Sfoglia per Autore
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
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.
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
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
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
A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy
2019-01-01 Lauritano, A.; Moutton, S.; Longobardi, E.; Tran Mau-Them, F.; Laudati, G.; Nappi, P.; Soldovieri, M. V.; Ambrosino, P.; Cataldi, M.; Jouan, T.; Lehalle, D.; Maurey, H.; Philippe, C.; Miceli, F.; Vitobello, A.; Taglialatela, M.
Autism and developmental disability caused by KCNQ3 gain-of-function variants
2019-01-01 Sands, T. T.; Miceli, F.; Lesca, G.; Beck, A. E.; Sadleir, L. G.; Arrington, D. K.; Schonewolf-Greulich, B.; Moutton, S.; Lauritano, A.; Nappi, P.; Soldovieri, M. V.; Scheffer, I. E.; Mefford, H. C.; Stong, N.; Heinzen, E. L.; Goldstein, D. B.; Perez, A. G.; Kossoff, E. H.; Stocco, A.; Sullivan, J. A.; Shashi, V.; Gerard, B.; Francannet, C.; Bisgaard, A. -M.; Tumer, Z.; Willems, M.; Rivier, F.; Vitobello, A.; Thakkar, K.; Rajan, D. S.; Barkovich, A. J.; Weckhuysen, S.; Cooper, E. C.; Taglialatela, M.; Cilio, M. 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.
Synthesis and Pharmacological Characterization of Conformationally Restricted Retigabine Analogues as Novel Neuronal Kv7 Channel Activators
2020-01-01 Ostacolo, Carmine; Miceli, Francesco; Di Sarno, Veronica; Nappi, Piera; Iraci, Nunzio; Soldovieri, Maria Virginia; Ciaglia, Tania; Ambrosino, Paolo; Vestuto, Vincenzo; Lauritano, Anna; Musella, Simona; Pepe, Giacomo; Basilicata, Manuela Giovanna; Manfra, Michele; Perinelli, Diego Romano; Novellino, Ettore; Bertamino, Alessia; Gomez-Monterrey, Isabel M; Campiglia, Pietro; Taglialatela, Maurizio
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.
Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction
2020-01-01 Nappi, P.; Miceli, F.; Soldovieri, M. V.; Ambrosino, P.; Barrese, V.; Taglialatela, M.
A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate
2020-01-01 Miceli, F.; Carotenuto, L.; Barrese, V.; Soldovieri, M. V.; Heinzen, E. L.; Mandel, A. M.; Lippa, N.; Bier, L.; Goldstein, D. B.; Cooper, E. C.; Cilio, M. R.; Taglialatela, M.; Sands, T. T.
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.
Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants
2021-01-01 Miceli, F.; Guerrini, R.; Nappi, M.; Soldovieri, M. V.; Cellini, E.; Gurnett, C. A.; Parmeggiani, L.; Mei, D.; 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
The long and winding road to personalized medicine in KCNMA1-linked channelopathies revealed by novel variants associated with the Liang-Wang syndrome
2022-01-01 Soldovieri, Maria Virginia; Taglialatela, Maurizio
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
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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| 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. | |
| 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 | |
| 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 | |
| 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 | |
| A novel homozygous KCNQ3 loss-of-function variant causes non-syndromic intellectual disability and neonatal-onset pharmacodependent epilepsy | 1-gen-2019 | Lauritano, A.; Moutton, S.; Longobardi, E.; Tran Mau-Them, F.; Laudati, G.; Nappi, P.; Soldovieri, M. V.; Ambrosino, P.; Cataldi, M.; Jouan, T.; Lehalle, D.; Maurey, H.; Philippe, C.; Miceli, F.; Vitobello, A.; Taglialatela, M. | |
| Autism and developmental disability caused by KCNQ3 gain-of-function variants | 1-gen-2019 | Sands, T. T.; Miceli, F.; Lesca, G.; Beck, A. E.; Sadleir, L. G.; Arrington, D. K.; Schonewolf-Greulich, B.; Moutton, S.; Lauritano, A.; Nappi, P.; Soldovieri, M. V.; Scheffer, I. E.; Mefford, H. C.; Stong, N.; Heinzen, E. L.; Goldstein, D. B.; Perez, A. G.; Kossoff, E. H.; Stocco, A.; Sullivan, J. A.; Shashi, V.; Gerard, B.; Francannet, C.; Bisgaard, A. -M.; Tumer, Z.; Willems, M.; Rivier, F.; Vitobello, A.; Thakkar, K.; Rajan, D. S.; Barkovich, A. J.; Weckhuysen, S.; Cooper, E. C.; Taglialatela, M.; Cilio, M. 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. | |
| Synthesis and Pharmacological Characterization of Conformationally Restricted Retigabine Analogues as Novel Neuronal Kv7 Channel Activators | 1-gen-2020 | Ostacolo, Carmine; Miceli, Francesco; Di Sarno, Veronica; Nappi, Piera; Iraci, Nunzio; Soldovieri, Maria Virginia; Ciaglia, Tania; Ambrosino, Paolo; Vestuto, Vincenzo; Lauritano, Anna; Musella, Simona; Pepe, Giacomo; Basilicata, Manuela Giovanna; Manfra, Michele; Perinelli, Diego Romano; Novellino, Ettore; Bertamino, Alessia; Gomez-Monterrey, Isabel M; Campiglia, Pietro; Taglialatela, Maurizio | |
| 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. | |
| Epileptic channelopathies caused by neuronal Kv7 (KCNQ) channel dysfunction | 1-gen-2020 | Nappi, P.; Miceli, F.; Soldovieri, M. V.; Ambrosino, P.; Barrese, V.; Taglialatela, M. | |
| A Novel Kv7.3 Variant in the Voltage-Sensing S4 Segment in a Family With Benign Neonatal Epilepsy: Functional Characterization and in vitro Rescue by β-Hydroxybutyrate | 1-gen-2020 | Miceli, F.; Carotenuto, L.; Barrese, V.; Soldovieri, M. V.; Heinzen, E. L.; Mandel, A. M.; Lippa, N.; Bier, L.; Goldstein, D. B.; Cooper, E. C.; Cilio, M. R.; Taglialatela, M.; Sands, T. T. | |
| 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. | |
| Distinct epilepsy phenotypes and response to drugs in KCNA1 gain- and loss-of function variants | 1-gen-2021 | Miceli, F.; Guerrini, R.; Nappi, M.; Soldovieri, M. V.; Cellini, E.; Gurnett, C. A.; Parmeggiani, L.; Mei, D.; 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 | |
| The long and winding road to personalized medicine in KCNMA1-linked channelopathies revealed by novel variants associated with the Liang-Wang syndrome | 1-gen-2022 | Soldovieri, Maria Virginia; Taglialatela, Maurizio | |
| 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 | |
| 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 |
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