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1.

De novo variants in DENND5B cause a neurodevelopmental disorder.

Scala, Marcello; Tomati, Valeria; Ferla, Matteo; Lena, Mariateresa; Cohen, Julie S; Fatemi, Ali; Brokamp, Elly; Bican, Anna; Phillips, John A; Koziura, Mary E; Nicouleau, Michael; Rio, Marlene; Siquier, Karine; Boddaert, Nathalie; Musante, Ilaria; Tamburro, Serena; Baldassari, Simona; Iacomino, Michele; Scudieri, Paolo; Rosenfeld, Jill A; Bellus, Gary; Reed, Sara; Al Saif, Hind; Russo, Rossana Sanchez; Walsh, Matthew B; Cantagrel, Vincent; Crunk, Amy; Gustincich, Stefano; Ruggiero, Sarah M; Fitzgerald, Mark P; Helbig, Ingo; Striano, Pasquale; Severino, Mariasavina; Salpietro, Vincenzo; Pedemonte, Nicoletta; Zara, Federico.

Am J Hum Genet; 111(3): 529-543, 2024 Mar 07.

Artículo en Inglés | MEDLINE | ID: mdl-38387458

2.

Light-responsive microRNA miR-211 targets Ezrin to modulate lysosomal biogenesis and retinal cell clearance.

Naso, Federica; Intartaglia, Daniela; Falanga, Danila; Soldati, Chiara; Polishchuk, Elena; Giamundo, Giuliana; Tiberi, Paola; Marrocco, Elena; Scudieri, Paolo; Di Malta, Chiara; Trapani, Ivana; Nusco, Edoardo; Salierno, Francesco Giuseppe; Surace, Enrico Maria; Galietta, Luis Jv; Banfi, Sandro; Auricchio, Alberto; Ballabio, Andrea; Medina, Diego Luis; Conte, Ivan.

EMBO J; 39(8): e102468, 2020 04 15.

Artículo en Inglés | MEDLINE | ID: mdl-32154600

3.

Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.

Accogli, Andrea; Lu, Shenzhao; Musante, Ilaria; Scudieri, Paolo; Rosenfeld, Jill A; Severino, Mariasavina; Baldassari, Simona; Iacomino, Michele; Riva, Antonella; Balagura, Ganna; Piccolo, Gianluca; Minetti, Carlo; Roberto, Denis; Xia, Fan; Razak, Razaali; Lawrence, Emily; Hussein, Mohamed; Chang, Emmanuel Yih-Herng; Holick, Michelle; Calì, Elisa; Aliberto, Emanuela; De-Sarro, Rosalba; Gambardella, Antonio; Network, Undiagnosed Diseases; Group, SYNaPS Study; Emrick, Lisa; McCaffery, Peter J A; Clagett-Dame, Margaret; Marcogliese, Paul C; Bellen, Hugo J; Lalani, Seema R; Zara, Federico; Striano, Pasquale; Salpietro, Vincenzo.

Cerebellum; 22(2): 206-222, 2023 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-35218524

4.

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

Scala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C; Wessels, Marja W; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margherita; Balagura, Ganna; Galloni, Giovanni Battista; Verrotti, Alberto; Umair, Muhammad; Khan, Amjad; Liebelt, Jan; Schmidts, Miriam; Langer, Thorsten; Brusco, Alfredo; Lipska-Zietkiewicz, Beata S; Saris, Jasper J; Charlet-Berguerand, Nicolas; Zara, Federico; Striano, Pasquale; Piton, Amélie.

Hum Mutat; 43(9): 1299-1313, 2022 09.

Artículo en Inglés | MEDLINE | ID: mdl-35607920

5.

KCa3.1 differentially regulates trachea and bronchi epithelial gene expression in a chronic-asthma mouse model.

Philp, Amber R; Miranda, Fernando; Gianotti, Ambra; Mansilla, Agustín; Scudieri, Paolo; Musante, Ilaria; Vega, Génesis; Figueroa, Carlos D; Galietta, Luis J V; Sarmiento, José M; Flores, Carlos A.

Physiol Genomics; 54(7): 273-282, 2022 07 01.

Artículo en Inglés | MEDLINE | ID: mdl-35658672

6.

Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons.

Baldassari, Simona; Cervetto, Chiara; Amato, Sarah; Fruscione, Floriana; Balagura, Ganna; Pelassa, Simone; Musante, Ilaria; Iacomino, Michele; Traverso, Monica; Corradi, Anna; Scudieri, Paolo; Maura, Guido; Marcoli, Manuela; Zara, Federico.

Int J Mol Sci; 23(18)2022 Sep 11.

Artículo en Inglés | MEDLINE | ID: mdl-36142455

7.

Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene.

Venturini, Arianna; Borrelli, Anna; Musante, Ilaria; Scudieri, Paolo; Capurro, Valeria; Renda, Mario; Pedemonte, Nicoletta; Galietta, Luis J V.

Int J Mol Sci; 22(21)2021 Nov 04.

Artículo en Inglés | MEDLINE | ID: mdl-34769402

8.

The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan-Deficient Muscular Dystrophy.

Gazzerro, Elisabetta; Baratto, Serena; Assereto, Stefania; Baldassari, Simona; Panicucci, Chiara; Raffaghello, Lizzia; Scudieri, Paolo; De Battista, Davide; Fiorillo, Chiara; Volpi, Stefano; Chaabane, Linda; Malnati, Mauro; Messina, Graziella; Bruzzone, Santina; Traggiai, Elisabetta; Grassi, Fabio; Minetti, Carlo; Bruno, Claudio.

Am J Pathol; 189(2): 354-369, 2019 02.

Artículo en Inglés | MEDLINE | ID: mdl-30448410

9.

Two CFTR mutations within codon 970 differently impact on the chloride channel functionality.

