Results 1 to 10 of about 23,636 (243)

Dystrophin in Fetal Muscle

Pediatric Neurology Briefs, 1992
Dystrophin, the product of the Duchenne muscular dystrophy gene, was studied in human fetal skeletal muscle from 9 to 26 weeks of gestation at the Jerry Lewis Muscle Research Centre, Hammersmith Hospital, London.
J Gordon Millichap
openalex   +5 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   +3 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

Astrocyte proliferation in the hippocampal dentate gyrus is suppressed across the lifespan of dystrophin-deficient mdx mice. [PDF]

Exp Physiol
Abstract Absence of the structural protein, dystrophin, results in the neuromuscular disorder Duchenne Muscular Dystrophy (DMD). In addition to progressive skeletal muscle dysfunction, this multisystemic disorder can also result in cognitive deficits and behavioural changes that are likely to be consequences of dystrophin loss from central neurons and ...
Stephenson KA, Peters P, Rae MG, O'Malley D.   +3 more
europepmc   +2 more sources

Immunologic investigations into transgene directed immune-mediated myositis following delandistrogene moxeparvovec gene therapy. [PDF]

Sci Rep
Delandistrogene moxeparvovec is an rAAVrh74 vector-based gene transfer therapy that delivers a transgene encoding delandistrogene moxeparvovec micro-dystrophin, an engineered, functional form of dystrophin shown to stabilize or slow disease progression ...
Potter RA, Moeller IH, Khan S, Haegel H, Hollenstein A, Steiner G, Wandel C, Murphy AP, Asher DR, Palatinsky E, Griffin DA, Mason S, Iannaccone ST, Zaidman CM, Rodino-Klapac LR.   +14 more
europepmc   +2 more sources

Functions and Therapeutic Potentials of Long Noncoding RNA in Skeletal Muscle Atrophy and Dystrophy. [PDF]

J Cachexia Sarcopenia Muscle
ABSTRACT Skeletal muscle is the most abundant tissue in the human body and is responsible for movement, metabolism, energy production and longevity. Muscle atrophy is a frequent complication of several diseases and occurs when protein degradation exceeds protein synthesis.
Zhang Y, Wang T, Wang Z, Shi X, Jin J.
europepmc   +2 more sources

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

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

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

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