Caveolae are vesicular invaginations of the plasma membrane, and function as 'message centers' for regulating signal transduction events. Caveolin-3, a muscle-specific caveolin-related protein, is the principal structural protein of caveolar membrane domains in skeletal muscle and in the heart. Several mutations within the coding sequence of the human caveolin-3 gene (located at 3p25) have been identified. Mutations that lead to a loss of approximately 95% of caveolin-3 protein expression are responsible for a novel autosomal dominant form of limb-girdle muscular dystrophy (LGMD-1C) in humans. By contrast, upregulation of the caveolin-3 protein is associated with Duchenne muscular dystrophy (DMD). Thus, tight regulation of caveolin-3 appears essential for maintaining normal muscle health and homeostasis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s1471-4914(01)02105-0 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Atrial Fibrillation and Flutter in a Contemporary Cohort of Patients With Myotonic Muscular Dystrophy.
JACC Clin Electrophysiol
January 2025
Section of Cardiac Electrophysiology, Cardiovascular Medicine Division, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Background: Literature on the prevalence and management of atrial arrhythmias in patients with myotonic muscular dystrophy type 1 (MMD1) or myotonic muscular dystrophy type 2 (MMD2) is limited.
Objectives: This study sought to describe incidence, prevalence, and predictors of atrial fibrillation (AF) and atrial flutter (AFL) in a contemporary cohort of patients with myotonic muscular dystrophy (MMD).
Methods: Associations between patient factors and incident AF/AFL were analyzed in patients with MMD referred for routine electrophysiology evaluation between January 2013 and September 2023.
Evaluation of Creatine Monohydrate Supplementation on the Gastrocnemius Muscle of Mice with Muscular Dystrophy: A Preliminary Study.
Pathophysiology
January 2025
Postgraduate Program in Health Sciences, Faculty of Medicine of Jundiaí (FMJ), Jundiaí 13202-550, Brazil.
Duchenne muscular dystrophy (DMD) is a genetic disease characterized by a lack of dystrophin caused by mutations in the DMD gene, and some minor cases are due to decreased levels of dystrophin, leading to muscle weakness and motor impairment. Creatine supplementation has demonstrated several benefits for the muscle, such as increased strength, enhanced tissue repair, and improved ATP resynthesis. This preliminary study aimed to investigate the effects of creatine on the gastrocnemius muscle in dystrophy muscle (MDX) and healthy C57BL/10 mice.
View Article and Find Full Text PDFIncidence of Radiologically Confirmed Fractures in Adults With Duchenne Muscular Dystrophy.
Muscle Nerve
January 2025
Bone, Endocrine, Nutrition Research Group in Glasgow, Human Nutrition, University of Glasgow, Glasgow, UK.
Introduction/aims: An increased risk of low trauma fractures is well documented in children and adolescents with duchenne muscular dystrophy (DMD). There is limited evidence regarding the fracture incidence of adults with DMD. The aim of this study was to examine radiologically confirmed fractures in adults with DMD and review bone health monitoring.
View Article and Find Full Text PDFTissue-specific modulation of CRISPR activity by miRNA-sensing guide RNAs.
Nucleic Acids Res
January 2025
Department of Paediatrics, University of Oxford, OX3 7TY Oxford, United Kingdom.
Nucleic acid nanostructures offer unique opportunities for biomedical applications due to their sequence-programmable structures and functions, which enable the design of complex responses to molecular cues. Control of the biological activity of therapeutic cargoes based on endogenous molecular signatures holds the potential to overcome major hurdles in translational research: cell specificity and off-target effects. Endogenous microRNAs (miRNAs) can be used to profile cell type and cell state, and are ideal inputs for RNA nanodevices.
View Article and Find Full Text PDFRapid and scalable personalized ASO screening in patient-derived organoids.
Nature
January 2025
Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.
Personalized antisense oligonucleotides (ASOs) have achieved positive results in the treatment of rare genetic disease. As clinical sequencing technologies continue to advance, the ability to identify patients with rare disease harbouring pathogenic genetic variants amenable to this therapeutic strategy will probably improve. Here we describe a scalable platform for generating patient-derived cellular models and demonstrate that these personalized models can be used for preclinical evaluation of patient-specific ASOs.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!