Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Valentina Sardone"'
Autor:
Michela Dell'Orco, Valentina Sardone, Amy S. Gardiner, Orietta Pansarasa, Matteo Bordoni, Nora I. Perrone-Bizzozero, Cristina Cereda
Publikováno v:
Neurobiology of Disease, Vol 148, Iss , Pp 105211- (2021)
The neuronal RNA-binding protein (RBP) HuD plays an important role in brain development, synaptic plasticity and neurodegenerative diseases such as Parkinson's (PD) and Alzheimer's (AD). Bioinformatics analysis of the human SOD1 mRNA 3′ untranslate
Externí odkaz:
https://doaj.org/article/45624ec5582648dd860a055d931ca28f
Autor:
Caroline Godfrey, Lourdes R Desviat, Bård Smedsrød, France Piétri‐Rouxel, Michela A Denti, Petra Disterer, Stéphanie Lorain, Gisela Nogales‐Gadea, Valentina Sardone, Rayan Anwar, Samir EL Andaloussi, Taavi Lehto, Bernard Khoo, Camilla Brolin, Willeke MC van Roon‐Mom, Aurélie Goyenvalle, Annemieke Aartsma‐Rus, Virginia Arechavala‐Gomeza
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 5, Pp 545-557 (2017)
Abstract The use of splice‐switching antisense therapy is highly promising, with a wealth of pre‐clinical data and numerous clinical trials ongoing. Nevertheless, its potential to treat a variety of disorders has yet to be realized. The main obst
Externí odkaz:
https://doaj.org/article/dc24c7db81c9430cadef6dc5077b7915
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
Autor:
Monika Hiller, Maria Sofia Falzarano, Iker Garcia-Jimenez, Valentina Sardone, Ruurd C Verheul, Linda Popplewell, Karen Anthony, Estibaliz Ruiz-Del-Yerro, Hana Osman, Jelle J Goeman, Kamel Mamchaoui, George Dickson, Alessandra Ferlini, Francesco Muntoni, Annemieke Aartsma-Rus, Virginia Arechavala-Gomeza, Nicole A Datson, Pietro Spitali
Publikováno v:
PLoS ONE, Vol 13, Iss 10, p e0204485 (2018)
BACKGROUND:Duchenne muscular dystrophy is a lethal disease caused by lack of dystrophin. Skipping of exons adjacent to out-of-frame deletions has proven to restore dystrophin expression in Duchenne patients. Exon 51 has been the most studied target i
Externí odkaz:
https://doaj.org/article/bfcda443e99b4e5388c172844550fbbe
Autor:
Pamela Milani, Marialaura Amadio, Umberto Laforenza, Michela Dell'Orco, Luca Diamanti, Valentina Sardone, Stella Gagliardi, Stefano Govoni, Mauro Ceroni, Alessia Pascale, Cristina Cereda
Publikováno v:
Neurobiology of Disease, Vol 60, Iss , Pp 51-60 (2013)
Increased levels of SOD1 mRNA have been observed in sporadic ALS patients (SALS) compared to controls. Hence, the understanding of the mechanisms by which SOD1 gene expression is modulated may shed new light on SOD1 involvement in ALS. Of interest, s
Externí odkaz:
https://doaj.org/article/7a04dcc46d4540d3b88fc7b4706ed916
Autor:
Youn-Bok Lee, Han-Jou Chen, João N. Peres, Jorge Gomez-Deza, Jan Attig, Maja Štalekar, Claire Troakes, Agnes L. Nishimura, Emma L. Scotter, Caroline Vance, Yoshitsugu Adachi, Valentina Sardone, Jack W. Miller, Bradley N. Smith, Jean-Marc Gallo, Jernej Ule, Frank Hirth, Boris Rogelj, Corinne Houart, Christopher E. Shaw
Publikováno v:
Cell Reports, Vol 5, Iss 5, Pp 1178-1186 (2013)
The GGGGCC (G4C2) intronic repeat expansion within C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Intranuclear neuronal RNA foci have been observed in ALS and FTD tissues, suggesting
Externí odkaz:
https://doaj.org/article/9cf3164a2c9e4faabd2f8beeacdd1d31
Publikováno v:
Molecules, Vol 22, Iss 4, p 563 (2017)
Neuromuscular disorders such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy are neurodegenerative genetic diseases characterized primarily by muscle weakness and wasting. Until recently there were no effective therapies for these conditio
Externí odkaz:
https://doaj.org/article/ea07e7b814bc451ba79c112eec39b507
Autor:
Agnes L Nishimura, Carole Shum, Emma L Scotter, Amr Abdelgany, Valentina Sardone, Jamie Wright, Youn-Bok Lee, Han-Jou Chen, Bilada Bilican, Monica Carrasco, Tom Maniatis, Siddharthan Chandran, Boris Rogelj, Jean-Marc Gallo, Christopher E Shaw
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e91269 (2014)
TDP-43 is found in cytoplasmic inclusions in 95% of amyotrophic lateral sclerosis (ALS) and 60% of frontotemporal lobar degeneration (FTLD). Approximately 4% of familial ALS is caused by mutations in TDP-43. The majority of these mutations are found
Externí odkaz:
https://doaj.org/article/fa42f11aa6034af69f65a96cb5723752
Publikováno v:
Neurology Research International, Vol 2012 (2012)
In the last years, numerous studies have focused on understanding the metabolism of RNA and its implication in disease processes but abnormal RNA metabolism is still unknown. RNA plays a central role in translating genetic information into proteins a
Externí odkaz:
https://doaj.org/article/ab4b08c1bbbb44bea4308e7b0d102bb3
Autor:
Tanya Stojkovic, Rahul Phadke, Rabah Ben Yaou, Pascal Sabouraud, Andoni Urtizberea, Joana Domingos, Matthew J Ellis, Adam Jones, Deborah M. Eastwood, Domenic Scaglioni, D. Chambers, Jennifer E Morgan, Tracey Willis, Silvia Torelli, Enzo Ricci, Lucy Feng, Maud Beuvin, Valentina Sardone, Giorgio Tasca, Francesco Muntoni, Caroline Sewry, Christine Barnerias, Gisèle Bonne, R. Kulshrestha
Publikováno v:
Journal of Neuropathology and Experimental Neurology
Journal of Neuropathology and Experimental Neurology, Lippincott, Williams & Wilkins, 2021, 80 (10), pp.955-965. ⟨10.1093/jnen/nlab088⟩
Journal of Neuropathology and Experimental Neurology, 2021, 80 (10), pp.955-965. ⟨10.1093/jnen/nlab088⟩
Journal of Neuropathology and Experimental Neurology, Lippincott, Williams & Wilkins, 2021, 80 (10), pp.955-965. ⟨10.1093/jnen/nlab088⟩
Journal of Neuropathology and Experimental Neurology, 2021, 80 (10), pp.955-965. ⟨10.1093/jnen/nlab088⟩
Duchenne muscular dystrophy (DMD) is an incurable disease caused by out-of-frame DMD gene deletions while in frame deletions lead to the milder Becker muscular dystrophy (BMD). In the last decade several antisense oligonucleotides drugs have been dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e69fcd3f03ae46abdd90c4acd0046744
https://hal.sorbonne-universite.fr/hal-03454233
https://hal.sorbonne-universite.fr/hal-03454233
