Tackling Dysfunction of Mitochondrial Bioenergetics in the Brain

por Zanfardino, Paola, Doccini, Stefano, Santorelli, Filippo M., Petruzzella, Vittoria
Publicado 2021

Short-Term Effects of Human versus Bovine Sialylated Milk Oligosaccharide Microinjection on Zebrafish Larvae Survival, Locomotor Behavior and Gene Expression

por Licitra, Rosario, Naef, Valentina, Marchese, Maria, Damiani, Devid, Ogi, Asahi, Doccini, Stefano, Fronte, Baldassare, Yan, Jingyu, Santorelli, Filippo M.
Publicado 2023

Functional Transcriptome Analysis in ARSACS KO Cell Model Reveals a Role of Sacsin in Autophagy

por Morani, Federica, Doccini, Stefano, Sirica, Roberto, Paterno, Marta, Pezzini, Francesco, Ricca, Ivana, Simonati, Alessandro, Delledonne, Massimo, Santorelli, Filippo Maria
Publicado 2019

Development of Nanostructured Lipid Carriers for the Delivery of Idebenone in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

por Martinelli, Chiara, Battaglini, Matteo, Pucci, Carlotta, Gioi, Sara, Caracci, Chiara, Macaluso, Gaia, Doccini, Stefano, Santorelli, Filippo M., Ciofani, Gianni
Publicado 2020

Integrative Organelle-Based Functional Proteomics: In Silico Prediction of Impaired Functional Annotations in SACS KO Cell Model

por Morani, Federica, Doccini, Stefano, Galatolo, Daniele, Pezzini, Francesco, Soliymani, Rabah, Simonati, Alessandro, Lalowski, Maciej M., Gemignani, Federica, Santorelli, Filippo M.
Publicado 2022

Integrative analysis of differentially expressed genes and miRNAs predicts complex T3-mediated protective circuits in a rat model of cardiac ischemia reperfusion

por Forini, Francesca, Nicolini, Giuseppina, Kusmic, Claudia, D’Aurizio, Romina, Rizzo, Milena, Baumgart, Mario, Groth, Marco, Doccini, Stefano, Iervasi, Giorgio, Pitto, Letizia
Publicado 2018

Tumor Suppressor Role of hsa-miR-193a-3p and -5p in Cutaneous Melanoma

por Polini, Beatrice, Carpi, Sara, Doccini, Stefano, Citi, Valentina, Martelli, Alma, Feola, Sara, Santorelli, Filippo Maria, Cerullo, Vincenzo, Romanini, Antonella, Nieri, Paola
Publicado 2020

Electrophysiological Profile Remodeling via Selective Suppression of Voltage-Gated Currents by CLN1/PPT1 Overexpression in Human Neuronal-Like Cells

por Demontis, Gian Carlo, Pezzini, Francesco, Margari, Elisa, Bianchi, Marzia, Longoni, Biancamaria, Doccini, Stefano, Lalowski, Maciej Maurycy, Santorelli, Filippo Maria, Simonati, Alessandro
Publicado 2020

Functional Network Profiles in ARSACS Disclosed by Aptamer-Based Proteomic Technology

por Morani, Federica, Doccini, Stefano, Chiorino, Giovanna, Fattori, Fabiana, Galatolo, Daniele, Sciarrillo, Elisa, Gemignani, Federica, Züchner, Stephan, Bertini, Enrico Silvio, Santorelli, Filippo Maria
Publicado 2021

Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction

por Berti, Beatrice, Longo, Giovanna, Mari, Francesco, Doccini, Stefano, Piccolo, Ilaria, Donati, Maria Alice, Moro, Francesca, Guerrini, Renzo, Santorelli, Filippo M., Petruzzella, Vittoria
Publicado 2021

Converging Role for REEP1/SPG31 in Oxidative Stress

por Naef, Valentina, Meschini, Maria C., Tessa, Alessandra, Morani, Federica, Corsinovi, Debora, Ogi, Asahi, Marchese, Maria, Ori, Michela, Santorelli, Filippo M., Doccini, Stefano
Publicado 2023

Expanding the clinical and genetic heterogeneity of SPAX5

por Dosi, Claudia, Galatolo, Daniele, Rubegni, Anna, Doccini, Stefano, Pasquariello, Rosa, Nesti, Claudia, Sicca, Federico, Barghigiani, Melissa, Battini, Roberta, Tessa, Alessandra, Santorelli, Filippo M.
Publicado 2020

Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study

por Calderoni, Sara, Ricca, Ivana, Balboni, Giulia, Cagiano, Romina, Cassandrini, Denise, Doccini, Stefano, Cosenza, Angela, Tolomeo, Deborah, Tancredi, Raffaella, Santorelli, Filippo Maria, Muratori, Filippo
Publicado 2020

Efficient Neuroprotective Rescue of Sacsin-Related Disease Phenotypes in Zebrafish

por Naef, Valentina, Marchese, Maria, Ogi, Asahi, Fichi, Gianluca, Galatolo, Daniele, Licitra, Rosario, Doccini, Stefano, Verri, Tiziano, Argenton, Francesco, Morani, Federica, Santorelli, Filippo M.
Publicado 2021

The Networks of Genes Encoding Palmitoylated Proteins in Axonal and Synaptic Compartments Are Affected in PPT1 Overexpressing Neuronal-Like Cells

por Pezzini, Francesco, Bianchi, Marzia, Benfatto, Salvatore, Griggio, Francesca, Doccini, Stefano, Carrozzo, Rosalba, Dapkunas, Arvydas, Delledonne, Massimo, Santorelli, Filippo M., Lalowski, Maciej M., Simonati, Alessandro
Publicado 2017

Tanshinone IIA and Cryptotanshinone Counteract Inflammation by Regulating Gene and miRNA Expression in Human SGBS Adipocytes

por Carpi, Sara, Quarta, Stefano, Doccini, Stefano, Saviano, Anella, Marigliano, Noemi, Polini, Beatrice, Massaro, Marika, Carluccio, Maria Annunziata, Calabriso, Nadia, Wabitsch, Martin, Santorelli, Filippo Maria, Cecchini, Marco, Maione, Francesco, Nieri, Paola, Scoditti, Egeria
Publicado 2023

Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction

por Doccini, Stefano, Morani, Federica, Nesti, Claudia, Pezzini, Francesco, Calza, Giulio, Soliymani, Rabah, Signore, Giovanni, Rocchiccioli, Silvia, Kanninen, Katja M., Huuskonen, Mikko T., Baumann, Marc H., Simonati, Alessandro, Lalowski, Maciej M., Santorelli, Filippo M.
Publicado 2020

Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease

por Doccini, Stefano, Marchese, Maria, Morani, Federica, Gammaldi, Nicola, Mero, Serena, Pezzini, Francesco, Soliymani, Rabah, Santi, Melissa, Signore, Giovanni, Ogi, Asahi, Rocchiccioli, Silvia, Kanninen, Katja M., Simonati, Alessandro, Lalowski, Maciej M., Santorelli, Filippo M.
Publicado 2022

The Extra-Virgin Olive Oil Polyphenols Oleocanthal and Oleacein Counteract Inflammation-Related Gene and miRNA Expression in Adipocytes by Attenuating NF-κB Activation

por Carpi, Sara, Scoditti, Egeria, Massaro, Marika, Polini, Beatrice, Manera, Clementina, Digiacomo, Maria, Esposito Salsano, Jasmine, Poli, Giulio, Tuccinardi, Tiziano, Doccini, Stefano, Santorelli, Filippo Maria, Carluccio, Maria Annunziata, Macchia, Marco, Wabitsch, Martin, De Caterina, Raffaele, Nieri, Paola
Publicado 2019

The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study

por Tolomeo, Deborah, Orsucci, Daniele, Nesti, Claudia, Baldacci, Jacopo, Battini, Roberta, Bruno, Claudio, Bruno, Giorgia, Cassandrini, Denise, Doccini, Stefano, Donati, M. Alice, Ferrari, Annarita, Fiori, Simona, Fiorillo, Chiara, Guerrini, Renzo, Mari, Francesco, Montomoli, Martino, Pochiero, Francesca, Procopio, Elena, Ruggiero, Lucia, Sampaolo, Simone, Sicca, Federico, Ticci, Chiara, Rubegni, Anna, Santorelli, Filippo M.
Publicado 2021