Results 11 to 20 of about 59,671 (341)

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy [PDF]

Science, 2018
Gene editing and muscular dystrophy Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness and a shortened life span. The disease is caused by mutations that reduce or prevent expression of dystrophin, an essential structural ...
L. Amoasii, J. Hildyard, Hui Li, E. Sánchez-Ortiz, A. Mireault, Daniel Caballero, R. Harron, T. Stathopoulou, C. Massey, J. Shelton, R. Bassel-Duby, R. Piercy, E. Olson   +12 more
semanticscholar   +4 more sources

The importance of dystrophin and the dystrophin associated proteins in vascular smooth muscle

Frontiers in Physiology, 2022
This review details the role of dystrophin and the dystrophin associated proteins (DAPs) in the vascular smooth muscle. Dystrophin is most comprehensively studied in the skeletal muscle due to serious symptoms found related to the skeletal muscle of ...
Katherine M. Kaplan, Kathleen G. Morgan
doaj   +4 more sources

Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs [PDF]

, 2018
Four full-sibling intact male Miniature Poodles were evaluated at 4–19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated
A Aartsma-Rus, A McKenna, Alberta de Stefani, Anita Shea, AP Monaco, AV Winnard, BA Valentine, BF Smith, BJ Cooper, C Le Guiner, C Pichavant, CA Collins, CA Jenkins, CA Wetterman, Carlos E. Ambrósio, CT Caskey, DE Cole, DJ VanBelzen, Elsa Beltrán, EM Hoogerwaard, EM Hoogerwaard, EP Hoffman, F Daoud, G Anil, G Bulfield, G. Diane Shelton, GD Shelton, GD Shelton, GD Shelton, GD Shelton, GL Walmsley, H Li, JA Goldstein, JL Carpenter, JN Kornegay, JN Kornegay, JR Mendell, JW McGreevy, K Bushby, K Nakamura, KJ Livak, KJ Nowak, Ling T. Guo, Lluís Sánchez, Louise M. Burmeister, LT Guo, Luisa De Risio, M Koenig, N Klymiuk, N Winand, NJ Olby, NJ Sharp, PP Nghiem, S Atencia-Fernandez, S Pouwels, S Rozen, SJ Schatzberg, SJ Schatzberg, T Larcher, U Francke, V Dubowitz, V Ricotti, W El Nemer, WI Baltzer   +63 more
core   +33 more sources

Dystrophin and dystrophin-associated protein in muscles and nerves from monkey

European Journal of Histochemistry, 2009
Since all organs (i.e. skeletal, cardiac, smooth muscles and sciatic nerve) are never only taken from a single patient, all these tissues were obtained from one cynomolgus monkey, a model closely resembling humans.
M Royuela, D Chazalette, F Rivier, G Hugon, R Paniagua, V Guerlavais, JA Fehrentz, J Martinez, D Mornet   +8 more
doaj   +5 more sources

Dystrophin-Deficient Cardiomyopathy.

Journal of the American College of Cardiology, 2016
Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the structural cytoskeletal Dystrophin gene. Dystrophinopathies include Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy, as well as DMD and BMD female carriers.
F. Kamdar, D. Garry
semanticscholar   +3 more sources

N‐terminal domain of dystrophin [PDF]

FEBS Letters, 1994
Contro‐versial experiments have been published on calmodulin binding of dystrophin. In this study, we used recombinant proteins and the techniques of affinity chromatography and ELISA to show that the N‐terminal part of dystrophin binds calmodulin specifically in a calcium‐dependent manner. The calcium‐dependent interaction of calmodulin and dystrophin
Armelle Bonet‐Kerrache, Eric Fabbrizio, Dominique Mornet   +2 more
openalex   +5 more sources

The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction

Communications Biology, 2022
Dystrophin is the central protein of the dystrophin-glycoprotein complex (DGC) in skeletal and heart muscle cells. Dystrophin connects the actin cytoskeleton to the extracellular matrix (ECM).
D. Wilson, A. Tinker, T. Iskratsch
semanticscholar   +1 more source

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

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