Proteomic identification of markers of membrane repair, regeneration and fibrosis in the aged and dystrophic diaphragm

S Gargan, P Dowling, M Zweyer, M Henry, P Meleady… - Life, 2022 - mdpi.com
Deficiency in the membrane cytoskeletal protein dystrophin is the underlying cause of the
progressive muscle wasting disease named Duchenne muscular dystrophy. In order to …

Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy

DG Allen, NP Whitehead… - Physiological …, 2016 - journals.physiology.org
Dystrophin is a long rod-shaped protein that connects the subsarcolemmal cytoskeleton to a
complex of proteins in the surface membrane (dystrophin protein complex, DPC), with further …

Abnormal calcium handling in Duchenne muscular dystrophy: mechanisms and potential therapies

S Mareedu, ED Million, D Duan, GJ Babu - Frontiers in physiology, 2021 - frontiersin.org
Duchenne muscular dystrophy (DMD) is an X-linked muscle-wasting disease caused by the
loss of dystrophin. DMD is associated with muscle degeneration, necrosis, inflammation …

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; …

Proteomic profiling of the dystrophin complex and membrane fraction from dystrophic mdx muscle reveals decreases in the cytolinker desmoglein and increases in …

S Murphy, H Brinkmeier, M Krautwald, M Henry… - Journal of Muscle …, 2017 - Springer
The almost complete loss of the membrane cytoskeletal protein dystrophin and concomitant
drastic reduction in dystrophin-associated glycoproteins are the underlying mechanisms of …

How Can Proteomics Help to Elucidate the Pathophysiological Crosstalk in Muscular Dystrophy and Associated Multi-System Dysfunction?

P Dowling, C Trollet, E Negroni, D Swandulla… - Proteomes, 2024 - mdpi.com
This perspective article is concerned with the question of how proteomics, which is a core
technique of systems biology that is deeply embedded in the multi-omics field of modern …

The dystrophin node as integrator of cytoskeletal organization, lateral force transmission, fiber stability and cellular signaling in skeletal muscle

P Dowling, S Gargan, S Murphy, M Zweyer, H Sabir… - Proteomes, 2021 - mdpi.com
The systematic bioanalytical characterization of the protein product of the DMD gene, which
is defective in the pediatric disorder Duchenne muscular dystrophy, led to the discovery of …

Mass spectrometry-based identification of muscle-associated and muscle-derived proteomic biomarkers of dystrophinopathies

P Dowling, A Holland… - Journal of Neuromuscular …, 2014 - content.iospress.com
The optimization of large-scale screening procedures of pathological specimens by
genomic, proteomic and metabolic methods has drastically increased the bioanalytical …

Sparks, signals and shock absorbers: how dystrophin loss causes muscular dystrophy

CL Batchelor, SJ Winder - Trends in cell biology, 2006 - cell.com
The dystrophin–glycoprotein complex (DGC) can be considered as a specialized adhesion
complex, linking the extracellular matrix to the actin cytoskeleton, primarily in muscle cells …

Proteomic analysis of the sarcolemma-enriched fraction from dystrophic mdx-4cv skeletal muscle

S Murphy, M Zweyer, M Henry, P Meleady… - Journal of …, 2019 - Elsevier
The highly progressive neuromuscular disorder dystrophinopathy is triggered by primary
abnormalities in the Dmd gene, which causes cytoskeletal instability and loss of …