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9 results on '"Musante, Ilaria"'

1. Novel tricyclic pyrrolo-quinolines as pharmacological correctors of the mutant CFTR chloride channel

Author

Renda, Mario, primary, Barreca, Marilia, additional, Borrelli, Anna, additional, Spanò, Virginia, additional, Montalbano, Alessandra, additional, Raimondi, Maria Valeria, additional, Bivacqua, Roberta, additional, Musante, Ilaria, additional, Scudieri, Paolo, additional, Guidone, Daniela, additional, Buccirossi, Martina, additional, Genovese, Michele, additional, Venturini, Arianna, additional, Bandiera, Tiziano, additional, Barraja, Paola, additional, and Galietta, Luis J. V., additional

Published
2023
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2. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Author

Borgia, Paola, primary, Baldassari, Simona, additional, Pedemonte, Nicoletta, additional, Alkhunaizi, Ebba, additional, D’Onofrio, Gianluca, additional, Tortora, Domenico, additional, Calì, Elisa, additional, Scudieri, Paolo, additional, Balagura, Ganna, additional, Musante, Ilaria, additional, Diana, Maria Cristina, additional, Pedemonte, Marina, additional, Vari, Maria Stella, additional, Iacomino, Michele, additional, Riva, Antonella, additional, Chimenz, Roberto, additional, Mangano, Giuseppe D., additional, Mohammadi, Mohammad Hasan, additional, Toosi, Mehran Beiraghi, additional, Ashrafzadeh, Farah, additional, Imannezhad, Shima, additional, Karimiani, Ehsan Ghayoor, additional, Accogli, Andrea, additional, Schiaffino, Maria Cristina, additional, Maghnie, Mohamad, additional, Soler, Miguel Angel, additional, Echiverri, Karl, additional, Abrams, Charles K., additional, Striano, Pasquale, additional, Fortuna, Sara, additional, Maroofian, Reza, additional, Houlden, Henry, additional, Zara, Federico, additional, Fiorillo, Chiara, additional, and Salpietro, Vincenzo, additional

Published
2022
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3. Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development

Author

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

Published
2022
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5. Assessment of copy number variations in 120 patients with Poland syndrome

Author

Vaccari, Carlotta Maria, primary, Tassano, Elisa, additional, Torre, Michele, additional, Gimelli, Stefania, additional, Divizia, Maria Teresa, additional, Romanini, Maria Victoria, additional, Bossi, Simone, additional, Musante, Ilaria, additional, Valle, Maura, additional, Senes, Filippo, additional, Catena, Nunzio, additional, Bedeschi, Maria Francesca, additional, Baban, Anwar, additional, Calevo, Maria Grazia, additional, Acquaviva, Massimo, additional, Lerone, Margherita, additional, Ravazzolo, Roberto, additional, and Puliti, Aldamaria, additional

Published
2016
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6. Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release

Author

Gorrieri, Giulia, primary, Scudieri, Paolo, additional, Caci, Emanuela, additional, Schiavon, Marco, additional, Tomati, Valeria, additional, Sirci, Francesco, additional, Napolitano, Francesco, additional, Carrella, Diego, additional, Gianotti, Ambra, additional, Musante, Ilaria, additional, Favia, Maria, additional, Casavola, Valeria, additional, Guerra, Lorenzo, additional, Rea, Federico, additional, Ravazzolo, Roberto, additional, Di Bernardo, Diego, additional, and Galietta, Luis J. V., additional

Published
2016
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8. Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Author

Paola Borgia, Simona Baldassari, Nicoletta Pedemonte, Ebba Alkhunaizi, Gianluca D’Onofrio, Domenico Tortora, Elisa Calì, Paolo Scudieri, Ganna Balagura, Ilaria Musante, Maria Cristina Diana, Marina Pedemonte, Maria Stella Vari, Michele Iacomino, Antonella Riva, Roberto Chimenz, Giuseppe D. Mangano, Mohammad Hasan Mohammadi, Mehran Beiraghi Toosi, Farah Ashrafzadeh, Shima Imannezhad, Ehsan Ghayoor Karimiani, Andrea Accogli, Maria Cristina Schiaffino, Mohamad Maghnie, Miguel Angel Soler, Karl Echiverri, Charles K. Abrams, Pasquale Striano, Sara Fortuna, Reza Maroofian, Henry Houlden, Federico Zara, Chiara Fiorillo, Vincenzo Salpietro, Borgia, Paola, Baldassari, Simona, Pedemonte, Nicoletta, Alkhunaizi, Ebba, D'Onofrio, Gianluca, Tortora, Domenico, Calì, Elisa, Scudieri, Paolo, Balagura, Ganna, Musante, Ilaria, Diana, Maria Cristina, Pedemonte, Marina, Vari, Maria Stella, Iacomino, Michele, Riva, Antonella, Chimenz, Roberto, Mangano, Giuseppe D, Mohammadi, Mohammad Hasan, Toosi, Mehran Beiraghi, Ashrafzadeh, Farah, Imannezhad, Shima, Karimiani, Ehsan Ghayoor, Accogli, Andrea, Schiaffino, Maria Cristina, Maghnie, Mohamad, Soler, Miguel Angel, Echiverri, Karl, Abrams, Charles K, Striano, Pasquale, Fortuna, Sara, Maroofian, Reza, Houlden, Henry, Zara, Federico, Fiorillo, Chiara, and Salpietro, Vincenzo

