; Carbone, F. G.; Kruithof-de Julio, M.; Barbareschi, M.; Romanel, A.; Taglialatela, M.; Lunardi, A. | |
| Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy | 1-gen-2020 | Soldovieri, M. V.; Freri, E.; Ambrosino, P.; Rivolta, I.; Mosca, I.; Binda, A.; Murano, C.; Ragona, F.; Canafoglia, L.; Vannicola, C.; Solazzi, R.; Granata, T.; Castellotti, B.; Messina, G.; Gellera, C.; Labalme, A.; Lesca, G.; Difrancesco, J. C.; Taglialatela, M. | |
| Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy | 1-gen-2022 | Nappi, Mario; Barrese, Vincenzo; Carotenuto, Lidia; Lesca, Gaetan; Labalme, Audrey; Ville, Dorothee; Smol, Thomas; Rama, Mélanie; Dieux-Coeslier, Anne; Rivier-Ringenbach, Clotilde; Soldovieri, Maria Virginia; Ambrosino, Paolo; Mosca, Ilaria; Pusch, Michael; Miceli, Francesco; Taglialatela, Maurizio | |
| KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism | 1-gen-2022 | Miceli, Francesco; Millevert, Charissa; Soldovieri, Maria Virginia; Mosca, Ilaria; Ambrosino, Paolo; Carotenuto, Lidia; Schrader, Dewi; Lee, Hyun Kyung; Riviello, James; Hong, William; Risen, Sarah; Emrick, Lisa; Amin, Hitha; Ville, Dorothée; Edery, Patrick; de Bellescize, Julitta; Michaud, Vincent; Van-Gils, Julien; Goizet, Cyril; Willemsen, Marjolein H; Kleefstra, Tjitske; Møller, Rikke S; Bayat, Allan; Devinsky, Orrin; Sands, Tristan; Korenke, G Christoph; Kluger, Gerhard; Mefford, Heather C; Brilstra, Eva; Lesca, Gaetan; Milh, Mathieu; Cooper, Edward C; Taglialatela, Maurizio; Weckhuysen, Sarah | |
| Kv7.4 channels regulate potassium permeability in neuronal mitochondria | 1-gen-2022 | Paventi, G.; Soldovieri, M. V.; Servettini, I.; Barrese, V.; Miceli, F.; Sisalli, M. J.; Ambrosino, P.; Mosca, I.; Vinciguerra, I.; Testai, L.; Scorziello, A.; Raimo, G.; Calderone, V.; Passarella, S.; Taglialatela, M. | |
| Functional Characterization of Two Variants at the Intron 6-Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes | 1-gen-2022 | Mosca, Ilaria; Rivolta, Ilaria; Labalme, Audrey; Ambrosino, Paolo; Castellotti, Barbara; Gellera, Cinzia; Granata, Tiziana; Freri, Elena; Binda, Anna; Lesca, Gaetan; Difrancesco, Jacopo C; Soldovieri, Maria Virginia; Taglialatela, Maurizio | |
| KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties | 1-gen-2023 | Cioclu, Maria Cristina; Mosca, Ilaria; Ambrosino, Paolo; Puzo, Deborah; Bayat, Allan; Wortmann, Saskia B; Koch, Johannes; Strehlow, Vincent; Shirai, Kentaro; Matsumoto, Naomichi; Sanders, Stephan J; Michaud, Vincent; Legendre, Marine; Riva, Antonella; Striano, Pasquale; Muhle, Hiltrud; Pendziwiat, Manuela; Lesca, Gaetan; Mangano, Giuseppe Donato; Nardello, Rosaria; Lemke, Johannes R; Møller, Rikke S; Soldovieri, Maria Virginia; Rubboli, Guido; Taglialatela, Maurizio | |
| A novel KCNC1 gain-of-function variant causing developmental and epileptic encephalopathy: "Precision medicine" approach with fluoxetine | 1-gen-2023 | Ambrosino, Paolo; Ragona, Francesca; Mosca, Ilaria; Vannicola, Chiara; Canafoglia, Laura; Solazzi, Roberta; Rivolta, Ilaria; Freri, Elena; Granata, Tiziana; Messina, Giuliana; Castellotti, Barbara; Gellera, Cinzia; Soldovieri, Maria Virginia; Difrancesco, Jacopo Cosimo; Taglialatela, Maurizio |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile