Zobrazeno 1 - 10
of 85
pro vyhledávání: '"Silvia Torelli"'
Autor:
Rachele Rossi, Silvia Torelli, Pierpaolo Ala, William Weston, Jennifer Morgan, Jyoti Malhotra, Francesco Muntoni
Publikováno v:
Frontiers in Physiology, Vol 14 (2023)
The conversion of fibroblasts into myogenic cells is a powerful tool to both develop and test therapeutic strategies and to perform in-depth investigations of neuromuscular disorders, avoiding the need for muscle biopsies. We developed an easy, repro
Externí odkaz:
https://doaj.org/article/9fb118d408ac423ba264d00b87066743
Autor:
Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giulia Ferrari, Anna Kowala, Yung‐Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 2, Pp 1360-1372 (2022)
Abstract Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle and is also expressed in the central nervous system (CNS). Two shor
Externí odkaz:
https://doaj.org/article/f0e9fb8a39b84e67b80fc0751fc0cab9
Autor:
Dominic Scaglioni, Francesco Catapano, Matthew Ellis, Silvia Torelli, Darren Chambers, Lucy Feng, Matthew Beck, Caroline Sewry, Mauro Monforte, Shawn Harriman, Erica Koenig, Jyoti Malhotra, Linda Popplewell, Michela Guglieri, Volker Straub, Eugenio Mercuri, Laurent Servais, Rahul Phadke, Jennifer Morgan, Francesco Muntoni
Publikováno v:
Acta Neuropathologica Communications, Vol 9, Iss 1, Pp 1-17 (2021)
Abstract During the last decade, multiple clinical trials for Duchenne muscular dystrophy (DMD) have focused on the induction of dystrophin expression using different strategies. Many of these trials have reported a clear increase in dystrophin prote
Externí odkaz:
https://doaj.org/article/0bb99a8919a34521a7b32c5a0a245087
Autor:
Virginie Mariot, Caroline Le Guiner, Inès Barthélémy, Marie Montus, Stéphane Blot, Silvia Torelli, Jennifer Morgan, Francesco Muntoni, Thomas Voit, Julie Dumonceaux
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 18, Iss , Pp 415-421 (2020)
Recently, several promising treatments have emerged for neuromuscular disorders, highlighting the need for robust biomarkers for monitoring therapeutic efficacy and maintenance of the therapeutic effect. Several studies have proposed circulating and
Externí odkaz:
https://doaj.org/article/9678a15b82664dd190eb4ecc6c84742a
Autor:
Dominic Scaglioni, Matthew Ellis, Francesco Catapano, Silvia Torelli, Darren Chambers, Lucy Feng, Caroline Sewry, Jennifer Morgan, Francesco Muntoni, Rahul Phadke
Publikováno v:
Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-16 (2020)
Abstract The primary molecular endpoint for many Duchenne muscular dystrophy (DMD) clinical trials is the induction, or increase in production, of dystrophin protein in striated muscle. For accurate endpoint analysis, it is essential to have reliable
Externí odkaz:
https://doaj.org/article/043c3f49a55448e78a0c3e63f080d8bb
Autor:
Maria Sofia Falzarano, Rachele Rossi, Andrea Grilli, Mingyan Fang, Hana Osman, Patrizia Sabatelli, Manuela Antoniel, Zhiyuan Lu, Wenyan Li, Rita Selvatici, Cristina Al-Khalili, Francesca Gualandi, Silvio Bicciato, Silvia Torelli, Alessandra Ferlini
Publikováno v:
Frontiers in Physiology, Vol 12 (2021)
Background: Neuromuscular disorders (NMDs) are a heterogeneous group of genetic diseases, caused by mutations in genes involved in spinal cord, peripheral nerve, neuromuscular junction, and muscle functions. To advance the knowledge of the pathologic
Externí odkaz:
https://doaj.org/article/73150439769649459f63a62da9f5f2a9
Autor:
Ameya S Walimbe, Hidehiko Okuma, Soumya Joseph, Tiandi Yang, Takahiro Yonekawa, Jeffrey M Hord, David Venzke, Mary E Anderson, Silvia Torelli, Adnan Manzur, Megan Devereaux, Marco Cuellar, Sally Prouty, Saul Ocampo Landa, Liping Yu, Junyu Xiao, Jack E Dixon, Francesco Muntoni, Kevin P Campbell
Publikováno v:
eLife, Vol 9 (2020)
Matriglycan [-GlcA-β1,3-Xyl-α1,3-]n serves as a scaffold in many tissues for extracellular matrix proteins containing laminin-G domains including laminin, agrin, and perlecan. Like-acetyl-glucosaminyltransferase 1 (LARGE1) synthesizes and extends m
Externí odkaz:
https://doaj.org/article/17d3f0ccf58a40a8a791f30363198f9e
Autor:
Anna Urciuolo, Luca Urbani, Silvia Perin, Panagiotis Maghsoudlou, Federico Scottoni, Asllan Gjinovci, Henry Collins-Hooper, Stavros Loukogeorgakis, Athanasios Tyraskis, Silvia Torelli, Elena Germinario, Mario Enrique Alvarez Fallas, Carla Julia-Vilella, Simon Eaton, Bert Blaauw, Ketan Patel, Paolo De Coppi
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-20 (2018)
Abstract Pathological conditions affecting skeletal muscle function may lead to irreversible volumetric muscle loss (VML). Therapeutic approaches involving acellular matrices represent an emerging and promising strategy to promote regeneration of ske
Externí odkaz:
https://doaj.org/article/60c000f05b17423389276b399e8a2068
Autor:
Wendy E. Heywood, Emily Bliss, Philippa Mills, Jale Yuzugulen, Gabriela Carreno, Peter T. Clayton, Francesco Muntoni, Viki C. Worthington, Silvia Torelli, Neil J. Sebire, Kevin Mills, Stephanie Grunewald
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 7, Iss C, Pp 55-62 (2016)
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular dystroglycano
Externí odkaz:
https://doaj.org/article/c47930a423ea4b258138cf8dcc83a3f3
Autor:
Valentina Sardone, Matthew Ellis, Silvia Torelli, Lucy Feng, Darren Chambers, Deborah Eastwood, Caroline Sewry, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0194540 (2018)
Clinical trials using strategies aimed at inducing dystrophin expression in Duchenne muscular dystrophy (DMD) are underway or at advanced planning stage, including splice switching antisense oligonucleotides (AON), drugs to induce read-through of non
Externí odkaz:
https://doaj.org/article/cb7c92cc16454711a4912773fe14b1a9