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1. Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

Author

Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, and Cesare Danesino

Subjects
late-onset Pompe disease (LOPD), exonic variants, glycogen synthesis, glycogen catabolism, genotype–phenotype correlates, genetic modifiers, Biology (General), QH301-705.5
Abstract

Pompe disease (PD) is a monogenic autosomal recessive disorder caused by biallelic pathogenic variants of the GAA gene encoding lysosomal alpha-glucosidase; its loss causes glycogen storage in lysosomes, mainly in the muscular tissue. The genotype–phenotype correlation has been extensively discussed, and caution is recommended when interpreting the clinical significance of any mutation in a single patient. As there is no evidence that environmental factors can modulate the phenotype, the observed clinical variability in PD suggests that genetic variants other than pathogenic GAA mutations influence the mechanisms of muscle damage/repair and the overall clinical picture. Genes encoding proteins involved in glycogen synthesis and catabolism may represent excellent candidates as phenotypic modifiers of PD. The genes analyzed for glycogen synthesis included UGP2, glycogenin (GYG1-muscle, GYG2, and other tissues), glycogen synthase (GYS1-muscle and GYS2-liver), GBE1, EPM2A, NHLRC1, GSK3A, and GSK3B. The only enzyme involved in glycogen catabolism in lysosomes is α-glucosidase, which is encoded by GAA, while two cytoplasmic enzymes, phosphorylase (PYGB-brain, PGL-liver, and PYGM-muscle) and glycogen debranching (AGL) are needed to obtain glucose 1-phosphate or free glucose. Here, we report the potentially relevant variants in genes related to glycogen synthesis and catabolism, identified by whole exome sequencing in a group of 30 patients with late-onset Pompe disease (LOPD). In our exploratory analysis, we observed a reduced number of variants in the genes expressed in muscles versus the genes expressed in other tissues, but we did not find a single variant that strongly affected the phenotype. From our work, it also appears that the current clinical scores used in LOPD do not describe muscle impairment with enough qualitative/quantitative details to correlate it with genes that, even with a slightly reduced function due to genetic variants, impact the phenotype.

Published
2023
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2. Medical Professionalism—A Developmental View from the Trenches

Author

Semplicini, Andrea, Pegoraro, Renzo, Cooley, Dennis R., Series Editor, Weisstub, David N., Advisory Editor, Kimbrough Kushner, Thomasine, Founding Editor, Carney, Terry, Editorial Board Member, Düwell, Marcus, Editorial Board Member, Holm, Søren, Editorial Board Member, Kimsma, Gerrit, Editorial Board Member, Sulmasy, Daniel P., Editorial Board Member, Hodge, David Augustin, Editorial Board Member, Jones, Nora L., Editorial Board Member, Ćurković, Marko, editor, and Borovečki, Ana, editor

Published
2022
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3. Ablation of collagen VI leads to the release of platelets with altered function

Author

Abbonante, Vittorio, Gruppi, Cristian, Battiston, Monica, Zulian, Alessandra, Di Buduo, Christian Andrea, Chrisam, Martina, Sereni, Lucia, Laurent, Pierre-Alexandre, Semplicini, Claudio, Lombardi, Elisabetta, Mazzucato, Mario, Moccia, Francesco, Petronilli, Valeria, Villa, Anna, Bello, Luca, Pegoraro, Elena, Bernardi, Paolo, Braghetta, Paola, De Marco, Luigi, Bonaldo, Paolo, and Balduini, Alessandra

Published
2021
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5. Stroke management during the coronavirus disease 2019 (COVID-19) pandemic: experience from three regions of the north east of Italy (Veneto, Friuli-Venezia-Giulia, Trentino-Alto-Adige)

