Search Results - "Rizzuti, Mafalda"

Therapeutic applications of the cell-penetrating HIV-1 Tat peptide by Rizzuti, Mafalda, Nizzardo, Monica, Zanetta, Chiara, Ramirez, Agnese, Corti, Stefania

“…•Cell-penetrating peptides (CPPs) as a potential strategy to deliver drugs.•Biology, classification and mechanisms of internalization of CPPs.•HIV-derived Tat…”
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MicroRNA Metabolism and Dysregulation in Amyotrophic Lateral Sclerosis by Rinchetti, Paola, Rizzuti, Mafalda, Faravelli, Irene, Corti, Stefania

“…MicroRNAs (miRNAs) are a subset of endogenous, small, non-coding RNA molecules involved in the post-transcriptional regulation of eukaryotic gene expression…”
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MicroRNA expression analysis identifies a subset of downregulated miRNAs in ALS motor neuron progenitors by Rizzuti, Mafalda, Filosa, Giuseppe, Melzi, Valentina, Calandriello, Luca, Dioni, Laura, Bollati, Valentina, Bresolin, Nereo, Comi, Giacomo Pietro, Barabino, Silvia, Nizzardo, Monica, Corti, Stefania

“…Amyotrophic lateral sclerosis (ALS) is a fatal neurological disorder that is characterized by a progressive degeneration of motor neurons (MNs). The…”
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Mutations in DNA2 Link Progressive Myopathy to Mitochondrial DNA Instability by Ronchi, Dario, Di Fonzo, Alessio, Lin, Weiqiang, Bordoni, Andreina, Liu, Changwei, Fassone, Elisa, Pagliarani, Serena, Rizzuti, Mafalda, Zheng, Li, Filosto, Massimiliano, Ferrò, Maria Teresa, Ranieri, Michela, Magri, Francesca, Peverelli, Lorenzo, Li, Hongzhi, Yuan, Yate-Ching, Corti, Stefania, Sciacco, Monica, Moggio, Maurizio, Bresolin, Nereo, Shen, Binghui, Comi, Giacomo Pietro

“…Syndromes associated with multiple mtDNA deletions are due to different molecular defects that can result in a wide spectrum of predominantly adult-onset…”
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Investigation of New Morpholino Oligomers to Increase Survival Motor Neuron Protein Levels in Spinal Muscular Atrophy by Ramirez, Agnese, Crisafulli, Sebastiano G, Rizzuti, Mafalda, Bresolin, Nereo, Comi, Giacomo P, Corti, Stefania, Nizzardo, Monica

“…Spinal muscular atrophy (SMA) is an autosomal-recessive childhood motor neuron disease and the main genetic cause of infant mortality. SMA is caused by…”
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Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report by Ronchi, Dario, Cosi, Alessandra, Tonduti, Davide, Orcesi, Simona, Bordoni, Andreina, Fortunato, Francesco, Rizzuti, Mafalda, Sciacco, Monica, Collotta, Martina, Cagdas, Sophie, Capovilla, Giuseppe, Moggio, Maurizio, Berardinelli, Angela, Veggiotti, Pierangelo, Comi, Giacomo P

“…Leigh Syndrome (LS) is a severe neurodegenerative disorder characterized by bilateral symmetrical necrotic lesions in the basal ganglia and brainstem. Onset is…”
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Charcot–Marie‐Tooth type 2A in vivo models: Current updates by Abati, Elena, Rizzuti, Mafalda, Anastasia, Alessia, Comi, Giacomo Pietro, Corti, Stefania, Rizzo, Federica

“…Charcot–Marie‐Tooth type 2A (CMT2A) is an inherited sensorimotor neuropathy associated with mutations within the Mitofusin 2 (MFN2) gene. These mutations…”
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SARS-CoV-2 infection and Spike protein exposure alter iPSC-derived human brain organoid homeostasis by Cappelletti, Gioia, Brambilla, Lorenzo, Melzi, Valentina, Rizzuti, Mafalda, Nizzardo, Monica, Trabattoni, Daria, Corti, Stefania, Clerici, Mario, Biasin, Mara

“…Abstract COVID-19 typically causes respiratory disorders, but several COVID-19 patients (30–60%) manifest also a wide range of neurological conditions,…”
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Cell-penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model by Bersani, Margherita, Rizzuti, Mafalda, Pagliari, Elisa, Garbellini, Manuela, Saccomanno, Domenica, Moulton, Hong M., Bresolin, Nereo, Comi, Giacomo P., Corti, Stefania, Nizzardo, Monica

“…Spinal muscular atrophy (SMA) is a motor neuron disease and the leading genetic cause of infant mortality. Recently approved SMA therapies have transformed a…”
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Insights into the identification of a molecular signature for amyotrophic lateral sclerosis exploiting integrated microRNA profiling of iPSC-derived motor neurons and exosomes by Rizzuti, Mafalda, Melzi, Valentina, Gagliardi, Delia, Resnati, Davide, Meneri, Megi, Dioni, Laura, Masrori, Pegah, Hersmus, Nicole, Poesen, Koen, Locatelli, Martina, Biella, Fabio, Silipigni, Rosamaria, Bollati, Valentina, Bresolin, Nereo, Comi, Giacomo Pietro, Van Damme, Philip, Nizzardo, Monica, Corti, Stefania

“…Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disorder characterized by progressive degeneration of motor neurons (MNs). Most cases are…”
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Shaping the Neurovascular Unit Exploiting Human Brain Organoids by Rizzuti, Mafalda, Melzi, Valentina, Brambilla, Lorenzo, Quetti, Lorenzo, Sali, Luca, Ottoboni, Linda, Meneri, Megi, Ratti, Antonia, Verde, Federico, Ticozzi, Nicola, Comi, Giacomo Pietro, Corti, Stefania, Abati, Elena

“…Brain organoids, three-dimensional cell structures derived from pluripotent stem cells, closely mimic key aspects of the human brain in vitro , providing a…”
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miR-129-5p: A key factor and therapeutic target in amyotrophic lateral sclerosis by Loffreda, Alessia, Nizzardo, Monica, Arosio, Alessandro, Ruepp, Marc-David, Calogero, Raffaele A., Volinia, Stefano, Galasso, Marco, Bendotti, Caterina, Ferrarese, Carlo, Lunetta, Christian, Rizzuti, Mafalda, Ronchi, Antonella E., Mühlemann, Oliver, Tremolizzo, Lucio, Corti, Stefania, Barabino, Silvia M.L.

