Results 91 to 100 of about 59,671 (341)

Micro-Dystrophin Gene Therapy Goes Systemic in Duchenne Muscular Dystrophy Patients.

Human Gene Therapy, 2018
Whole-body systemic gene therapy is likely the most effective way to reduce greatly the disease burden of Duchenne muscular dystrophy (DMD), an X-linked inherited muscle disease that leads to premature death in early adulthood. Genetically, DMD is due to
D. Duan
semanticscholar   +1 more source

Dystrophins and dystrobrevins.

Genome biology, 2001
A unique arrangement of domains makes up the common region of two otherwise very different proteins - long, elegant dystrophin, and its rather dumpy distant cousin, dystrobrevin. The two work in concert, forming the core of a large membrane-bound complex in all metazoa.
openaire   +3 more sources

Muscle Organoids Reveal Exercise‐Like Contractions Rapidly Promote Muscle Health Via Lamtor1's Signaling to Both AMPK and mTOR

Advanced Science, EarlyView.
This study develops a novel 3D human skeletal muscle organoid platform to study the immediate molecular effects of exercise‐like contractions. The model uncovers rapid proteomic and transcriptomic responses, resolving a fundamental paradox by demonstrating how exercise‐induced Lamtor1 coordinately activates both AMPK and mTORC1. Lamtor1 is a compelling
Ziyue Yao, Zongmin Jiang, Xupeng Liu, Liping Zhang, Siyu Guo, Yu Chen, Lanfang Luo, Shilin Ma, Peng Wang, Ng Shyh‐Chang   +9 more
wiley   +1 more source

Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy [PDF]

, 2018
Duchenne muscle dystrophy (DMD) is a genetic disorder characterized by progressive skeletal muscle weakness. Dystrophin deficiency induces instability of the sarcolemma during muscle contraction that leads to muscle necrosis and replacement of muscle by ...
Díaz Manera, Jordi, Escudero Cuadrado, Luis María, Fernández Simón, Esther, Gallardo, Eduard, Gómez Gálvez, Pedro, Piñol Jurado, Patricia, Suárez Calvet, Xavier   +6 more
core   +1 more source

CRISPR-induced deletion with SaCas9 restores dystrophin expression in dystrophic models in vitro and in vivo

bioRxiv, 2018
Duchenne Muscular Dystrophy (DMD), a severe hereditary disease, affecting 1 boy out of 3500, mainly results from the deletion of one or more exons leading to a reading frame shift of the DMD gene that abrogates dystrophin protein synthesis.
Benjamin L Duchêne, Khadija Cherif, Jean-Paul Iyombe-Engembe, Antoine Guyon, J. Rousseau, Dominique L. Ouellet, X. Barbeau, Patrick Lague, J. Tremblay   +8 more
semanticscholar   +1 more source

Enhanced Hill's Muscle Model for Tissue‐Engineered Skeletal Muscle and its Application to Reverse‐Action Tweezers Actuation

Advanced Intelligent Systems, EarlyView.
A six‐element viscoelastic model is presented for tissue‐engineered skeletal muscle, addressing the limitations of the conventional Hill's model. By introducing an active branch, the model accurately describes force responses in both elongation and isometric tests and successfully predicts the electrically induced displacement of a reverse‐action ...
Mizuki Nakamura, Masaki Osawa, Akemi Nakayama, Noriyasu Iwamoto, Seiji Takashima, Ken Masuya, Yoshitake Akiyama   +6 more
wiley   +1 more source

Advance and cogitation of gene therapy for Duchenne muscular dystrophy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Duchenne muscular dystrophy (DMD) is the common hereditary muscular disease caused by the deficiency of cytoskeletal protein dystrophin on the sarcolemma.
Cheng ZHANG, Jin-fu LIN, Zi-yu LIAO
doaj  

Targeted Exon Skipping to Address “Leaky” Mutations in the Dystrophin Gene

Molecular Therapy: Nucleic Acids, 2012
Protein-truncating mutations in the dystrophin gene lead to the progressive muscle wasting disorder Duchenne muscular dystrophy, whereas in-frame deletions typically manifest as the milder allelic condition, Becker muscular dystrophy.
Sue Fletcher, Carl F. Adkin, Penny Meloni, Brenda Wong, Francesco Muntoni, Ryszard Kole, Clayton Fragall, Kane Greer, Russell Johnsen, Steve D. Wilton   +9 more
doaj   +1 more source

Differential expression of dystrophin, utrophin and dystrophin‐associated proteins in peripheral nerve [PDF]

FEBS Letters, 1993
The dystrophin‐glycoprotein complex is a novel laminin receptor in skeletal muscle. Dystrophin‐associated proteins are comprised of an extracellular glycoprotein of 156 kDa (156DAG), transmembrane glycoproteins of 50 kDa (50DAG), 43 kDa (43DAG) and 35 kDa (35DAG), and a cytoskeletal protein of 59 kDa (59DAP).
Teruo Shimizu, Kiichiro Matsumura, Kevin P. Campbell, Hiroki Yamada   +3 more
openaire   +3 more sources

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, EarlyView.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source