Pathophysiology of Duchenne Muscular Dystrophy: Current Hypotheses
Nicolas Deconinck,Bernard Dan +1 more
Reads0
Chats0
TLDR
Because no etiologic therapy is available for Duchenne muscular dystrophy, a better understanding of the primary and downstream mechanisms could prove useful for producing new adjuvant treatments.About:
This article is published in Pediatric Neurology.The article was published on 2007-01-01 and is currently open access. It has received 413 citations till now. The article focuses on the topics: Duchenne muscular dystrophy & Muscular dystrophy.read more
Citations
More filters
Journal ArticleDOI
Corticosteroids for the treatment of Duchenne muscular dystrophy.
TL;DR: The effects of corticosteroids on prolongation of walking ability, muscle strength, functional ability, and quality of life in DMD are assessed to address the question of whether benefit is maintained over the longer term (more than two years); to assess adverse events.
Journal ArticleDOI
Duchenne muscular dystrophy
TL;DR: The use of corticosteroids, non‐invasive respiratory support, and active surveillance and management of associated complications have improved ambulation, function, quality of life and life expectancy in Duchenne muscular dystrophy.
Journal ArticleDOI
Protein O-mannosylation: conserved from bacteria to humans.
Mark Lommel,Sabine Strahl +1 more
TL;DR: Observations that have opened up the field are summarized and characteristics of O-mannosylation in the different domains/kingdoms of life are highlighted.
Journal ArticleDOI
Mitigation of muscular dystrophy in mice by SERCA overexpression in skeletal muscle
Sanjeewa A. Goonasekera,Chi Keung Lam,Douglas P. Millay,Michelle A. Sargent,Roger J. Hajjar,Evangelia G. Kranias,Jeffery D. Molkentin +6 more
TL;DR: It is shown that the dystrophic phenotype observed in δ-sarcoglycan–null mice and dystrophin mutant mdx mice is dramatically improved by skeletal muscle–specific overexpression of sarcoplasmic reticulum Ca(2+) ATPase 1 (SERCA1).
Journal ArticleDOI
Recombinant MG53 Protein Modulates Therapeutic Cell Membrane Repair in Treatment of Muscular Dystrophy
Noah Weisleder,Norio Takizawa,Pei-Hui Lin,Xianhua Wang,Chun-Mei Cao,Yan Zhang,Tao Tan,Christopher Ferrante,Hua Zhu,Pin-Jung Chen,Rosalie Yan,Matthew Sterling,Xiaoli Zhao,Moonsun Hwang,Miyuki Takeshima,Chuanxi Cai,Heping Cheng,Hiroshi Takeshima,Rui-Ping Xiao,Jianjie Ma +19 more
TL;DR: The data support the concept of targeted cell membrane repair in regenerative medicine, and present MG53 protein as an attractive biological reagent for restoration of membrane repair defects in human diseases.
References
More filters
Journal ArticleDOI
Dystrophin protects the sarcolemma from stresses developed during muscle contraction.
TL;DR: It is demonstrated that dystrophin-deficient muscle fibers of the mdx mouse exhibit an increased susceptibility to contraction-induced sarcolemmal rupture, which strongly support the proposition that the primary function of dyStrophin is to provide mechanical reinforcement to the sarcolemma and thereby protect it from the membrane stresses developed during muscle contraction.
Journal ArticleDOI
Targeted disruption of the neuronal nitric oxide synthase gene
TL;DR: The most evident effect of disrupting the neuronal NOS gene is the development of grossly enlarged stomachs, with hypertrophy of the pyloric sphincter and the circular muscle layer.
Journal ArticleDOI
Nitric oxide in skeletal muscle
TL;DR: It is shown that rat skeletal muscle expresses neuronal-type NO synthase and that activity varies among several respiratory and limb muscles, and that two physiological functions of NO in skeletal muscle are supported.
Journal ArticleDOI
Nitric oxide synthase complexed with dystrophin and absent from skeletal muscle sarcolemma in Duchenne muscular dystrophy.
TL;DR: In this paper, it was shown that dystrophin complex interacts with an N-terminal domain of nNOS that contains a GLGF motif, which may contribute to preferential degeneration of fast-twitch muscle fibers in Duchenne muscular dystrophy.
Journal ArticleDOI
Calcium Ion in Skeletal Muscle: Its Crucial Role for Muscle Function, Plasticity, and Disease
TL;DR: Functional alterations of Ca(2+) handling seem to be responsible for the pathophysiological conditions seen in dystrophinopathies, Brody's disease, and malignant hyperthermia, which underline the importance of the affected molecules for correct muscle performance.