Results 11 to 20 of about 35,595 (240)

Full-length human dystrophin on human artificial chromosome compensates for mouse dystrophin deficiency in a Duchenne muscular dystrophy mouse model

Scientific Reports, 2023
Dystrophin maintains membrane integrity as a sarcolemmal protein. Dystrophin mutations lead to Duchenne muscular dystrophy, an X-linked recessive disorder.
Yosuke Hiramuki, Satoshi Abe, Narumi Uno, Kanako Kazuki, Shuta Takata, Hitomaru Miyamoto, Haruka Takayama, Kayoko Morimoto, Shoko Takehara, Mitsuhiko Osaki, Jun Tanihata, Shin’ichi Takeda, Kazuma Tomizuka, Mitsuo Oshimura, Yasuhiro Kazuki   +14 more
doaj   +1 more source

Enhanced exon skipping and prolonged dystrophin restoration achieved by TfR1-targeted delivery of antisense oligonucleotide using FORCE conjugation in mdx mice

Nucleic Acids Research, 2022
Current therapies for Duchenne muscular dystrophy (DMD) use phosphorodiamidate morpholino oligomers (PMO) to induce exon skipping in the dystrophin pre-mRNA, enabling the translation of a shortened but functional dystrophin protein.
Cody A. Desjardins, M. Yao, John Hall, Emma O'Donnell, Reshmii Venkatesan, S. Spring, Aiyun Wen, Nelson Hsia, Peiyi Shen, R. Russo, Bo Lan, T. Picariello, Kim Tang, T. Weeden, S. Zanotti, Romesh R. Subramanian, O. Ibraghimov-Beskrovnaya   +16 more
semanticscholar   +1 more source

Alterations of dystrophin-associated glycoproteins in the heart lacking dystrophin or dystrophin and utrophin [PDF]

Journal of Muscle Research and Cell Motility, 2013
Heart disease is a leading cause of death in patients with Duchenne muscular dystrophy (DMD). Patients with DMD lack the protein dystrophin, which is widely expressed in striated muscle. In skeletal muscle, the loss of dystrophin results in dramatically decreased expression of the dystrophin associated glycoprotein complex (DGC).
Katharine M. Sharpe, Monica D. Premsukh, DeWayne Townsend   +2 more
openaire   +3 more sources

The effects of low levels of dystrophin on mouse muscle function and pathology. [PDF]

PLoS ONE, 2012
Duchenne muscular dystrophy (DMD) is a severe progressive muscular disorder caused by reading frame disrupting mutations in the DMD gene, preventing the synthesis of functional dystrophin. As dystrophin provides muscle fiber stability during contractions,
Maaike van Putten, Margriet Hulsker, Vishna Devi Nadarajah, Sandra H van Heiningen, Ella van Huizen, Maarten van Iterson, Peter Admiraal, Tobias Messemaker, Johan T den Dunnen, Peter A C 't Hoen, Annemieke Aartsma-Rus   +10 more
doaj   +1 more source

Proteomic analysis reveals new cardiac-specific dystrophin-associated proteins. [PDF]

PLoS ONE, 2012
Mutations affecting the expression of dystrophin result in progressive loss of skeletal muscle function and cardiomyopathy leading to early mortality.
Eric K Johnson, Liwen Zhang, Marvin E Adams, Alistair Phillips, Michael A Freitas, Stanley C Froehner, Kari B Green-Church, Federica Montanaro   +7 more
doaj   +1 more source

A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies

Acta Neuropathologica Communications, 2020
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.
Dominic Scaglioni, Matthew Ellis, Francesco Catapano, Silvia Torelli, Darren Chambers, Lucy Feng, Caroline Sewry, Jennifer Morgan, Francesco Muntoni, Rahul Phadke   +9 more
doaj   +1 more source

Novel Nuclear Protein Complexes of Dystrophin 71 Isoforms in Rat Cultured Hippocampal GABAergic and Glutamatergic Neurons. [PDF]

PLoS ONE, 2015
The precise functional role of the dystrophin 71 in neurons is still elusive. Previously, we reported that dystrophin 71d and dystrophin 71f are present in nuclei from cultured neurons.
Rafael Rodríguez-Muñoz, María Del Carmen Cárdenas-Aguayo, Víctor Alemán, Beatriz Osorio, Oscar Chávez-González, Alvaro Rendon, Dalila Martínez-Rojas, Marco Antonio Meraz-Ríos   +7 more
doaj   +1 more source

Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy

JAMA Neurology, 2020
This nonrandomized controlled trial analyzes safety, biological, and functional outcomes associated with the infusion of rAAVrh74.MHCK7.micro-dystrophin gene transfer in a small group of patients with Duchenne muscular dystrophy.
J. Mendell, Z. Sahenk, K. Lehman, C. Nease, L. Lowes, N. Miller, M. Iammarino, L. Alfano, A. Nicholl, S. Al-Zaidy, S. Lewis, K. Church, R. Shell, L. Cripe, R. Potter, D. Griffin, E. Pozsgai, A. Dugar, M. Hogan, L. Rodino-Klapac   +19 more
semanticscholar   +1 more source

Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy

Neurology, 2020
Objective To report safety, pharmacokinetics, exon 53 skipping, and dystrophin expression in golodirsen-treated patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping.
D. Frank, F. Schnell, Cody Akana, Saleh H. El-Husayni, C. Desjardins, J. Morgan, J. Charleston, V. Sardone, J. Domingos, G. Dickson, V. Straub, M. Guglieri, E. Mercuri, L. Servais, F. Muntoni   +14 more
semanticscholar   +1 more source

Uniform sarcolemmal dystrophin expression is required to prevent extracellular microRNA release and improve dystrophic pathology

Journal of Cachexia, Sarcopenia and Muscle, 2020
Background Duchenne muscular dystrophy (DMD) is a fatal muscle‐wasting disorder caused by genetic loss of dystrophin protein. Extracellular microRNAs (ex‐miRNAs) are putative, minimally invasive biomarkers of DMD. Specific ex‐miRNAs (e.g. miR‐1, miR‐133a,
Tirsa L.E. vanWestering, Yulia Lomonosova, Anna M.L. Coenen‐Stass, Corinne A. Betts, Amarjit Bhomra, Margriet Hulsker, Lucy E. Clark, Graham McClorey, Annemieke Aartsma‐Rus, Maaike vanPutten, Matthew J.A. Wood, Thomas C. Roberts   +11 more
doaj   +1 more source