Browsing by Subject Potassium channels

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Issue DateTitleAuthor(s)
2015Animal models of episodic ataxia type 1 (EA1)D'Adamo, Maria Cristina; Di Giovanni, Giuseppe; Pessia, Mauro
2020The application of Xenopus laevis oocytes expression system to investigate the mechanisms underlying intellectual disability in a patient carrying A Kv7.3 mutationSchembri, Amber
2011Autism with seizures and intellectual disability : possible causative role of gain-of-function of the inwardly-rectifying K + channel Kir4.1Sicca, Federico; Imbrici, Paola; D'Adamo, Maria Cristina; Moro, Francesca; Bonatti, Fabrizia; Brovedani, Paola; Grottesi, Alessandro; Guerrini, Renzo; Masi, Gabriele; Santorelli, Filippo Maria; Pessia, Mauro
2009Contributions of the central hydrophobic residue in the PXP motif of voltage-dependent K+ channels to S6 flexibility and gating propertiesImbrici, Paola; Grottesi, Alessandro; D'Adamo, Maria Cristina; Tucker, Stephen J.; Pessia, Mauro
2001Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1Pessia, Mauro; Imbrici, Paola; D'Adamo, Maria Cristina; Salvatore, Lorena; Tucker, Stephen J.
2012Dysfunction of voltage-gated K + Channels Kv1.1 in sciatic nerve causes spontaneous and stress-induced neuromuscular hyperexcitabilityBrunetti, 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
2011The emerging role of the inwardly rectifying K+ channels in autism spectrum disorders and epilepsyD’Adamo, Maria Cristina; Moro, Francesca; Imbrici, Paola; Martino, Dianda; Roscini, Mauro; Santorelli, Filippo Maria; Sicca, Federico; Pessia, Mauro
2007Episodic ataxia type 1 mutation F184C alters Zn2+-induced modulation of the human K+ channel Kv1.4-Kv1.1/Kvβ1.1Imbrici, Paola; D'Adamo, Maria Cristina; Cusimano, Antonella; Pessia, Mauro
2011Episodic ataxia type 1 mutations affect fast inactivation of K + channels by a reduction in either subunit surface expression or affinity for inactivation domainImbrici, Paola; D'Adamo, Maria Cristina; Grottesi, Alessandro; Biscarini, Andrea; Pessia, Mauro
2006Episodic 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/Kvβ1.2Imbrici, Paola; D'Adamo, Maria Cristina; Kullmann, Dimitri M.; Pessia, Mauro
2004An episodic ataxia type-1 mutation in the S1 segment sensitises the hKv1.1 potassium channel to extracellular Zn2+Cusimano, Antonella; D'Adamo, Maria Cristina; Pessia, Mauro
1998Episodic ataxia type-1 mutations in the hKv1.1 cytoplasmic pore region alter the gating properties of the channelD'Adamo, Maria Cristina; Liu, Zhaoping; Adelman, John P.; Maylie, James G.; Pessia, Mauro
2003Functional characterization of an episodic ataxia type-1 mutation occurring in the S1 segment of hKv1.1 channelsImbrici, Paola; Cusimano, Antonella; D'Adamo, Maria Cristina; Curtis, Amalia de; Pessia, Mauro
2014Genetically induced dysfunctions of Kir2.1 channels : implications for short QT3 syndrome and autism-epilepsy phenotypeAmbrosini, Elena; Sicca, Federico; Brignone, Maria Stefania; D'Adamo, Maria Cristina; Napolitano, Carlo; Servettini, Ilenio; Moro, Francesca; Ruan, Yanfei; Guglielmi, Luca; Pieroni, Stefania; Servillo, Giuseppe; Lanciotti, Angela; Valvo, Giulia; Catacuzzeno, Luigi; Franciolini, Fabio; Molinari, Paola; Marchese, Maria; Grottesi, Alessandro; Guerrini, Renzo; Santorelli, Filippo Maria; Priori, Silvia Giuliana; Pessia, Mauro
2003Identification of a heteromeric interaction that influences the rectification, gating, and pH sensitivity of Kir4.1/Kir5.1 potassium channelsCasamassima, Maria; D'Adamo, Maria Cristina; Pessia, Mauro; Tucker, Stephen J.
2013K+ channelepsy : progress in the neurobiology of potassium channels and epilepsyD'Adamo, Maria Cristina; Catacuzzeno, Luigi; Di Giovanni, Giuseppe; Franciolini, Fabio; Pessia, Mauro
2016KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disabilityKaya, Namik; Alsagob, Maysoon; D'Adamo, Maria Cristina; Al-Bakheet, Albandary Bandary; Hasan, Sonia M.; Muccioli, Maria; Almutairi, Faten B.; Almass, Rawan; Aldosary, Mazhor S.; Monies, Dorota Marta; Mustafa, Osama M.; Alyounes, Banan; Kenana, Rosan; Al-Zahrani, Jawaher; Naim, Ewa A.; Binhumaid, Faisal S.; Qari, Alya A.; Almutairi, Fatema; Meyer, Brian Francis; Plageman, Timothy F.; Pessia, Mauro; Colak, Dilek; Al-Owain, Mohammed A.
2011The Kir5.1 potassium channel is an important determinant of neuronal PCO2/pH sensitivityD'Adamo, Maria Cristina; Shang, Lijun; Imbrici, Paola; Brown, Steve D. M.; Pessia, Mauro; Tucker, Stephen J.
2012Kv1.1 knock-in ataxic mice exhibit spontaneous myokymic activity exacerbated by fatigue, ischemia and low temperatureBrunetti, 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
2017Lethal digenic mutations in the K+ 1 channels Kir4.1 (KCNJ10) and SLACK 2 (KCNT1) associated with severe-disabling seizures and neurodevelopmental delayHasan, Sonia M.; Balobaid, Ameera; Grottesi, Alessandro; Dabbagh, Omar; Cenciarini, Marta; Rawashdeh, Rifaat; Al-Sagheir, Afaf; Bove, Cecilia; Macchioni, Lara; Pessia, Mauro; Al-Owain, Mohammed A.; D'Adamo, Maria Cristina