“…•miR-129-5p is increased in different models of SOD1-linked ALS and in peripheral blood cells of sporadic ALS patients.•miR-129-5p upregulation causes the…”
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Exploiting the role of CSF NfL, CHIT1, and miR-181b as potential diagnostic and prognostic biomarkers for ALS by Gagliardi, Delia, Rizzuti, Mafalda, Masrori, Pegah, Saccomanno, Domenica, Del Bo, Roberto, Sali, Luca, Meneri, Megi, Scarcella, Simone, Milone, Ilaria, Hersmus, Nicole, Ratti, Antonia, Ticozzi, Nicola, Silani, Vincenzo, Poesen, Koen, Van Damme, Philip, Comi, Giacomo Pietro, Corti, Stefania, Verde, Federico

“…Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disorder characterized by relentless and progressive loss of motor neurons. A molecular…”
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Genomic and transcriptomic advances in amyotrophic lateral sclerosis by Rizzuti, Mafalda, Sali, Luca, Melzi, Valentina, Scarcella, Simone, Costamagna, Gianluca, Ottoboni, Linda, Quetti, Lorenzo, Brambilla, Lorenzo, Papadimitriou, Dimitra, Verde, Federico, Ratti, Antonia, Ticozzi, Nicola, Comi, Giacomo Pietro, Corti, Stefania, Gagliardi, Delia

“…Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder and the most common motor neuron disease. ALS shows substantial clinical and molecular…”
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Human spinal cord-like organoids to model C9ORF72 ALS and test new therapies in vitro by Costamagna, Gianluca, Galli, Noemi, Rizzuti, Mafalda, Frizzi, Benedetta, Biella, Fabio, Taiana, Michela, Ghezzi, Stefano, Faravelli, Irene, Comi, Giacomo Pietro, Nizzardo, Monica, Corti, Stefania

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MicroRNAs as serum biomarkers in Becker muscular dystrophy by Gagliardi, Delia, Rizzuti, Mafalda, Brusa, Roberta, Ripolone, Michela, Zanotti, Simona, Minuti, Elisa, Parente, Valeria, Dioni, Laura, Cazzaniga, Sara, Bettica, Paolo, Bresolin, Nereo, Comi, Giacomo Pietro, Corti, Stefania, Magri, Francesca, Velardo, Daniele

“…Becker muscular dystrophy (BMD) is an X‐linked neuromuscular disorder due to mutation in the DMD gene, encoding dystrophin. Despite a wide clinical…”
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Exploiting Integrated miRNAs Analysis of Patient-derived iPSCs-Motor Neurons to Develop a Molecular Therapy for ALS (P4.430) by Rizzuti, Mafalda, Nizzardo, Monica, Melzi, Valentina, Filosa, Giuseppe, Dioni, Laura, Calandriello, Luca, Locatelli, Martina, Bresolin, Nereo, Barabino, Silvia, Comi, Giacomo, Corti, Stefania

“…Abstract only…”
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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions by RONCHI, Dario, GARONE, Caterina, CORTI, Stefania, BRESOLIN, Nereo, MOOTHA, Vamsi K, MOGGIO, Maurizio, DIMAURO, Salvatore, COMI, Giacomo P, SCIACCO, Monica, BORDONI, Andreina, GUTIERREZ RIOS, Purificacion, CALVO, Sarah E, RIPOLONE, Michela, RANIERI, Michela, RIZZUTI, Mafalda, VILLA, Luisa, MAGRI, Francesca

“…The molecular diagnosis of mitochondrial disorders still remains elusive in a large proportion of patients, but advances in next generation sequencing are…”
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Lower motor neuron disease with respiratory failure caused by a novel MAPT mutation by Di Fonzo, Alessio, Ronchi, Dario, Gallia, Francesca, Cribiù, Fulvia Milena, Trezzi, Ilaria, Vetro, Annalisa, Della Mina, Erika, Limongelli, Ivan, Bellazzi, Riccardo, Ricca, Ivana, Micieli, Giuseppe, Fassone, Elisa, Rizzuti, Mafalda, Bordoni, Andreina, Fortunato, Francesco, Salani, Sabrina, Mora, Gabriele, Corti, Stefania, Ceroni, Mauro, Bosari, Silvano, Zuffardi, Orsetta, Bresolin, Nereo, Nobile-Orazio, Eduardo, Comi, Giacomo Pietro

“…OBJECTIVE:To investigate the molecular defect underlying a large Italian kindred with progressive adult-onset respiratory failure, proximal weakness of the…”
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Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation by Ronchi, Dario, Bordoni, Andreina, Cosi, Alessandra, Rizzuti, Mafalda, Fassone, Elisa, Di Fonzo, Alessio, Servida, Maura, Sciacco, Monica, Collotta, Martina, Ronzoni, Marco, Lucchini, Valeria, Mattioli, Marco, Moggio, Maurizio, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo P.

“…► Leigh syndrome (LS) is an incurable neurodegenerative pediatric disorder that results from respiratory chain failure. ► LS is associated with mutations in…”
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