Uniform sarcolemmal dystrophin expression is required to prevent extracellular microRNA release and improve dystrophic pathology
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Cachexia, Sarcopenia and Muscle"
DOI: 10.1002/jcsm.12506
Abstract: Duchenne muscular dystrophy (DMD) is a fatal muscle‐wasting disorder caused by genetic loss of dystrophin protein. Extracellular microRNAs (ex‐miRNAs) are putative, minimally invasive biomarkers of DMD. Specific ex‐miRNAs (e.g. miR‐1, miR‐133a, miR‐206, and miR‐483) are… read more here.
Keywords: sarcolemmal dystrophin; expression required; pathology; expression ... See more keywords
What is the level of dystrophin expression required for effective therapy of Duchenne muscular dystrophy?
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Muscle Research and Cell Motility"
DOI: 10.1007/s10974-019-09535-9
Abstract: Duchenne muscular dystrophy (DMD) is a fatal X-linked muscle wasting disease. The disease is due to mutations in the DMD gene that encodes for a large intracellular protein called dystrophin. Dystrophin plays a critical role… read more here.
Keywords: effective therapy; muscle; muscular dystrophy; expression required ... See more keywords
Uniform low-level dystrophin expression in the heart partially preserved cardiac function in an aged mouse model of Duchenne cardiomyopathy.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of molecular and cellular cardiology"
DOI: 10.1016/j.yjmcc.2016.11.011
Abstract: Dystrophin deficiency results in Duchenne cardiomyopathy, a primary cause of death in Duchenne muscular dystrophy (DMD). Gene therapy has shown great promise in ameliorating the cardiac phenotype in mouse models of DMD. However, it is… read more here.
Keywords: heart; level; expression; dystrophin expression ... See more keywords
DMD carrier model with mosaic dystrophin expression in the heart reveals complex vulnerability to myocardial injury.
Sign Up to like & getrecommendations! Published in 2020 at "Human molecular genetics"
DOI: 10.1093/hmg/ddaa015
Abstract: Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disease that causes progressive muscle wasting and cardiomyopathy. This X-linked disease results from the mutations of the DMD allele on the X-chromosome resulting in the loss of… read more here.
Keywords: dmd; heart; carrier; expression ... See more keywords
Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression
Sign Up to like & getrecommendations! Published in 2021 at "EMBO Molecular Medicine"
DOI: 10.15252/emmm.202013228
Abstract: Tandem duplication mutations are increasingly found to be the direct cause of many rare heritable diseases, accounting for up to 10% of cases. Unfortunately, animal models recapitulating such mutations are scarce, limiting our ability to… read more here.
Keywords: genome editing; duplication; targeted genome; tandem duplication ... See more keywords
Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.859930
Abstract: Duchenne muscular dystrophy (DMD) is an X-linked hereditary disease characterized by progressive muscle wasting due to modifications in the DMD gene (exon deletions, nonsense mutations, intra-exonic insertions or deletions, exon duplications, splice site defects, and… read more here.
Keywords: duchenne muscular; therapeutic strategies; muscular dystrophy; dystrophin expression ... See more keywords
Downregulation of Dystrophin Expression Occurs across Diverse Tumors, Correlates with the Age of Onset, Staging and Reduced Survival of Patients
Sign Up to like & getrecommendations! Published in 2022 at "Cancers"
DOI: 10.3390/cancers15051378
Abstract: Mutations of the DMD gene, encoding dystrophins, cause Duchenne muscular dystrophy (DMD). Some tumors also display altered dystrophin expression and recent studies identified a developmental onset of DMD. Given that embryogenesis and carcinogenesis share many… read more here.
Keywords: dystrophin expression; dmd expression; onset; expression ... See more keywords