Results 51 to 60 of about 48,181 (245)

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]

, 2016
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core  

Versatile Cell Penetrating Peptide for Multimodal CRISPR Gene Editing in Primary Stem Cells

Advanced Functional Materials, EarlyView.
CRISPR machinery in diverse molecular formats (DNA, RNA, and ribonucleic protein) is complexed into nanoparticles with the cell‐friendly arginine‐alanine‐leucine‐alanine (RALA) cell‐penetrating peptide. Nanoparticles are delivered to primary mesenchymal stem cells ex vivo or locally in vivo to facilitate multimodal CRISPR gene editing. This RALA‐CRISPR
Joshua P. Graham, Jose Gabriel Castro, Lisette C. Werba, Joseph Amitrano, Luke Fardone, Kevin P. Francis, Anand Ramamurthi, Michael J. Layden, Helen O. McCarthy, Tomas Gonzalez‐Fernandez   +9 more
wiley   +1 more source

Cell Surface Thiol Engineering Mechanoregulates Myogenic Differentiation via the FAK–PI3K–AKT Axis

Advanced Healthcare Materials, EarlyView.
Schematic diagram illustrating how cell surface modification of skeletal muscle progenitor cells through TCEP treatment reveals enhanced cell adhesion, intracellular tension, and myogenesis at 19.66 kPa stiffness, leading to optimal cell fusion. In contrast, no significant changes are observed in the softer (10.61 kPa) or stiffer (49.4 kPa) matrices ...
Juyeon Kim, Sung Sik Hur, Jae Hong Park, Myung Jin Ban, Jin‐Young Kim, Joo Hyun Kim, Ji Hyae Choo, Hae‐Won Kim, Ju Hun Lee, Man Ryul Lee, Yongsung Hwang   +10 more
wiley   +1 more source

Increased levels of interleukin-6 exacerbate the dystrophic phenotype in mdx mice [PDF]

, 2015
Duchenne muscular dystrophy (DMD) is characterized by progressive lethal muscle degeneration and chronic inflammatory response. The mdx mouse strain has served as the animal model for human DMD. However, while DMD patients undergo extensive necrosis, the
Berardinelli, Maria Grazia, Camilli, Carlotta, Catizone, Angela, De Benedetti, Fabrizio, Forcina, Laura, Musarò, Antonio, Nicoletti, Carmine, Pelosi, Laura, Rizzuto, Emanuele, Spelta, Elisa, Testa, Erika   +10 more
core   +2 more sources

Potentiating Cerebral Perfusion Normalizes Glymphatic Dynamics in Systemic Inflammation

Advanced Science, EarlyView.
LPS‐induced systemic inflammation increases glymphatic influx but delays cervical lymphatic drainage, accompanied by AQP4 depolarization and impaired glymphatic clearance. Enhancing cerebral blood flow via the inotropic agent levosimendan effectively restored AQP4 polarization, improving glymphatic flux and amyloid‐β clearance.
Ruoyu Zhao, Bin Sun, Pengju Wei, Yingying Sun, Qianyan He, Kejia Zhang, Jun Lu, Shoujun Zhu, Yi Yang, Zhenni Guo   +9 more
wiley   +1 more source

A nitric oxide synthase transgene ameliorates muscular dystrophy in mdx mice. [PDF]

, 2001
Dystrophin-deficient muscles experience large reductions in expression of nitric oxide synthase (NOS), which suggests that NO deficiency may influence the dystrophic pathology.
Spencer, MJ, Tidball, JG, Wehling, M
core  

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

Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

Orphanet Journal of Rare Diseases, 2012
Background Dystrophin is a large essential protein of skeletal and heart muscle. It is a filamentous scaffolding protein with numerous binding domains. Mutations in the DMD gene, which encodes dystrophin, mostly result in the deletion of one or several ...
Nicolas Aurélie, Lucchetti-Miganeh Céline, Yaou Rabah, Kaplan Jean-Claude, Chelly Jamel, Leturcq France, Barloy-Hubler Frédérique, Le Rumeur Elisabeth   +7 more
doaj   +1 more source

The Evolutionarily Conserved TPM1 Super‐Enhancer Drives Skeletal Muscle Regeneration via Mechanotransduction Signaling

Advanced Science, EarlyView.
By integrating biomechanical and epigenetic cues, the evolutionarily conserved TPM1 super‐enhancer drives myogenesis via TEAD4‐mediated chromatin looping. This mechanism produces species‐specific outputs (linear TPM1 mRNA in mice and CircTPM1 in bovine) that activate PI3K/AKT mechanotransduction and the MYH10/MYL3 axis to execute cytoskeletal ...
Ruimen Zhang, Wanyou Feng, Yanyan Yang, Yu Pan, Chaoxia Zou, Leyi Wang, Sanbao Zhang, Yimin Zhao, Yongmei Wu, Jinling Wang, Jianwei Zou, Kehe Cen, Yongwang Zhang, Han Huang, Yurong Xu, Li Zhong, Hailong Gong, Juanru Cheng, Jingyuan Liang, Zihua Zheng, Qinyang Jiang, Jingwei Wei, Hui Li, Minhui Liang, Deshun Shi, Sufang Yang, Yanfei Deng, Yingming Wei   +27 more
wiley   +1 more source

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples. [PDF]

PLoS ONE, 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 ...
Valentina Sardone, Matthew Ellis, Silvia Torelli, Lucy Feng, Darren Chambers, Deborah Eastwood, Caroline Sewry, Rahul Phadke, Jennifer E Morgan, Francesco Muntoni   +9 more
doaj   +1 more source