Author

Manganotti, Paolo, Naccarato, Marcello, Scali, Ilario, Cappellari, Manuel, Bonetti, Bruno, Burlina, Alessandro, Turinese, Emanuele, Bogo, Sabrina, Teatini, Francesco, Franchini, Enrica, Caneve, Giorgio, Ruzza, Giampietro, Gaudenzi, Anna, Bombardi, Roberto, Bozzato, Giulio, Padoan, Roberta, Gentile, Carolina, Rana, Michele, Turazzini, Michelangelo, Alessandra, Danese, Brigo, Francesco, Nardone, Raffaele, Quatrale, Rocco, Menegazzo, Elisabetta, Masato, Maela, Novello, Stefano, Passadore, Paolo, Baldi, Antonio, Valentinis, Luca, Baracchini, Claudio, Pieroni, Alessio, Basile, Anna Maria, Semplicini, Claudio, Piffer, Silvio, Giometto, Bruno, Tonello, Simone, Bonifatti, Domenico Marco, Lorenzut, Simone, Merlino, Giovanni, Valente, Maria Rosaria, Paladin, Francesco, Tonon, Agnese, de Luca, Cristina, Perini, Francesco, Centonze, Sandro, and Bovi, Paolo

Published
2021
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6. Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction

Author

Ilaria Gregorio, Maddalena Mereu, Gabriella Contarini, Luca Bello, Claudio Semplicini, Francesca Burgio, Loris Russo, Stefania Sut, Stefano Dall'Acqua, Paola Braghetta, Carlo Semenza, Elena Pegoraro, Francesco Papaleo, Paolo Bonaldo, and Matilde Cescon

Subjects
collagen vi, mouse model, central nervous system, dopamine, prefrontal cortex, cognitive function, Medicine, Pathology, RB1-214
Published
2022
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8. European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A)

Author

Barp, Andrea, Laforet, Pascal, Bello, Luca, Tasca, Giorgio, Vissing, John, Monforte, Mauro, Ricci, Enzo, Choumert, Ariane, Stojkovic, Tanya, Malfatti, Edoardo, Pegoraro, Elena, Semplicini, Claudio, Stramare, Roberto, Scheidegger, Olivier, Haberlova, Jana, Straub, Volker, Marini-Bettolo, Chiara, Løkken, Nicoline, Diaz-Manera, Jordi, Urtizberea, Jon A., Mercuri, Eugenio, Kynčl, Martin, Walter, Maggie C., and Carlier, Robert Y.

Published
2020
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9. Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group

Author

Filosto, Massimiliano, Cotti Piccinelli, Stefano, Ravaglia, Sabrina, Servidei, Serenella, Moggio, Maurizio, Musumeci, Olimpia, Donati, Maria Alice, Pegoraro, Elena, Di Muzio, Antonio, Maggi, Lorenzo, Tonin, Paola, Marrosu, Gianni, Sancricca, Cristina, Lerario, Alberto, Sacchini, Michele, Semplicini, Claudio, Bozzoni, Virginia, Telese, Roberta, Bonanno, Silvia, Piras, Rachele, Maioli, Maria Antonietta, Ricci, Giulia, Vercelli, Liliana, Galvagni, Anna, Gallo Cassarino, Serena, Caria, Filomena, Mongini, Tiziana, Siciliano, Gabriele, Padovani, Alessandro, and Toscano, Antonio

Published
2019
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10. In-hospital percentage BNP reduction is highly predictive for adverse events in patients admitted for acute heart failure: the Italian RED Study

Author

Di Somma, Salvatore, Magrini, Laura, Pittoni, Valerio, Marino, Rossella, Mastrantuono, Antonella, Ferri, Enrico, Ballarino, Paola, Semplicini, Andrea, Bertazzoni, Giuliano, Carpinteri, Giuseppe, Mulè, Paolo, Pazzaglia, Maria, Shah, Kevin, Maisel, Alan, and Clopton, Paul

