Results 21 to 30 of about 7,173 (197)

CRISPR applications for Duchenne muscular dystrophy: From animal models to potential therapies

WIREs Mechanisms of Disease, Volume 15, Issue 1, January/February 2023., 2023
CRISPR‐Cas9 gene‐editing technology enables the rapid generation of animal models for Duchenne muscular dystrophy research and has potential to be developed as CRISPR therapy for the long lasting genetic correction of causal mutations. Abstract CRISPR gene‐editing technology creates precise and permanent modifications to DNA.
Yu C. J. Chey, Jayshen Arudkumar, Annemieke Aartsma‐Rus, Fatwa Adikusuma, Paul Q. Thomas   +4 more
wiley   +1 more source

A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient Cavalier King Charles Spaniels is amenable to exon 51 skipping [PDF]

, 2010
BACKGROUND Duchenne muscular dystrophy (DMD), which afflicts 1 in 3500 boys, is one of the most common genetic disorders of children. This fatal degenerative condition is caused by an absence or deficiency of dystrophin in striated muscle.
Arechavala-Gomeza, Virginia, Burke, Margaret M, Chandler, Kate, Fernandez-Fuente, Marta, Holder, Angela, Marks, Stanley L, Muntoni, Francesco, Nagel, Nicole, Piercy, Richard J, Shelton, G Diane, Stanley, Rachael, Walmsley, Gemma L   +11 more
core   +7 more sources

Early administration of L‐arginine in mdx neonatal mice delays the onset of muscular dystrophy in tibialis anterior (TA) muscle

FASEB BioAdvances, 2021
Duchenne muscular dystrophy (DMD) is a genetic disorder that results in the absence of dystrophin, a cytoskeletal protein. Individuals with this disease experience progressive muscle destruction, which leads to muscle weakness.
Roy W. R. Dudley, Alain S. Comtois, David H. St‐Pierre, Gawiyou Danialou   +3 more
doaj   +1 more source

An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]

, 2013
Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene, Chamberlain, Jeffrey S, Darabi, Radbod, Ervasti, James M, Filareto, Antonio, Iacovino, Michelina, Kyba, Michael, Mayerhofer, Timothy, McIvor, R Scott, Parker, Sarah, Perlingeiro, Rita CR, Schaaf, Tory   +11 more
core   +2 more sources

Identification of therapeutics that target eEF1A2 and upregulate utrophin A translation in dystrophic muscles

Nature Communications, 2020
One potential approach for the treatment of Duchenne muscular dysrophy is to increase expression of the dystrophin homolog utrophin. Here, the authors show that eEF1A2 regulates utrophin expression, and show that 2 FDA-approved drugs upregulate eEIF1A2 ...
Christine Péladeau, Nadine Adam, Lucas M. Bronicki, Adèle Coriati, Mohamed Thabet, Hasanen Al-Rewashdy, Jason Vanstone, Alan Mears, Jean-Marc Renaud, Martin Holcik, Bernard J. Jasmin   +10 more
doaj   +1 more source

Sertoli Cells Improve Myogenic Differentiation, Reduce Fibrogenic Markers, and Induce Utrophin Expression in Human DMD Myoblasts

Biomolecules, 2021
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in DMD gene translating in lack of functional dystrophin and resulting in susceptibility of myofibers to rupture during contraction.
Laura Salvadori, Sara Chiappalupi, Iva Arato, Francesca Mancuso, Mario Calvitti, Maria Cristina Marchetti, Francesca Riuzzi, Riccardo Calafiore, Giovanni Luca, Guglielmo Sorci   +9 more
doaj   +1 more source

Functional characterization of orbicularis oculi and extraocular muscles [PDF]

, 2016
The orbicularis oculi are the sphincter muscles of the eyelids and are involved in modulating facial expression. They differ from both limb and extraocular muscles (EOMs) in their histology and biochemistry. Weakness of the orbicularis oculi muscles is a
Goldblum, David, Palmowski-Wolfe, Anja, Sekulic-Jablanovic, Marijana, Treves, Susan, Ullrich, Nina D., Zorzato, Francesco   +5 more
core   +2 more sources

Review: Dystroglycan in the Nervous System [PDF]

, 2007
Dystroglycan is part of a large complex of proteins, the dystrophin-glycoprotein complex, which has been implicated in the pathogenesis of muscular dystrophies for a long time.
Matthias Samwald
core   +2 more sources

Utrophin modulator drugs as potential therapies for Duchenne and Becker muscular dystrophies [PDF]

, 2021
Utrophin is an autosomal paralogue of dystrophin, a protein whose deficit causes Duchenne and Becker muscular dystrophies (DMD/BMD). Utrophin is naturally overexpressed at the sarcolemma of mature dystrophin-deficient fibres in DMD and BMD patients as ...
Arechavala-Gomeza, Virginia, De la Puente-Ovejero, Laura, López-Martínez, Andrea, Soblechero-Martín, Patricia, Vallejo Illarramendi, Ainara   +4 more
core   +1 more source

Sarcospan Regulates Cardiac Isoproterenol Response and Prevents Duchenne Muscular Dystrophy-Associated Cardiomyopathy. [PDF]

, 2015
BackgroundDuchenne muscular dystrophy is a fatal cardiac and skeletal muscle disease resulting from mutations in the dystrophin gene. We have previously demonstrated that a dystrophin-associated protein, sarcospan (SSPN), ameliorated Duchenne muscular ...
Crosbie-Watson, Rachelle H, Jordan, Maria C, Marshall, Jamie L, Nguyen, Reginald T, Parvatiyar, Michelle S, Richardson, Vanitra A, Roos, Kenneth P   +6 more
core   +1 more source