Shaping the Neurovascular Unit Exploiting Human Brain Organoids.

Autor: 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

Publikováno v: Molecular Neurobiology; Sep2024, Vol. 61 Issue 9, p6642-6657, 16p

Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot–Marie–Tooth type 2A.

Autor: Rizzo, Federica, Bono, Silvia, Ruepp, Marc David, Salani, Sabrina, Ottoboni, Linda, Abati, Elena, Melzi, Valentina, Cordiglieri, Chiara, Pagliarani, Serena, De Gioia, Roberta, Anastasia, Alessia, Taiana, Michela, Garbellini, Manuela, Lodato, Simona, Kunderfranco, Paolo, Cazzato, Daniele, Cartelli, Daniele, Lonati, Caterina, Bresolin, Nereo, Comi, Giacomo

Publikováno v: Cellular & Molecular Life Sciences; Dec2023, Vol. 80 Issue 12, p1-17, 17p

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Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons

Autor: Rizzo, Federica, Nizzardo, Monica, Vashisht, Shikha, Molteni, Erika, Melzi, Valentina, Taiana, Michela, Salani, Sabrina, Santonicola, Pamela, Di Schiavi, Elia, Bucchia, Monica, Bordoni, Andreina, Faravelli, Irene, Bresolin, Nereo, Comi, Giacomo Pietro, Pozzoli, Uberto, Corti, Stefania

Publikováno v: Brain
Brain (Online) 142 (2019): 276–294. doi:10.1093/brain/awy330
info:cnr-pdr/source/autori:Rizzo, Federica; Nizzardo, Monica; Vashisht, Shikha; Molteni, Erika; Melzi, Valentina; Taiana, Michela; Salani, Sabrina; Santonicola, Pamela; Di Schiavi, Elia; Bucchia, Monica; Bordoni, Andreina; Faravelli, Irene; Bresolin, Nereo; Bresolin, Nereo; Comi, Giacomo Pietro; Comi, Giacomo Pietro; Pozzoli, Uberto; Corti, Stefania; Corti, Stefania/titolo:Key role of SMN%2FSYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons/doi:10.1093%2Fbrain%2Fawy330/rivista:Brain (Online)/anno:2019/pagina_da:276/pagina_a:294/intervallo_pagine:276–294/volume:142

The molecular mechanisms responsible for selective motor neuron loss in SMA remain elusive. Rizzo et al. show that deregulated transcripts in SMA-motor neurons share motif 7, targeted by SYNCRIP, which binds SMN. Impaired SYNCRIP-SMN interaction lead

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bfe322502031e97bdf1fd54a24972a7
https://doi.org/10.1093/brain/awy330

A de novo C19orf12 heterozygous mutation in a patient with MPAN

Autor: Monfrini, Edoardo, Melzi, Valentina, Buongarzone, Gabriele, Franco, Giulia, Ronchi, Dario, Dilena, Robertino, Scola, Elisa, Vizziello, Paola, Bordoni, Andreina, Bresolin, Nereo, Comi, Giacomo Pietro, Corti, Stefania, Di Fonzo, Alessio

Publikováno v: In Parkinsonism and Related Disorders March 2018 48:109-111