Abstract

Abstract Introduction Our aim was to evaluate the role of B-type natriuretic peptide (BNP) percentage variations at 24 hours and at discharge compared to its value at admission in order to demonstrate its predictive value for outcomes in patients with acute decompensated heart failure (ADHF). Methods This was a multicenter Italian (8 centers) observational study (Italian Research Emergency Department: RED). 287 patients with ADHF were studied through physical exams, lab tests, chest X Ray, electrocardiograms (ECGs) and BNP measurements, performed at admission, at 24 hours, and at discharge. Follow up was performed 180 days after hospital discharge. Logistic regression analysis was used to estimate odds ratios (OR) for the various subgroups created. For all comparisons, a P value < 0.05 was considered statistically significant. Results BNP median (interquartile range (IQR)) value at admission was 822 (412 - 1390) pg\mL; at 24 hours was 593 (270 - 1953) and at discharge was 325 (160 - 725). A BNP reduction of >46% at discharge had an area under curve (AUC) of 0.70 (P < 0.001) for predicting future adverse events. There were 78 events through follow up and in 58 of these patients the BNP level at discharge was >300 pg/mL. A BNP reduction of 25.9% after 24 hours had an AUC at ROC curve of 0.64 for predicting adverse events (P < 0.001). The odds ratio of the patients whose BNP level at discharge was 46% was 4.775 (95% confidence interval (CI) 1.76 - 12.83, P < 0.002). The odds ratio of the patients whose BNP level at discharge was >300 pg/mL and whose percentage decrease at discharge was 46% was 9.614 (CI 4.51 - 20.47, P < 0.001). Conclusions A reduction of BNP >46% at hospital discharge compared to the admission levels coupled with a BNP absolute value < 300 pg/mL seems to be a very powerful negative prognostic value for future cardiovascular outcomes in patients hospitalized with ADHF.

Published
2010

13. Assessment of disease progression in dysferlinopathy: A 1-year cohort study

Author

Moore, Ursula, Jacobs, Marni, James, Meredith K., Mayhew, Anna G., Fernandez-Torron, Roberto, Feng, Jia, Cnaan, Avital, Eagle, Michelle, Bettinson, Karen, Rufibach, Laura E., Lofra, Robert Muni, Blamire, Andrew M., Carlier, Pierre G., Mittal, Plavi, Lowes, Linda Pax, Alfano, Lindsay, Rose, Kristy, Duong, Tina, Berry, Katherine M., Montiel-Morillo, Elena, Pedrosa-Hernández, Irene, Holsten, Scott, Sanjak, Mohammed, Ashida, Ai, Sakamoto, Chikako, Tateishi, Takayuki, Yajima, Hiroyuki, Canal, Aurélie, Ollivier, Gwenn, Decostre, Valerie, Mendez, Juan Bosco, Sánchez-Aguilera Praxedes, Nieves, Thiele, Simone, Siener, Catherine, Shierbecker, Jeanine, Florence, Julaine M., Vandevelde, Bruno, DeWolf, Brittney, Hutchence, Meghan, Gee, Richard, Prügel, Juliana, Maron, Elke, Hilsden, Heather, Lochmüller, Hanns, Grieben, Ulrike, Spuler, Simone, Tesi Rocha, Carolina, Day, John W., Jones, Kristi J., Bharucha-Goebel, Diana X., Salort-Campana, Emmanuelle, Harms, Matthew, Pestronk, Alan, Krause, Sabine, Schreiber-Katz, Olivia, Walter, Maggie C., Paradas, Carmen, Hogrel, Jean-Yves, Stojkovic, Tanya, Takeda, Shinʼichi, Mori-Yoshimura, Madoka, Bravver, Elena, Sparks, Susan, Díaz-Manera, Jordi, Bello, Luca, Semplicini, Claudio, Pegoraro, Elena, Mendell, Jerry R., Bushby, Kate, and Straub, Volker

Published
2019
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21. Prevalence and Determinants of the Use of Lipid-Lowering Agents in a Population of Older Hospitalized Patients: the Findings from the REPOSI (REgistro POliterapie Società Italiana di Medicina Interna) Study

