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

K Ohlendieck, D Swandulla - Pflügers Archiv-European Journal of …, 2021 - Springer
Duchenne muscular dystrophy is a highly progressive muscle wasting disorder due to
primary abnormalities in one of the largest genes in the human genome, the DMD gene …

Function and genetics of dystrophin and dystrophin-related proteins in muscle

DJ Blake, A Weir, SE Newey… - Physiological …, 2002 - journals.physiology.org
The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations
in the gene encoding dystrophin. There is currently no effective treatment for the disease; …

Understanding dystrophinopathies: an inventory of the structural and functional consequences of the absence of dystrophin in muscles of the mdx mouse

JM Gillis - Journal of Muscle Research & Cell Motility, 1999 - Springer
Duchenne muscular dystrophy is a very severe disease which affects the skeletal
musculature in human patients. It produces muscle wasting. Necrotic fibres are partially …

Role of dystrophin isoforms and associated proteins in muscular dystrophy

KG Culligan, AJ Mackey, DM Finn… - International …, 1998 - spandidos-publications.com
The membrane cytoskeletal component dystrophin and its associated glycoproteins play a
central role in the molecular pathogenesis of several muscular dystrophies, ie …

Duchenne muscular dystrophy: pathogenesis and promising therapies

M Chang, Y Cai, Z Gao, X Chen, B Liu, C Zhang… - Journal of …, 2023 - Springer
Duchenne muscular dystrophy (DMD) is a severe, progressive, muscle-wasting disease,
characterized by progressive deterioration of skeletal muscle that causes rapid loss of …

Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure

JA Rafael, ER Townsend, SE Squire… - Human molecular …, 2000 - academic.oup.com
The X-linked muscle wasting disease Duchenne muscular dystrophy is caused by the lack of
dystrophin in muscle. Protein structure predictions, patient mutations, in vitro binding studies …

[HTML][HTML] Structure and function of the dystrophin-glycoprotein complex

JM Ervasti - Madame curie bioscience database [Internet], 2013 - ncbi.nlm.nih.gov
Duchenne muscular dystrophy (DMD) is the most prevalent and severe form of human
muscular dystrophy. While clinical descriptions of DMD date back to the 1850's, over 100 …

Characterization of a Dmd EGFP reporter mouse as a tool to investigate dystrophin expression

MV Petkova, S Morales-Gonzales, K Relizani, E Gill… - Skeletal muscle, 2016 - Springer
Background Dystrophin is a rod-shaped cytoplasmic protein that provides sarcolemmal
stability as a structural link between the cytoskeleton and the extracellular matrix via the …

Proteomic profiling of impaired excitation–contraction coupling and abnormal calcium handling in muscular dystrophy

P Dowling, S Gargan, D Swandulla, K Ohlendieck - Proteomics, 2022 - Wiley Online Library
The X‐linked inherited neuromuscular disorder Duchenne muscular dystrophy is
characterised by primary abnormalities in the membrane cytoskeletal component dystrophin …

Identification of altered gene expression in skeletal muscles from Duchenne muscular dystrophy patients

AV Tkatchenko, G Piétu, N Cros, L Gannoun-Zaki… - Neuromuscular …, 2001 - Elsevier
Mutations in the dystrophin gene lead to dystrophin deficiency, which is the cause of
Duchenne muscular dystrophy (DMD). This important discovery more than 10 years ago …