Subjects
Peroxisome biogenesis disorders, PEX13, mitochondrial dysfunction, Zellweger spectrum disorder, Genetic Association Studies, Humans, Membrane Proteins, Mutation, Peroxisomes, Zellweger Syndrome, Genetic Association Studie, General Medicine, Peroxisome, Peroxisome biogenesis disorder, Pharmacology (medical), Membrane Protein, Genetics (clinical), Human
Abstract

Background Pathogenic variants in PEX-genes can affect peroxisome assembly and function and cause Zellweger spectrum disorders (ZSDs), characterized by variable phenotypes in terms of disease severity, age of onset and clinical presentations. So far, defects in at least 15 PEX-genes have been implicated in Mendelian diseases, but in some of the ultra-rare ZSD subtypes genotype–phenotype correlations and disease mechanisms remain elusive. Methods We report five families carrying biallelic variants in PEX13. The identified variants were initially evaluated by using a combination of computational approaches. Immunofluorescence and complementation studies on patient-derived fibroblasts were performed in two patients to investigate the cellular impact of the identified mutations. Results Three out of five families carried a recurrent p.Arg294Trp non-synonymous variant. Individuals affected with PEX13-related ZSD presented heterogeneous clinical features, including hypotonia, developmental regression, hearing/vision impairment, progressive spasticity and brain leukodystrophy. Computational predictions highlighted the involvement of the Arg294 residue in PEX13 homodimerization, and the analysis of blind docking predicted that the p.Arg294Trp variant alters the formation of dimers, impairing the stability of the PEX13/PEX14 translocation module. Studies on muscle tissues and patient-derived fibroblasts revealed biochemical alterations of mitochondrial function and identified mislocalized mitochondria and a reduced number of peroxisomes with abnormal PEX13 concentration. Conclusions This study expands the phenotypic and mutational spectrum of PEX13-related ZSDs and also highlight a variety of disease mechanisms contributing to PEX13-related clinical phenotypes, including the emerging contribution of secondary mitochondrial dysfunction to the pathophysiology of ZSDs.

Published
2022
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9. Goblet Cell Hyperplasia Requires High Bicarbonate Transport To Support Mucin Release

Author

Valeria Tomati, Maria Favia, Diego Carrella, Valeria Casavola, Giulia Gorrieri, Diego di Bernardo, Ambra Gianotti, Francesco Sirci, Ilaria Musante, Luis J. V. Galietta, Lorenzo Guerra, Paolo Scudieri, Francesco Napolitano, Roberto Ravazzolo, Marco Schiavon, Federico Rea, Emanuela Caci, Gorrieri, Giulia, Scudieri, Paolo, Caci, Emanuela, Schiavon, Marco, Tomati, Valeria, Sirci, Francesco, Napolitano, Francesco, Carrella, Diego, Gianotti, Ambra, Musante, Ilaria, Favia, Maria, Casavola, Valeria, Guerra, Lorenzo, Rea, Federico, Ravazzolo, Roberto, DI BERNARDO, Diego, and Galietta, Luis J. V.

Subjects
0301 basic medicine, medicine.medical_specialty, Bicarbonate, chemistry.chemical_element, Calcium, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Chlorides, Internal medicine, medicine, Humans, Secretion, Cells, Cultured, Ion channel, Hyperplasia, Multidisciplinary, Gene Expression Profiling, Purinergic receptor, Mucin, Mucins, Bicarbonate transport, Hydrogen-Ion Concentration, Mucus, Cell biology, Bicarbonates, 030104 developmental biology, Endocrinology, chemistry, Cytokines, Goblet Cells, 030217 neurology & neurosurgery
Abstract

Goblet cell hyperplasia, a feature of asthma and other respiratory diseases, is driven by the Th-2 cytokines IL-4 and IL-13. In human bronchial epithelial cells, we find that IL-4 induces the expression of many genes coding for ion channels and transporters, including TMEM16A, SLC26A4, SLC12A2, and ATP12A. At the functional level, we find that IL-4 enhances calcium- and cAMP-activated chloride/bicarbonate secretion, resulting in high bicarbonate concentration and alkaline pH in the fluid covering the apical surface of epithelia. Importantly, mucin release, elicited by purinergic stimulation, requires the presence of bicarbonate in the basolateral solution and is defective in cells derived from cystic fibrosis patients. In conclusion, our results suggest that Th-2 cytokines induce a profound change in expression and function in multiple ion channels and transporters that results in enhanced bicarbonate transport ability. This change is required as an important mechanism to favor release and clearance of mucus.

Published
2016
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