Frontiers in Pharmacology, 2018 Duchenne muscular dystrophy (DMD) is a recessive X-linked form of muscular dystrophy characterized by progressive muscle degeneration. This disease is caused by the mutation or deletion of the dystrophin gene. Currently, there are no effective treatments
Tsubasa Kameyama +20 more
doaj +1 more source
Improving translational studies: lessons from rare neuromuscular diseases [PDF]
, 2015 Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core +3 more sources
The Journal of Cell Biology, 2002 ![Graphic][1] Utrophin (green) can bind to actin (light blue) in two different modes.Utrophin, a member of the spectrin superfamily of actin-binding proteins ubiquitously expressed in human cells, helps link the actin cytoskeleton to the extracellular matrix. Galkin et al.
openaire +2 more sources
Molecular heterogeneity of the dystrophin-associated protein complex in the mouse kidney nephron: differential alterations in the absence of utrophin and dystrophin [PDF]
, 2018 The dystrophin-associated protein complex (DPC) consisting of syntrophin, dystrobrevin, and dystroglycan isoforms is associated either with dystrophin or its homolog utrophin.
Fritschy, Jean-Marc +2 more
core
Regenerative biomarkers for Duchenne muscular dystrophy
Neural Regeneration Research, 2019 Skeletal muscle has an extraordinary capacity to regenerate after injury and trauma. The muscle repair mechanism is a complex process orchestrated by multiple steps.
Simon Guiraud, Kay E Davies
doaj +1 more source
Utrophin is lacking at the neuromuscular junctions in the extraocular muscles of normal cat: artefact or true? [PDF]
, 2018 Extraocular muscles (EOM) are typically spared in Duchenne muscular dystrophy. We hypothesized that this might be due to different patterns of utrophin expression.
Assadi, Maziar, Müntener, Markus
core
A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy [PDF]
, 2017 K
Ajzner, Éva +8 more
core +1 more source
Biglycan : a multivalent proteoglycan providing structure and signals [PDF]
, 2013 Research over the past few years has provided fascinating results indicating that biglycan, besides being a ubiquitous structural component of the extracellular matrix (ECM), may act as a signaling molecule.
Năstase, Mădălina-Viviana +2 more
core
MicroRNAs modulated by local mIGF-1 expression in mdx dystrophic mice [PDF]
, 2015 Duchenne muscular dystrophy (DMD) is a X-linked genetic disease in which the absence of dystrophin leads to progressive lethal skeletal muscle degeneration.
Coggi, Angela +3 more
core +2 more sources
256. An Ideal Therapeutic Agent for Duchenne Muscular Dystrophy Involving a Gutted Adenovirus Expressing Full-Length Utrophin [PDF]
, 2005 openalex +1 more source