Mutation-based therapeutic strategies for Duchenne muscular dystrophy: from genetic diagnosis to therapy

A Nakamura - Journal of personalized medicine, 2019 - mdpi.com
… in skeletal, cardiac, and smooth muscles as well as in the … converted phenotype following
exon skipping therapy due to … at the sarcolemma and improvements in skeletal muscle function. …

Complexity of skeletal muscle degeneration: Multi-systems pathophysiology and organ crosstalk in dystrophinopathy

K Ohlendieck, D Swandulla - Pflügers Archiv-European Journal of …, 2021 - Springer
… wasting disorder due to primary abnormalities in one of the … of the complex aetiology of
X-linked muscular dystrophy. This article … organisation ranging from genotype to phenotype [226]. …

Membrane adhesion junctions regulate airway smooth muscle phenotype and function

W Zhang, Y Wu, S J. Gunst - Physiological Reviews, 2023 - journals.physiology.org
… as electron-dense patches along the sarcolemma (FIGURE 1). … cells and induce changes in
ASM phenotypic expression that … ultimately lead to tissue remodeling and structural changes

Skeletal muscle: A review of molecular structure and function, in health and disease

K Mukund, S Subramaniam - Wiley Interdisciplinary Reviews …, 2020 - Wiley Online Library
… Satellite cells reside along the host muscle fiber, directly above the sarcolemma under …
phenotype is characterized by formation of gap junctions and the expression of α-smooth muscle

Skeletal muscle mitochondria dysfunction in genetic neuromuscular disorders with cardiac phenotype

E Ignatieva, N Smolina, A Kostareva… - International Journal of …, 2021 - mdpi.com
due to mutations that violate the structural and functional integrity … provide ATP needed for
repairing the sarcolemmal injury [49]. … in both striated and smooth muscle tissue, which forms a …

Dilated cardiomyopathy: from epidemiologic to genetic phenotypes: a translational review of current literature

D Reichart, C Magnussen, T Zeller… - Journal of internal …, 2019 - Wiley Online Library
… group which comprises structural and functional changes in the heart muscle due to a variety
… of the sarcolemma diminish the transmission for the force generated by muscle contraction. …

Re-examination of therapeutic management of muscular dystrophies using a vascular smooth muscle-centered approach

S Preethy, N Yamamoto, S Osaza… - … of Smooth Muscle …, 2023 - jstage.jst.go.jp
smooth muscle accelerates this process (24). The lack of structural support at the sarcolemma
leaves muscles … channel for the phenotypic maturation of smooth muscle cells, leading to …

Duchenne muscular dystrophy

D Duan, N Goemans, S Takeda, E Mercuri… - Nature Reviews …, 2021 - nature.com
… of protein translation, leading to non-functional and unstable … and/or functional defects
of a sarcolemmal protein owing to … Genotype–phenotype correlation studies have provided …

Role of airway smooth muscle in inflammation related to asthma and COPD

H Kume - Lung Inflammation in Health and Disease, Volume I, 2021 - Springer
… /proliferative ability (phenotype changes) are examined with … from SR close to the sarcolemma,
resulting in spontaneous … of smooth muscle cells, leading to smooth muscle relaxation via …

Therapeutic aspects of cell signaling and communication in Duchenne muscular dystrophy

A Starosta, P Konieczny - Cellular and Molecular Life Sciences, 2021 - Springer
phenotypic severity is due to mutations in the DMD gene, which result in the absence of
functional … to sarcolemma destabilization and muscle degradation. These effects are particularly …