Amato, Felice; Scudieri, Paolo; Musante, Ilaria; Tomati, Valeria; Caci, Emanuela; Comegna, Marika; Maietta, Sabrina; Manzoni, Francesca; Di Lullo, Antonella Miriam; De Wachter, Elke; Vanderhelst, Eef; Terlizzi, Vito; Braggion, Cesare; Castaldo, Giuseppe; Galietta, Luis J V.

Hum Mutat; 40(6): 742-748, 2019 06.

Artículo en Inglés | MEDLINE | ID: mdl-30851139

10.

TRPV4 and purinergic receptor signalling pathways are separately linked in airway epithelia to CFTR and TMEM16A chloride channels.

Genovese, Michele; Borrelli, Anna; Venturini, Arianna; Guidone, Daniela; Caci, Emanuela; Viscido, Gaetano; Gambardella, Gennaro; di Bernardo, Diego; Scudieri, Paolo; Galietta, Luis J V.

J Physiol; 597(24): 5859-5878, 2019 12.

Artículo en Inglés | MEDLINE | ID: mdl-31622498

11.

High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel.

Tomati, Valeria; Pesce, Emanuela; Caci, Emanuela; Sondo, Elvira; Scudieri, Paolo; Marini, Monica; Amato, Felice; Castaldo, Giuseppe; Ravazzolo, Roberto; Galietta, Luis J V; Pedemonte, Nicoletta.

J Biol Chem; 293(4): 1203-1217, 2018 01 26.

Artículo en Inglés | MEDLINE | ID: mdl-29158263

12.

Peripheral localization of the epithelial sodium channel in the apical membrane of bronchial epithelial cells.

Musante, Ilaria; Scudieri, Paolo; Venturini, Arianna; Guidone, Daniela; Caci, Emanuela; Castellani, Stefano; Conese, Massimo; Galietta, Luis J V.

Exp Physiol; 104(6): 866-875, 2019 06.

Artículo en Inglés | MEDLINE | ID: mdl-30924990

13.

Take a big sip and shrink it with ASOR.

Scudieri, Paolo; Pusch, Michael.

Pflugers Arch; 474(11): 1121-1122, 2022 Nov.

Artículo en Inglés | MEDLINE | ID: mdl-36171315

14.

The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy.

Assereto, Stefania; Piccirillo, Rosanna; Baratto, Serena; Scudieri, Paolo; Fiorillo, Chiara; Massacesi, Manuela; Traverso, Monica; Galietta, Luis J; Bruno, Claudio; Minetti, Carlo; Zara, Federico; Gazzerro, Elisabetta.

Lab Invest; 96(8): 862-71, 2016 08.

Artículo en Inglés | MEDLINE | ID: mdl-27295345

15.

Role of ANO4 in regulation of aldosterone secretion in the zona glomerulosa of the human adrenal gland.

Maniero, Carmela; Zhou, Junhua; Shaikh, Lalarukh H; Azizan, Elena A B; McFarlane, Ian; Neogi, Sudeshna; Scudieri, Paolo; Galietta, Louis J; Brown, Morris J.

Lancet; 385 Suppl 1: S62, 2015 Feb 26.

Artículo en Inglés | MEDLINE | ID: mdl-26312884

16.

Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms.

Scudieri, Paolo; Caci, Emanuela; Venturini, Arianna; Sondo, Elvira; Pianigiani, Giulia; Marchetti, Carla; Ravazzolo, Roberto; Pagani, Franco; Galietta, Luis J V.

J Physiol; 593(17): 3829-48, 2015 Sep 01.

Artículo en Inglés | MEDLINE | ID: mdl-26108457

17.

Non-canonical translation start sites in the TMEM16A chloride channel.

Sondo, Elvira; Scudieri, Paolo; Tomati, Valeria; Caci, Emanuela; Mazzone, Amelia; Farrugia, Gianrico; Ravazzolo, Roberto; Galietta, Luis J V.

Biochim Biophys Acta; 1838(1 Pt B): 89-97, 2014 Jan.

Artículo en Inglés | MEDLINE | ID: mdl-23994600

18.

TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels.

Scudieri, Paolo; Sondo, Elvira; Caci, Emanuela; Ravazzolo, Roberto; Galietta, Luis J V.

Biochem J; 452(3): 443-55, 2013 Jun 15.

Artículo en Inglés | MEDLINE | ID: mdl-23570556

19.

Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations.

Gorrieri, Giulia; Tamburro, Serena; Baldassari, Simona; Guerrisi, Sara; Zara, Federico; Ricci, Emilia; Maria Cordelli, Duccio; Scudieri, Paolo; Musante, Ilaria.

Stem Cell Res; 76: 103333, 2024 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-38350246

20.

Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.

Iacomino, Michele; Houerbi, Nadia; Fortuna, Sara; Howe, Jennifer; Li, Shan; Scorrano, Giovanna; Riva, Antonella; Cheng, Kai-Wen; Steiman, Mandy; Peltekova, Iskra; Yusuf, Afiqah; Baldassari, Simona; Tamburro, Serena; Scudieri, Paolo; Musante, Ilaria; Di Ludovico, Armando; Guerrisi, Sara; Balagura, Ganna; Corsello, Antonio; Efthymiou, Stephanie; Murphy, David; Uva, Paolo; Verrotti, Alberto; Fiorillo, Chiara; Delvecchio, Maurizio; Accogli, Andrea; Elsabbagh, Mayada; Houlden, Henry; Scherer, Stephen W; Striano, Pasquale; Zara, Federico; Chou, Tsui-Fen; Salpietro, Vincenzo.

Front Mol Neurosci; 17: 1268013, 2024.

Artículo en Inglés | MEDLINE | ID: mdl-38650658

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