Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function

G Eraslan, E Drokhlyansky, S Anand, E Fiskin… - Science, 2022 - science.org
Understanding gene function and regulation in homeostasis and disease requires
knowledge of the cellular and tissue contexts in which genes are expressed. Here, we …

Extracellular Matrix Proteomics: The mdx-4cv Mouse Diaphragm as a Surrogate for Studying Myofibrosis in Dystrophinopathy

P Dowling, S Gargan, M Zweyer, D Swandulla… - Biomolecules, 2023 - mdpi.com
The progressive degeneration of the skeletal musculature in Duchenne muscular dystrophy
is accompanied by reactive myofibrosis, fat substitution, and chronic inflammation. Fibrotic …

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 …

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 …

[HTML][HTML] The 2022 On-site Padua Days on Muscle and Mobility Medicine hosts the University of Florida Institute of Myology and the Wellstone Center, March 30-April 3 …

HL Sweeney, S Masiero, U Carraro - European Journal of …, 2022 - ncbi.nlm.nih.gov
In the autumn of 2021, the 2022 Padua Days of Muscle and Mobility Medicine (PDM3) was
planned to be held from March 30 to April 2, 2022. Despite the fact that Coronavirus COVID …

[HTML][HTML] Synaptic alterations as a neurodevelopmental trait of Duchenne muscular dystrophy

ME De Stefano, V Ferretti, C Mozzetta - Neurobiology of Disease, 2022 - Elsevier
Dystrophinopaties, eg, Duchenne muscular dystrophy (DMD), Becker muscular dystrophy
and X-linked dilated cardiomyopathy are inherited neuromuscular diseases, characterized …

P2 receptor signaling in motor units in muscular dystrophy

AE Khairullin, SN Grishin, AU Ziganshin - International Journal of …, 2023 - mdpi.com
The purine signaling system is represented by purine and pyrimidine nucleotides and
nucleosides that exert their effects through the adenosine, P2X and P2Y receptor families. It …

Biochemical and proteomic insights into sarcoplasmic reticulum Ca2+-ATPase complexes in skeletal muscles

P Dowling, D Swandulla… - Expert Review of …, 2023 - Taylor & Francis
Introduction Skeletal muscles contain large numbers of high-molecular-mass protein
complexes in elaborate membrane systems. Integral membrane proteins are involved in …

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 …

Proteomic profiling of carbonic anhydrase CA3 in skeletal muscle

P Dowling, S Gargan, M Zweyer, H Sabir… - Expert Review of …, 2021 - Taylor & Francis
Introduction Carbonic anhydrase (CA) is a key enzyme that mediates the reversible
hydration of carbon dioxide. Skeletal muscles contain high levels of the cytosolic isoform …