The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy

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

Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb

Autor: Jenni M. Laitila, Elyshia L. McNamara, Catherine D. Wingate, Hayley Goullee, Jacob A. Ross, Rhonda L. Taylor, Robbert van der Pijl, Lisa M. Griffiths, Rachel Harries, Gianina Ravenscroft, Joshua S. Clayton, Caroline Sewry, Michael W. Lawlor, Coen A. C. Ottenheijm, Anthony J. Bakker, Julien Ochala, Nigel G. Laing, Carina Wallgren-Pettersson, Katarina Pelin, Kristen J. Nowak

Publikováno v: Acta Neuropathologica Communications, Vol 8, Iss 1, Pp 1-19 (2020)

Abstract Nemaline myopathy (NM) caused by mutations in the gene encoding nebulin (NEB) accounts for at least 50% of all NM cases worldwide, representing a significant disease burden. Most NEB-NM patients have autosomal recessive disease due to a comp

Externí odkaz: https://doaj.org/article/091348b090194a35b6fa183d1b10a74b

A chemical chaperone improves muscle function in mice with a RyR1 mutation

Autor: Chang Seok Lee, Amy D. Hanna, Hui Wang, Adan Dagnino-Acosta, Aditya D. Joshi, Mark Knoblauch, Yan Xia, Dimitra K. Georgiou, Jianjun Xu, Cheng Long, Hisayuki Amano, Corey Reynolds, Keke Dong, John C. Martin, William R. Lagor, George G. Rodney, Ergun Sahin, Caroline Sewry, Susan L. Hamilton

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)

Mutations in the RyR1 channel cause core myopathies. Here the authors show that ER stress and the unfolded protein response underlie the pathology caused by a common RyR1 channel mutation, and show that treatment with a chemical chaperone restores mu

Externí odkaz: https://doaj.org/article/8a7faf752203416684267602ebe0758b

Persistently elevated CK and lysosomal storage myopathy associated with mucolipin 1 defects

Autor: Stephanie Grunewald, Anna Sarkozy, Alberto A. Zambon, Alexandra Lemaigre, Emma Clement, Francesco Muntoni, Rahul Phadke, Caroline Sewry

Publikováno v: Neuromuscular Disorders. 31:212-217

Mucolipidosis type IV is a rare autosomal recessive lysosomal storage disorder caused by bi-allelic pathogenic variants in the gene MCOLN1. This encodes for mucolipin-1 (ML1), an endo-lysosomal transmembrane Ca++ channel involved in vesicular traffic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2e83b2f4da786a904cae9fcf092dc8ae
https://doi.org/10.1016/j.nmd.2020.12.009

High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

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⟩

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