Author

Bertolotti, Marco, Franchi, Carlotta, Rocchi, Marco B. L., Miceli, Andrea, Libbra, M. Vittoria, Nobili, Alessandro, Lancellotti, Giulia, Carulli, Lucia, Mussi, Chiara, Mannucci, Pier Mannuccio, Nobili, Alessandro, Tettamanti, Mauro, Pasina, Luca, Franchi, Carlotta, Perticone, Francesco, Salerno, Francesco, Corrao, Salvatore, Marengoni, Alessandra, Licata, Giuseppe, Violi, Francesco, Corazza, Gino Roberto, Marcucci, Maura, Eldin, Tarek Kamal, Di Blanca, Maria Pia Donatella, Lanzo, Giovanna, Astuto, Sarah, Tettamanti, Mauro, Ardoino, Ilaria, Cortesi, Laura, Prisco, Domenico, Silvestri, Elena, Cenci, Caterina, Emmi, Giacomo, Biolo, Gianni, Guarnieri, Gianfranco, Zanetti, Michela, Fernandes, Giovanni, Chiuch, Massimiliano, Vanoli, Massimo, Grignani, Giulia, Casella, Gianluca, Pulixi, Edoardo Alessandro, Bernardi, Mauro, Bassi, Silvia Li, Santi, Luca, Zaccherini, Giacomo, Mannarino, Elmo, Lupattelli, Graziana, Bianconi, Vanessa, Paciullo, Francesco, Nuti, Ranuccio, Valenti, Roberto, Ruvio, Martina, Cappelli, Silvia, Palazzuoli, Alberto, Salvatore, Teresa, Sasso, Ferdinando Carlo, Girelli, Domenico, Olivieri, Oliviero, Matteazzi, Thomas, Barbagallo, Mario, Plances, Lidia, Alcamo, Roberta, Licata, Giuseppe, Calvo, Luigi, Valenti, Maria, Pasini, Franco Laghi, Capecchi, Pier Leopoldo, Bicchi, Maurizio, Palasciano, Giuseppe, Modeo, Maria Ester, Peragine, Maria, Pappagallo, Fabrizio, Pugliese, Stefania, Di Gennaro, Carla, Postiglione, Alfredo, Barbella, Maria Rosaria, De Stefano, Francesco, Cappellini, Maria Domenica, Fabio, Giovanna, Seghezzi, Sonia, De Amicis, Margherita Migone, Mancarella, Marta, Mari, Daniela, Rossi, Paolo Dionigi, Damanti, Sarah, Ottolini, Barbara Brignolo, Bonini, Giulia, Corazza, Gino Roberto, Miceli, Emanuela, Lenti, Marco Vincenzo, Padula, Donatella, Murialdo, Giovanni, Marra, Alessio, Cattaneo, Federico, Secchi, Maria Beatrice, Ghelfi, Davide, Anastasio, Luigi, Sofia, Lucia, Carbone, Maria, Davì, Giovanni, Guagnano, Maria Teresa, Sestili, Simona, Mancuso, Gerardo, Calipari, Daniela, Bartone, Mosè, Meroni, Maria Rachele, Perin, Paolo Cavallo, Lorenzati, Bartolomeo, Gruden, Gabriella, Bruno, Graziella, Amione, Cristina, Fornengo, Paolo, Tassara, Rodolfo, Melis, Deborah, Rebella, Lara, Delitala, Giuseppe, Pretti, Vincenzo, Masala, Maristella Salvatora, Pes, Chiara, Bolondi, Luigi, Rasciti, Leonardo, Serio, Ilaria, Fanelli, Filippo Rossi, Amoroso, Antonio, Molfino, Alessio, Petrillo, Enrico, Zuccalà, Giuseppe, Franceschi, Francesco, De Marco, Guido, Chiara, Cordischi, Marta, Sabbatini, D’Aurizio, Gabriella, Romanelli, Giuseppe, Amolini, Claudia, Chiesa, Deborah, Marengoni, Alessandra, Picardi, Antonio, Gentilucci, Umberto