Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

E Tambuyzer, B Vandendriessche, CP Austin… - Nature Reviews Drug …, 2020 - nature.com
Most rare diseases still lack approved treatments despite major advances in research
providing the tools to understand their molecular basis, as well as legislation providing …

Therapeutic approaches for Duchenne muscular dystrophy

TC Roberts, MJA Wood, KE Davies - Nature Reviews Drug Discovery, 2023 - nature.com
Duchenne muscular dystrophy (DMD) is a monogenic muscle-wasting disorder and a
priority candidate for molecular and cellular therapeutics. Although rare, it is the most …

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 …

The pathogenesis and therapy of muscular dystrophies

S Guiraud, A Aartsma-Rus, NM Vieira… - Annual review of …, 2015 - annualreviews.org
Current molecular genomic approaches to human genetic disorders have led to an
explosion in the identification of the genes and their encoded proteins responsible for these …

[PDF][PDF] Muscle damage in mdx (dystrophic) mice: role of calcium and reactive oxygen species.

NP Whitehead, EW Yeung, DG Allen - 2005 - academia.edu
Muscle damage in mdx (dystrophic) mice: The role of calcium and reactive oxygen species
Page 1 Proceedings of the Australian Physiological Society (2005) 36: 111-117 http://www.aups.org.au/Proceedings/36/111-117 …

Dystrophic heart failure blocked by membrane sealant poloxamer

S Yasuda, DW Townsend, DE Michele, EG Favre… - Nature, 2005 - nature.com
Dystrophin deficiency causes Duchenne muscular dystrophy (DMD) in humans, an inherited
and progressive disease of striated muscle deterioration that frequently involves …

[HTML][HTML] Current status of pharmaceutical and genetic therapeutic approaches to treat DMD

C Pichavant, A Aartsma-Rus, PR Clemens, KE Davies… - Molecular Therapy, 2011 - cell.com
Duchenne muscular dystrophy (DMD) is a genetic disease affecting about one in every
3,500 boys. This X-linked pathology is due to the absence of dystrophin in muscle fibers …

Effects of stretch‐activated channel blockers on [Ca2+]i and muscle damage in the mdx mouse

EW Yeung, NP Whitehead, TM Suchyna… - The Journal of …, 2005 - Wiley Online Library
The mdx mouse lacks dystrophin and is a model of human Duchenne muscular dystrophy.
Single mdx muscle fibres were isolated and subjected to a series of stretched (eccentric) …

[图书][B] Handbook of laboratory animal science: Animal Models, Volume III

J Hau, SJ Schapiro, GL Van Hoosier Jr - 2004 - taylorfrancis.com
Building upon the success of the Handbook of Laboratory Animal Science and completing
Volumes I and II of the Second Edition, Handbook of Laboratory Animal Science, Second …

Duchenne's muscular dystrophy: animal models used to investigate pathogenesis and develop therapeutic strategies

CA Collins, JE Morgan - International journal of experimental …, 2003 - Wiley Online Library
Duchenne's muscular dystrophy (DMD) is a lethal childhood disease caused by mutations of
the dystrophin gene, the protein product of which, dystrophin, has a vital role in maintaining …