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Your search keyword '"Russo, Silvia"' showing total 8 results
Start Over Author "Russo, Silvia" Journal international journal of molecular sciences
8 results on '"Russo, Silvia"'

1. Modeling RTT Syndrome by iPSC-Derived Neurons from Male and Female Patients with Heterogeneously Severe Hot-Spot MECP2 Variants

Author

Perego, Sara, primary, Alari, Valentina, additional, Pietra, Gianluca, additional, Lamperti, Andrea, additional, Vimercati, Alessandro, additional, Camporeale, Nicole, additional, Garzo, Maria, additional, Cogliati, Francesca, additional, Milani, Donatella, additional, Vignoli, Aglaia, additional, Peron, Angela, additional, Larizza, Lidia, additional, Pizzorusso, Tommaso, additional, and Russo, Silvia, additional

Published
2022
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2. Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

Author

Bestetti, Ilaria, primary, Crippa, Milena, additional, Sironi, Alessandra, additional, Tumiatti, Francesca, additional, Masciadri, Maura, additional, Smeland, Marie Falkenberg, additional, Naik, Swati, additional, Murch, Oliver, additional, Bonati, Maria Teresa, additional, Spano, Alice, additional, Cattaneo, Elisa, additional, Mariani, Milena, additional, Gotta, Fabio, additional, Crosti, Francesca, additional, Cavalli, Pietro, additional, Pantaleoni, Chiara, additional, Natacci, Federica, additional, Bedeschi, Maria Francesca, additional, Milani, Donatella, additional, Maitz, Silvia, additional, Selicorni, Angelo, additional, Spaccini, Luigina, additional, Peron, Angela, additional, Russo, Silvia, additional, Larizza, Lidia, additional, Low, Karen, additional, and Finelli, Palma, additional

Published
2022
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3. Histone Deacetylase Inhibitors Ameliorate Morphological Defects and Hypoexcitability of iPSC-Neurons from Rubinstein-Taybi Patients

Author

Alari, Valentina, primary, Scalmani, Paolo, additional, Ajmone, Paola Francesca, additional, Perego, Sara, additional, Avignone, Sabrina, additional, Catusi, Ilaria, additional, Lonati, Paola Adele, additional, Borghi, Maria Orietta, additional, Finelli, Palma, additional, Terragni, Benedetta, additional, Mantegazza, Massimo, additional, Russo, Silvia, additional, and Larizza, Lidia, additional

Published
2021
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6. Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes

Author

Cogliati, Francesca, primary, Giorgini, Valentina, additional, Masciadri, Maura, additional, Bonati, Maria Teresa, additional, Marchi, Margherita, additional, Cracco, Irene, additional, Gentilini, Davide, additional, Peron, Angela, additional, Savini, Miriam Nella, additional, Spaccini, Luigina, additional, Scelsa, Barbara, additional, Maitz, Silvia, additional, Veneselli, Edvige, additional, Prato, Giulia, additional, Pintaudi, Maria, additional, Moroni, Isabella, additional, Vignoli, Aglaia, additional, Larizza, Lidia, additional, and Russo, Silvia, additional

Published
2019
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8. Mitochondrial Dynamics of Proximal Tubular Epithelial Cells in Nephropathic Cystinosis.

Author

De Rasmo, Domenico, Signorile, Anna, De Leo, Ester, Polishchuk, Elena V., Ferretta, Anna, Raso, Roberto, Russo, Silvia, Polishchuk, Roman, Emma, Francesco, and Bellomo, Francesco

Subjects
EPITHELIAL cells, FANCONI syndrome, LYSOSOMAL storage diseases, UBIQUITINATION, MITOFUSIN 2, LYSOSOMES
Abstract

Nephropathic cystinosis is a rare lysosomal storage disorder caused by mutations in CTNS gene leading to Fanconi syndrome. Independent studies reported defective clearance of damaged mitochondria and mitochondrial fragmentation in cystinosis. Proteins involved in the mitochondrial dynamics and the mitochondrial ultrastructure were analyzed in CTNS−/− cells treated with cysteamine, the only drug currently used in the therapy for cystinosis but ineffective to treat Fanconi syndrome. CTNS−/− cells showed an overexpression of parkin associated with deregulation of ubiquitination of mitofusin 2 and fission 1 proteins, an altered proteolytic processing of optic atrophy 1 (OPA1), and a decreased OPA1 oligomerization. According to molecular findings, the analysis of electron microscopy images showed a decrease of mitochondrial cristae number and an increase of cristae lumen and cristae junction width. Cysteamine treatment restored the fission 1 ubiquitination, the mitochondrial size, number and lumen of cristae, but had no effect on cristae junction width, making CTNS−/− tubular cells more susceptible to apoptotic stimuli. [ABSTRACT FROM AUTHOR]

Published
2020
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