Vespasiani, Gallo, Paolo, Annoni, Giorgio, Corsi, Maurizio, Zazzetta, Sara, Bellelli, Giuseppe, Szabo, Hajnalka, Arturi, Franco, Succurro, Elena, Rubino, Mariangela, Sesti, Giorgio, Loria, Paola, Becchi, Maria Angela, Martucci, Gianfranco, Fantuzzi, Alessandra, Maurantonio, Mauro, Serra, Maria Grazia, Bleve, Maria Antonietta, Gasbarrone, Laura, Sajeva, Maria Rosaria, Brucato, Antonio, Ghidoni, Silvia, Di Corato, Paola, Agnelli, Giancarlo, Marchesini, Emanuela, Fabris, Fabrizio, Carlon, Michela, Turatto, Francesca, Baritusso, Aldo, Turatto, Francesca, Amabile, Annalisa, Omenetto, Elisabetta, Scarinzi, Paolo, Manfredini, Roberto, Molino, Christian, Pala, Marco, Fabbian, Fabio, Boari, Benedetta, De Giorgi, Alfredo, Paolisso, Giuseppe, Rizzo, Maria Rosaria, Laieta, Maria Teresa, Rini, Giovanbattista, Mansueto, Pasquale, Pepe, Ilenia, Borghi, Claudio, Strocchi, Enrico, De Sando, Valeria, Pareo, Ilaria, Sabbà, Carlo, Vella, Francesco Saverio, Suppressa, Patrizia, Valerio, Raffaella, Agosti, Pasquale, Fontana, Flavia, Loparco, Francesca, Pugliese, Stefania, Capobianco, Caterina, Fenoglio, Luigi, Bracco, Christian, Giraudo, Alessia Valentina, Testa, Elisa, Serraino, Cristina, Fargion, Silvia, Bonara, Paola, Periti, Giulia, Porzio, Marianna, Tiraboschi, Slivia, Peyvandi, Flora, Tedeschi, Alberto, Rossio, Raffaella, Ferrari, Barbara, Monzani, Valter, Savojardo, Valeria, Folli, Christian, Salerno, Maria Magnini Francesco, Conca, Alessio, Gobbo, Giulia, Conca, Alessio, Pallini, Giada, Valenti, Miriam, Balduini, Carlo L., Bertolino, Giampiera, Provini, Stella, Quaglia, Federica, Dallegri, Franco, Ottonello, Luciano, Liberale, Luca, Chin, Wu Sheng, Carassale, Laura, Caporotundo, Silvia, Traisci, Giancarlo, De Feudis, Lucrezia, Di Carlo, Silvia, Liberato, Nicola Lucio, Buratti, Alberto, Tognin, Tiziana, Bianchi, Giovanni Battista, Giaquinto, Sabrina, Purrello, Francesco, Di Pino, Antonino, Piro, Salvatore, Rozzini, Renzo, Falanga, Lina, Spazzini, Elena, Montrucchio, Giuseppe, Greco, Elisabetta, Tizzani, Pietro, Petitti, Paolo, Perciccante, Antonio, Coralli, Alessia, Salmi, Raffaella, Gaudenzi, Piergiorgio, Gamberini, Susanna, Semplicini, Andrea, Gottardo, Lucia, Vendemiale, Gianluigi, Serviddio, Gaetano, Forlano, Roberta, Masala, Cesare, Mammarella, Antonio, Raparelli, Valeria, Violi, Francesco, Basili, Stefania, Perri, Ludovica, Landolfi, Raffaele, Montalto, Massimo, Mirijello, Antonio, Vallone, Carla, Bellusci, Martino, Setti, Donatella, Pedrazzoli, Filippo, Guasti, Luigina, Castiglioni, Luana, Maresca, Andrea, Squizzato, Alessandro, Molaro, Marta, Bertolotti, Marco, Mussi, Chiara, Libbra, Maria