PLoS ONE, 2014 Duchenne muscular dystrophy (DMD) is characterized by the absence or reduced levels of dystrophin expression on the inner surface of the sarcolemmal membrane of muscle fibers.
Chantal Beekman +8 more
doaj +1 more source
The 6-minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. [PDF]
, 2013 IntroductionDuchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren.
Abresch, R Ted +12 more
core +2 more sources
Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing
Small, EarlyView.The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa +4 more
wiley +1 more source
Dystrophinopathy in the paravertebral muscle of adolescent idiopathic scoliosis: a prospective case-control study in China [PDF]
Asian Spine JournalStudy Design A prospective case-control study. Purpose This prospective case-control study aimed to analyze the paravertebral muscle changes in patients with adolescent idiopathic scoliosis (AIS) and determine paravertebral myopathological changes ...
Junyu Li +7 more
doaj +1 more source
Agrin-induced acetylcholine receptor clustering in mammalian muscle requires tyrosine phosphorylation. [PDF]
, 1996 Agrin is thought to be the nerve-derived factor that initiates acetylcholine receptor (AChR) clustering at the developing neuromuscularjunction. We have investigated the signaling pathway in mouse C2 myotubes and report that agrin induces a rapid but ...
Deiner, M, Ferns, M, Hall, Z
core
Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus [PDF]
, 1990 A basic problem in genetic counseling of families with Duchenne/Becker muscular dystrophy (DMD/BMD) concerns the carrier status of female relatives of an affected male. In about 60% of these patients, deletions of one or more exons of the dystrophin gene
G. J. B. van Ommen +6 more
core +1 more source
Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components
Small Methods, EarlyView.The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu +6 more
wiley +1 more source
Murine obscurin and Obsl1 have functionally redundant roles in sarcolemmal integrity, sarcoplasmic reticulum organization, and muscle metabolism. [PDF]
, 2019 Biological roles of obscurin and its close homolog Obsl1 (obscurin-like 1) have been enigmatic. While obscurin is highly expressed in striated muscles, Obsl1 is found ubiquitously.
Blondelle, Jordan +13 more
core +1 more source
Coordinated actions of microRNAs with other epigenetic factors regulate skeletal muscle development and adaptation [PDF]
, 2017 Epigenetics plays a pivotal role in regulating gene expression in development, in response to cellular stress or in disease states, in virtually all cell types.
Adamo, Sergio +3 more
core +1 more source
Developmental Medicine &Child Neurology, EarlyView.The analysis of height, weight, and BMI z‐score trajectories in boys with DMD from the FOR‐DMD study showed that higher baseline height was associated with slower subsequent growth, and older age with greater weight gain after glucocorticoid initiation.
Marianela Schiava +71 more
wiley +1 more source