Showing results 1 to 20 of 21
next >
| Issue Date | Title | Author(s) |
| 2023 | An activator of voltage-gated K+ channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1 | Servettini, Ilenio; Talani, Giuseppe; Megaro, Alfredo; Setzu, Maria Dolores; Biggio, Francesca; Briffa, Michelle; Guglielmi, Luca; Savalli, Nicoletta; Binda, Francesca; Delicata, Francis; Bru–Mercier, Gilles; Vassallo, Neville; Maglione, Vittorio; Cauchi, Ruben J.; Di Pardo, Alba; Colluc, Maria; Imbrici, Paola; Catacuzzeno, Luigi; D’Adamo, Maria Cristina; Olcese, Riccardo; Pessia, Mauro |
| 2011 | Autism with seizures and intellectual disability : possible causative role of gain-of-function of the inwardly-rectifying K + channel Kir4.1 | Sicca, Federico; Imbrici, Paola; D'Adamo, Maria Cristina; Moro, Francesca; Bonatti, Fabrizia; Brovedani, Paola; Grottesi, Alessandro; Guerrini, Renzo; Masi, Gabriele; Santorelli, Filippo Maria; Pessia, Mauro |
| 2009 | Contributions of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels to S6 flexibility and gating properties | Imbrici, Paola; Grottesi, Alessandro; D'Adamo, Maria Cristina; Tucker, Stephen J.; Pessia, Mauro |
| 2001 | Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1 | Pessia, Mauro; Imbrici, Paola; D'Adamo, Maria Cristina; Salvatore, Lorena; Tucker, Stephen J. |
| 2012 | Dysfunction of voltage-gated K + Channels Kv1.1 in sciatic nerve causes spontaneous and stress-induced neuromuscular hyperexcitability | Brunetti, Orazio; Imbrici, Paola; Botti, Fabio Massimo; Pettorossi, Vito Enrico; D’Adamo, Maria Cristina; Valentino, Mario; Zammit, Christian; Mora, Marina; Di Giovanni, Giuseppe; Muscat, Richard; Pessia, Mauro |
| 2020 | Electromechanical coupling of the Kv1.1 voltage-gated K+ channel is fine-tuned by the simplest amino acid residue in the S4-S5 linker | Hasan, Sonia; Megaro, Alfredo; Cenciarini, Marta; Coretti, Lorena; Botti, Fabio Massimo; Imbrici, Paola; Steinbusch, Harry W. M.; Hunter, Therese; Hunter, Gary J.; Pessia, Mauro; D’Adamo, Maria Cristina |
| 2011 | The emerging role of the inwardly rectifying K+ channels in autism spectrum disorders and epilepsy | D’Adamo, Maria Cristina; Moro, Francesca; Imbrici, Paola; Martino, Dianda; Roscini, Mauro; Santorelli, Filippo Maria; Sicca, Federico; Pessia, Mauro |
| 2007 | Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvβ1.1 | Imbrici, Paola; D'Adamo, Maria Cristina; Cusimano, Antonella; Pessia, Mauro |
| 2011 | Episodic ataxia type 1 mutations affect fast inactivation of K + channels by a reduction in either subunit surface expression or affinity for inactivation domain | Imbrici, Paola; D'Adamo, Maria Cristina; Grottesi, Alessandro; Biscarini, Andrea; Pessia, Mauro |
| 2006 | Episodic ataxia type 1 mutations in the KCNA1 gene impair the fast inactivation properties of the human potassium channels Kv1.4-1.1/Kvβ1.1 and Kv1.4-1.1/Kvβ1.2 | Imbrici, Paola; D'Adamo, Maria Cristina; Kullmann, Dimitri M.; Pessia, Mauro |
| 2007 | Functional characterisation of a novel mutation causing episodic ataxia type 1 occurring in the KCNA1 gene | Imbrici, Paola; Gualandi, Francesca; D'Adamo, Maria Cristina; Cudia, Paola; De Grandis, Domenico; Ferlini, Alessandra; Pessia, Mauro |
| 2003 | Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channels | Imbrici, Paola; Cusimano, Antonella; D'Adamo, Maria Cristina; Curtis, Amalia de; Pessia, Mauro |
| 2011 | Genetic inactivation of Kcnj16 identifies Kir5.1 as an important determinant of neuronal PCO2/pH sensitivity | D'Adamo, Maria Cristina; Shang, Lijun; Imbrici, Paola; Brown, Steve D. M.; Pessia, Mauro; Tucker, Stephen J. |
| 2011 | The Kir5.1 potassium channel is an important determinant of neuronal PCO2/pH sensitivity | D'Adamo, Maria Cristina; Shang, Lijun; Imbrici, Paola; Brown, Steve D. M.; Pessia, Mauro; Tucker, Stephen J. |
| 2012 | Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperature | Brunetti, Orazio; Imbrici, Paola; Botti, Fabio Massimo; Pettorossi, Vito Enrico; D'Adamo, Maria Cristina; Valentino, Mario; Zammit, Christian; Mora, Marina; Gibertini, Sara; Di Giovanni, Giuseppe; Muscat, Richard; Pessia, Mauro |
| 1999 | Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K+ channel function | D'Adamo, Maria Cristina; Imbrici, Paola; Sponcichetti, Fabio; Pessia, Mauro |
| 2008 | A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1 | Imbrici, Paola; Gualandi, Francesca; D'Adamo, Maria Cristina; Masieri, Marina Taddei; Cudia, Paola; De Grandis, Domenico; Mannucci, Roberta; Nicoletti, Ildo; Tucker, Stephen J.; Ferlini, Alessandra; Pessia, Mauro |
| 2017 | A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions | Imbrici, Paola; Altamura, Concetta; Gualandi, Francesca; Felice Mangiatordi, Giuseppe; Neri, Marcella; De Maria, Giovanni; Ferlini, Alessandra; Padovani, Alessandro; D'Adamo, Maria Cristina; Nicolotti, Orazio; Pessia, Mauro; Conte, Diana; Filosto, Massimiliano; Desaphy, Jean-Francois |
| 2015 | Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene | D'Adamo, Maria Cristina; Gallenmuller, Constanze; Servettini, Ilenio; Hartl, Elisabeth; Tucker, Stephen J.; Arning, Larissa; Biskup, Saskia; Grottesi, Alessandro; Guglielmi, Luca; Imbrici, Paola; Bernasconi, Pia; Di Giovanni, Giuseppe; Franciolini, Fabio; Catacuzzeno, Luigi; Pessia, Mauro; Klopstock, Thomas |
| 2000 | pH dependence of the inwardly rectifying potassium channel, Kir5.1, and localization in renal tubular epithelia | Tucker, Stephen J.; Imbrici, Paola; Salvatore, Lorena; D'Adamo, Maria Cristina; Pessia, Mauro |