Vittoria, Miceli, Andrea, Pellegrini, Elisa, Carulli, Lucia, Veltri, Francesca, Perticone, Francesco, Sciacqua, Angela, Quero, Michele, Bagnato, Chiara, Colangelo, Lidia, Falbo, Tania, De Giorgio, Roberto, Serra, Mauro, Grasso, Valentina, Ruggeri, Eugenio, Ilaria, Benzoni, Salvi, Andrea, Leonardi, Roberto, Grassini, Chiara, Mascherona, Ilenia, Minelli, Giorgio, Maltese, Francesca, Damiani, Giampaolo, Capeci, William, Mattioli, Massimo, Martino, Giuseppe Pio, Biondi, Lorenzo, Ormas, Monica, Pettinari, Pietro, Romiti, Roberto, Corrao, Salvatore, Messina, Silvia, Cavallaro, Federica, Ghio, Riccardi, Favorini, Serena, Col, Anna Dal, Minisola, Salvatore, Colangelo, Luciano, Afeltra, Antonella, Alemanno, Pamela, Marigliano, Benedetta, Pipita, Maria Elena, Castellino, Pietro, Blanco, Julien, Zanoli, Luca, Cattaneo, Marco, Fracasso, Paola, Amoruso, Maria Valentina, Saracco, Valter, Fogliati, Marisa, Bussolino, Carlo, Durante, Vittorio, Eusebi, Giovanna, Tirotta, Daniela, Mete, Francesca, Gino, Miriam, Cittadini, Antonio, Vigorito, Carlo, Arcopinto, Michele, Salzano, Andrea, Bobbio, Emanuele, Marra, Alberto Maria, Sirico, Domenico, Moreo, Guido, Scopelliti, Francesco, Gasparini, Francesca, Cocca, Melissa, Ballestrero, Alberto, Ferrando, Fabio, Berra, Sergio, Dassi, Simonetta, Nava, Maria Cristina, Graziella, Bruno, Ghidoni, Silvia, Amione, Cristina, Baldassarre, Stefano, Fragapani, Salvatore, Gruden, Gabriella, Galanti, Giorgio, Mascherini, Gabriele, Petri, Cristian, Stefani, Laura, Girino, Margherita, Piccinelli, Valeria, Nasso, Francesco, Gioffrè, Vincenza, Pasquale, Maria, Scattolin, Giuseppe, Martinelli, Sergio, Turrin, Mauro, Sechi, Leonardo, Catena, Cristina, Colussi, Gianluca, Nieves, Ramirez Duque, Alberto, Muela Molinero, Pedro, Abad Requejo, Vanessa, Lopez Pelaez, Lara, Tamargo, Xavier, Corbella Viros, Francesc, Formiga, Jesus, Diez Manglano, Esperanza, Bejarano Tello, Esther, Del Corral Behamonte, Maria, Sevil Puras, Romero, Manuel, Blanca, Pinilla Llorente, Cristina, Lopez Gonzalez-Cobos, Victoria, Villalba Garcia M., Saez, Lopez, Bosco, Juan, Susana, Sanz Baena, Marta, Arroyo Gallego, Concepcion, Gonzalez Becerra, Antonio, Fernandez Moyano, Hernandez, Mercedes Gomez, Borrego, Manuel Poyato, Raquel, Pacheco Cuadros, Florencia, Perez Rojas, Beatriz, Garcia Olid, Sara, Carrascosa Garcia, Alfonso, Gonzalez-Cruz Cervellera, Marta, Peinado Martinez, Garcia, Sara Carrascosa, Alberto, Ruiz Cantero, Antonio, Albarracín Arraigosa, Montserrat, Godoy Guerrero, Ángel, Barón Ramos Miguel, Manuel, Machin Jose, Ignacio, Novo Veleiro, Lucía, Alvela Suarez, Alfonso, Lopez, David, Rubal Bran, Iria, Iñiguez Vazquez, Monica, Rios Prego, and On behalf of REPOSI Investigators

