[HTML][HTML] The Dystrophin Complex: structure, function and implications for therapy

Q Gao, EM McNally - Comprehensive physiology, 2015 - ncbi.nlm.nih.gov
The dystrophin complex stabilizes the plasma membrane of striated muscle cells. Loss of
function mutations in the genes encoding dystrophin, or the associated proteins, triggers …

Gene therapy for Duchenne muscular dystrophy

N Elangkovan, G Dickson - Journal of neuromuscular …, 2021 - content.iospress.com
Duchenne muscular dystrophy (DMD) is an X-linked, muscle wasting disease that affects 1
in 5000 males. Affected individuals become wheelchair bound by the age of twelve and …

Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy

L Amoasii, JCW Hildyard, H Li, E Sanchez-Ortiz… - Science, 2018 - science.org
Mutations in the gene encoding dystrophin, a protein that maintains muscle integrity and
function, cause Duchenne muscular dystrophy (DMD). The deltaE50-MD dog model of DMD …

The extracellular matrix protein agrin promotes heart regeneration in mice

E Bassat, YE Mutlak, A Genzelinakh, IY Shadrin… - Nature, 2017 - nature.com
The adult mammalian heart is non-regenerative owing to the post-mitotic nature of
cardiomyocytes. The neonatal mouse heart can regenerate, but only during the first week of …

Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy

C Long, L Amoasii, AA Mireault, JR McAnally, H Li… - Science, 2016 - science.org
CRISPR/Cas9-mediated genome editing holds clinical potential for treating genetic
diseases, such as Duchenne muscular dystrophy (DMD), which is caused by mutations in …

Muscle-specific CRISPR/Cas9 dystrophin gene editing ameliorates pathophysiology in a mouse model for Duchenne muscular dystrophy

NE Bengtsson, JK Hall, GL Odom, MP Phelps… - Nature …, 2017 - nature.com
Gene replacement therapies utilizing adeno-associated viral (AAV) vectors hold great
promise for treating Duchenne muscular dystrophy (DMD). A related approach uses AAV …

Molecular and cellular basis of genetically inherited skeletal muscle disorders

JJ Dowling, CC Weihl, MJ Spencer - Nature Reviews Molecular Cell …, 2021 - nature.com
Neuromuscular disorders comprise a diverse group of human inborn diseases that arise
from defects in the structure and/or function of the muscle tissue—encompassing the muscle …

Orienting muscle stem cells for regeneration in homeostasis, aging, and disease

P Feige, CE Brun, M Ritso, MA Rudnicki - Cell stem cell, 2018 - cell.com
Muscle stem cells, or satellite cells, are required for skeletal muscle maintenance, growth,
and repair. Following satellite cell activation, several factors drive asymmetric cell division to …

The jam session between muscle stem cells and the extracellular matrix in the tissue microenvironment

M Loreti, A Sacco - NPJ Regenerative medicine, 2022 - nature.com
Skeletal muscle requires a highly orchestrated coordination between multiple cell types and
their microenvironment to exert its function and to maintain its homeostasis and regenerative …

Single-cut genome editing restores dystrophin expression in a new mouse model of muscular dystrophy

L Amoasii, C Long, H Li, AA Mireault… - Science translational …, 2017 - science.org
Duchenne muscular dystrophy (DMD) is a severe, progressive muscle disease caused by
mutations in the dystrophin gene. The majority of DMD mutations are deletions that …