Circulating biomarkers in neuromuscular disorders: what is known, what is new

A Barp, A Ferrero, S Casagrande, R Morini… - Biomolecules, 2021 - mdpi.com
The urgent need for new therapies for some devastating neuromuscular diseases (NMDs),
such as Duchenne muscular dystrophy or amyotrophic lateral sclerosis, has led to an …

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 …

Modulating fast skeletal muscle contraction protects skeletal muscle in animal models of Duchenne muscular dystrophy

AJ Russell, M DuVall, B Barthel, Y Qian… - The Journal of …, 2023 - Am Soc Clin Investig
Duchenne muscular dystrophy (DMD) is a lethal muscle disease caused by absence of the
protein dystrophin, which acts as a structural link between the basal lamina and contractile …

[HTML][HTML] Forever chemicals don't make hero mutant ninja turtles: Elevated PFAS levels linked to unusual scute development in newly emerged freshwater turtle …

DJ Beale, D Limpus, G Sinclair, U Bose… - Science of the Total …, 2024 - Elsevier
Per-and polyfluoroalkyl substances (PFAS) are persistent environmental contaminants
known to pose significant risks to human and wildlife health. Freshwater turtles (Emydura …

Biological biomarkers in muscle diseases relevant for follow-up and evaluation of treatment

MG Stemmerik, G Tasca, NE Gilhus, L Servais, A Vicino… - Brain, 2024 - academic.oup.com
Muscle diseases cover a diverse group of disorders that, in most cases, are hereditary. The
rarity of the individual muscle diseases provides a challenge for researchers when wanting …

N-terminal titin fragment: a non-invasive, pharmacodynamic biomarker for microdystrophin efficacy

JF Boehler, KJ Brown, V Ricotti, CA Morris - Skeletal Muscle, 2024 - Springer
Background Multiple clinical trials to assess the efficacy of AAV-directed gene transfer in
participants with Duchenne muscular dystrophy (DMD) are ongoing. The success of these …

The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls

F Magri, L Napoli, M Ripolone, P Ciscato… - International Journal of …, 2023 - mdpi.com
Limb girdle muscular dystrophies (LGMDs) are a group of genetically inherited
neuromuscular diseases with a very variable clinical presentation and overlapping traits …

Longitudinal assessment of blood-borne musculoskeletal disease biomarkers in the DE50-MD dog model of Duchenne muscular dystrophy

DO Riddell, JCW Hildyard, RCM Harron… - Wellcome Open …, 2022 - pmc.ncbi.nlm.nih.gov
Background: Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease
caused by mutations in the dystrophin gene. Due to their phenotypic similarity to human …

Eccentric contraction-induced strength loss in dystrophin-deficient muscle: Preparations, protocols, and mechanisms

L Kiriaev, CW Baumann, A Lindsay - Journal of General Physiology, 2023 - rupress.org
The absence of dystrophin hypersensitizes skeletal muscle of lower and higher vertebrates
to eccentric contraction (ECC)-induced strength loss. Loss of strength can be accompanied …

Troponins and Skeletal Muscle Pathologies

AP Bogomolova, IA Katrukha - Biochemistry (Moscow), 2024 - Springer
Abstract Skeletal muscles account for~ 30-40% of the total weight of human body and are
responsible for its most important functions, including movement, respiration …