Published
2017
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33. Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction

Author

Gregorio, Ilaria, primary, Mereu, Maddalena, additional, Contarini, Gabriella, additional, Bello, Luca, additional, Semplicini, Claudio, additional, Burgio, Francesca, additional, Russo, Loris, additional, Sut, Stefania, additional, Dall'Acqua, Stefano, additional, Braghetta, Paola, additional, Semenza, Carlo, additional, Pegoraro, Elena, additional, Papaleo, Francesco, additional, Bonaldo, Paolo, additional, and Cescon, Matilde, additional

Published
2022
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34. The clinical spectrum of CASQ1-related myopathy

Author

Semplicini, Claudio, Bertolin, Cinzia, Bello, Luca, Pantic, Boris, Guidolin, Francesca, Vianello, Sara, Catapano, Francesco, Colombo, Irene, Moggio, Maurizio, Gavassini, Bruno F., Cenacchi, Giovanna, Papa, Valentina, Previtero, Marco, Calore, Chiara, Sorarù, Gianni, Minervini, Giovanni, Tosatto, Silvio C.E., Stramare, Roberto, and Pegoraro, Elena

Published
2018
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35. MRI in sarcoglycanopathies: a large international cohort study

Author

Tasca, Giorgio, Monforte, Mauro, Díaz-Manera, Jordi, Brisca, Giacomo, Semplicini, Claudio, D’Amico, Adele, Fattori, Fabiana, Pichiecchio, Anna, Berardinelli, Angela, Maggi, Lorenzo, Maccagnano, Elio, Løkken, Nicoline, Marini-Bettolo, Chiara, Munell, Francina, Sanchez, Angel, Alshaikh, Nahla, Voermans, Nicol C, Dastgir, Jahannaz, Vlodavets, Dmitry, Haberlová, Jana, Magnano, Gianmichele, Walter, Maggie C, Quijano-Roy, Susana, Carlier, Robert-Yves, van Engelen, Baziel G M, Vissing, John, Straub, Volker, Bönnemann, Carsten G, Mercuri, Eugenio, Muntoni, Francesco, Pegoraro, Elena, Bertini, Enrico, Udd, Bjarne, Ricci, Enzo, and Bruno, Claudio

Published
2018
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41. Critical issues in the relationships between patient relatives and hospital staff: qualitative research based on focus group

Author

Beatrice Cecchini, Valeria Del Longo, Emanuela Grandesso, Alessandro Gamba, and Andrea Semplicini

Subjects
caregiver, focus group, frailty., Medicine
Abstract

In Italy the number of elderly patients is increasing and often a family member, also called primary caregiver (CG), assists them. The aim of this study is to describe the peculiar relationships between the family primary CG and the hospital staff, when an elderly patient is admitted to hospital, to demonstrate how this may affect his/her clinical management during the hospital stay and formulate new research projects and organizational rearrangements.

Published
2014
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42. Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis

Author

Abbonante, Vittorio, primary, Malara, Alessandro, additional, Chrisam, Martina, additional, Metti, Samuele, additional, Soprano, Paolo, additional, Semplicini, Claudio, additional, Bello, Luca, additional, Bozzi, Valeria, additional, Battiston, Monica, additional, Pecci, Alessandro, additional, Pegoraro, Elena, additional, De Marco, Luigi, additional, Braghetta, Paola, additional, Bonaldo, Paolo, additional, and Balduini, Alessandra, additional

Published
2022
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45. Lack of COL6/collagen VI causes megakaryocyte dysfunction by impairing autophagy and inducing apoptosis.

