Human iPSC-Derived Astrocytes: A Powerful Tool to Study Primary Astrocyte Dysfunction in the Pathogenesis of Rare Leukodystrophies

por Lanciotti, Angela, Brignone, Maria Stefania, Macioce, Pompeo, Visentin, Sergio, Ambrosini, Elena
Publicado 2021

MLC1 protein: a likely link between leukodystrophies and brain channelopathies

por Brignone, Maria S., Lanciotti, Angela, Camerini, Serena, De Nuccio, Chiara, Petrucci, Tamara C., Visentin, Sergio, Ambrosini, Elena
Publicado 2015

Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astr...

por Lanciotti, Angela, Brignone, Maria Stefania, Belfiore, Marcello, Columba-Cabezas, Sandra, Mallozzi, Cinzia, Vincentini, Olimpia, Molinari, Paola, Petrucci, Tamara Corinna, Visentin, Sergio, Ambrosini, Elena
Publicado 2020

Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: Relevance to MLC disease pathogenesis

por Brignone, Maria S., Lanciotti, Angela, Visentin, Sergio, De Nuccio, Chiara, Molinari, Paola, Camerini, Serena, Diociaiuti, Marco, Petrini, Stefania, Minnone, Gaetana, Crescenzi, Marco, Laudiero, Luisa Bracci, Bertini, Enrico, Petrucci, Tamara C., Ambrosini, Elena
Publicado 2014

The CaMKII/MLC1 Axis Confers Ca(2+)-Dependence to Volume-Regulated Anion Channels (VRAC) in Astrocytes

por Brignone, Maria Stefania, Lanciotti, Angela, Michelucci, Antonio, Mallozzi, Cinzia, Camerini, Serena, Catacuzzeno, Luigi, Sforna, Luigi, Caramia, Martino, D’Adamo, Maria Cristina, Ceccarini, Marina, Molinari, Paola, Macioce, Pompeo, Macchia, Gianfranco, Petrucci, Tamara Corinna, Pessia, Mauro, Visentin, Sergio, Ambrosini, Elena
Publicado 2022

Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy

por Sicca, Federico, Ambrosini, Elena, Marchese, Maria, Sforna, Luigi, Servettini, Ilenio, Valvo, Giulia, Brignone, Maria Stefania, Lanciotti, Angela, Moro, Francesca, Grottesi, Alessandro, Catacuzzeno, Luigi, Baldini, Sara, Hasan, Sonia, D’Adamo, Maria Cristina, Franciolini, Fabio, Molinari, Paola, Santorelli, Filippo M., Pessia, Mauro
Publicado 2016

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype

por Ambrosini, Elena, Sicca, Federico, Brignone, Maria S., D'Adamo, Maria C., 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 M., Priori, Silvia, Pessia, Mauro
Publicado 2014