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 …

Disrupted calcium homeostasis in duchenne muscular dystrophy: A common mechanism behind diverse consequences

B Zabłocka, DC Górecki, K Zabłocki - International Journal of Molecular …, 2021 - mdpi.com
Duchenne muscular dystrophy (DMD) leads to disability and death in young men. This
disease is caused by mutations in the DMD gene encoding diverse isoforms of dystrophin …

Emerging proteomic biomarkers of X-linked muscular dystrophy

P Dowling, S Murphy, M Zweyer… - Expert Review of …, 2019 - Taylor & Francis
Introduction: Progressive skeletal muscle wasting is the manifesting symptom of Duchenne
muscular dystrophy, an X-linked inherited disorder triggered by primary abnormalities in the …

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 …

Proteomics of the dystrophin-glycoprotein complex and dystrophinopathy

A Holland, S Carberry… - Current Protein and …, 2013 - ingentaconnect.com
The largest human gene is represented by the X-chromosomal dystrophin gene of 2.4
million bases, which encodes for the membrane cytoskeletal protein dystrophin. The …

Simultaneous Pathoproteomic Evaluation of the Dystrophin-Glycoprotein Complex and Secondary Changes in the mdx-4cv Mouse Model of Duchenne Muscular …

S Murphy, M Henry, P Meleady, M Zweyer… - Biology, 2015 - mdpi.com
In skeletal muscle, the dystrophin-glycoprotein complex forms a membrane-associated
assembly of relatively low abundance, making its detailed proteomic characterization in …

Concurrent Label-Free Mass Spectrometric Analysis of Dystrophin Isoform Dp427 and the Myofibrosis Marker Collagen in Crude Extracts from mdx-4cv Skeletal …

S Murphy, M Zweyer, RR Mundegar, M Henry… - Proteomes, 2015 - mdpi.com
The full-length dystrophin protein isoform of 427 kDa (Dp427), the absence of which
represents the principal abnormality in X-linked muscular dystrophy, is difficult to identify and …

Mass spectrometric identification of dystrophin, the protein product of the Duchenne muscular dystrophy gene, in distinct muscle surface membranes

S Murphy, K Ohlendieck - International Journal of …, 2017 - spandidos-publications.com
Supramolecular membrane complexes of low abundance are difficult to study by routine
bioanalytical techniques. The plasmalemmal complex consisting of sarcoglycans …

Proteomic profiling of x-linked muscular dystrophy

C Lewis, S Carberry, K Ohlendieck - Journal of Muscle Research and Cell …, 2009 - Springer
Progressive x-linked muscular dystrophy represents the most commonly inherited
neuromuscular disorder in humans. Although the disintegration of the dystrophin-associated …

Histopathology of Duchenne muscular dystrophy in correlation with changes in proteomic biomarkers

M Zweyer, H Sabir, P Dowling, S Gargan, S Murphy… - 2022 - digitum.um.es
Duchenne muscular dystrophy is an inherited disorder of early childhood that affects
multiple systems in the body. Besides late-onset cardio-respiratory syndrome and various …