Author

Abbonante, Vittorio, Malara, Alessandro, Chrisam, Martina, Metti, Samuele, Soprano, Paolo, Semplicini, Claudio, Bello, Luca, Bozzi, Valeria, Battiston, Monica, Pecci, Alessandro, Pegoraro, Elena, De Marco, Luigi, Braghetta, Paola, Bonaldo, Paolo, and Balduini, Alessandra

Subjects
GREEN fluorescent protein, HEAT shock proteins, UNFOLDED protein response, CALCIUM channels, MOLECULAR chaperones, ENDOPLASMIC reticulum, PEPTIDASE, B cells, LYSOSOMES
Abstract

Endoplasmic reticulum stress is an emerging significant player in the molecular pathology of connective tissue disorders. In response to endoplasmic reticulum stress, cells can upregulate macroautophagy/autophagy, a fundamental cellular homeostatic process used by cells to degrade and recycle proteins or remove damaged organelles. In these scenarios, autophagy activation can support cell survival. Here we demonstrated by in vitro and in vivo approaches that megakaryocytes derived from col6a1−⁄− (collagen, type VI, alpha 1) null mice display increased intracellular retention of COL6 polypeptides, endoplasmic reticulum stress and apoptosis. The unfolded protein response is activated in col6a1−⁄− megakaryocytes, as evidenced by the upregulation of molecular chaperones, by the increased splicing of Xbp1 mRNA and by the higher level of the pro-apoptotic regulator DDIT3/CHOP. Despite the endoplasmic reticulum stress, basal autophagy is impaired in col6a1−⁄− megakaryocytes, which show lower BECN1 levels and reduced autophagosome maturation. Starvation and rapamycin treatment rescue the autophagic flux in col6a1−⁄− megakaryocytes, leading to a decrease in intracellular COL6 polypeptide retention, endoplasmic reticulum stress and apoptosis. Furthermore, megakaryocytes cultured from peripheral blood hematopoietic progenitors of patients affected by Bethlem myopathy and Ullrich congenital muscular dystrophy, two COL6-related disorders, displayed increased apoptosis, endoplasmic reticulum stress and impaired autophagy. These data demonstrate that genetic disorders of collagens, endoplasmic reticulum stress and autophagy regulation in megakaryocytes may be interrelated. Abbreviations: 7-AAD: 7-amino-actinomycin D; ATF: activating transcriptional factor; BAX: BCL2 associated X protein; BCL2: B cell leukemia/lymphoma 2; BCL2L1/Bcl-xL: BCL2-like 1; BM: bone marrow; COL6: collagen, type VI; col6a1−⁄−: mice that are null for Col6a1; DDIT3/CHOP/GADD153: DNA-damage inducible transcript 3; EGFP: enhanced green fluorescent protein; ER: endoplasmic reticulum; reticulophagy: endoplasmic reticulum-selective autophagy; HSPA5/Bip: heat shock protein 5; HSP90B1/GRP94: heat shock protein 90, beta (Grp94), member 1; LAMP2: lysosomal associated membrane protein 2; MAP1LC3B/LC3B: microtubule-associated protein 1 light chain 3 beta; Mk: megakaryocytes; MTOR: mechanistic target of rapamycin kinase; NIMV: noninvasive mechanical ventilation; PI3K: phosphoinositide 3-kinase; PPP1R15A/GADD34: protein phosphatase 1, regulatory subunit 15A; RT-qPCR: reverse transcription-quantitative real-time PCR; ROS: reactive oxygen species; SERPINH1/HSP47: serine (or cysteine) peptidase inhibitor, clade H, member 1; sh-RNA: short hairpin RNA; SOCE: store operated calcium entry; UCMD: Ullrich congenital muscular dystrophy; UPR: unfolded protein response; WIPI2: WD repeat domain, phosphoinositide-interacting 2; WT: wild type; XBP1: X-box binding protein 1. [ABSTRACT FROM AUTHOR]

Published
2023
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