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 …

Eteplirsen in the treatment of Duchenne muscular dystrophy

KRQ Lim, R Maruyama, T Yokota - Drug design, development and …, 2017 - Taylor & Francis
Duchenne muscular dystrophy is a fatal neuromuscular disorder affecting around one in
3,500–5,000 male births that is characterized by progressive muscular deterioration. It is …

A high-coverage genome sequence from an archaic Denisovan individual

M Meyer, M Kircher, MT Gansauge, H Li, F Racimo… - Science, 2012 - science.org
We present a DNA library preparation method that has allowed us to reconstruct a high-
coverage (30×) genome sequence of a Denisovan, an extinct relative of Neandertals. The …

Dystrophin protects the sarcolemma from stresses developed during muscle contraction.

BJ Petrof, JB Shrager, HH Stedman, AM Kelly… - Proceedings of the …, 1993 - pnas.org
The protein dystrophin, normally found on the cytoplasmic surface of skeletal muscle cell
membranes, is absent in patients with Duchenne muscular dystrophy as well as mdx (X …

Duchenne muscular dystrophy: disease mechanism and therapeutic strategies

A Bez Batti Angulski, N Hosny, H Cohen… - Frontiers in …, 2023 - frontiersin.org
Duchenne muscular dystrophy (DMD) is a severe, progressive, and ultimately fatal disease
of skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy. The identification …

A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin

JM Ervasti, KP Campbell - The Journal of cell biology, 1993 - rupress.org
The dystrophin-glycoprotein complex was tested for interaction with several components of
the extracellular matrix as well as actin. The 156-kD dystrophin-associated glycoprotein (156 …

Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix

O Ibraghimov-Beskrovnaya, JM Ervasti, CJ Leveille… - Nature, 1992 - nature.com
The primary sequence of two components of the dystrophin–glycoprotein complex has been
established by complementary DNA cloning. The transmembrane 43K and extracellular …

Molecular physiology of cardiac repolarization

JM Nerbonne, RS Kass - Physiological reviews, 2005 - journals.physiology.org
The heart is a rhythmic electromechanical pump, the functioning of which depends on action
potential generation and propagation, followed by relaxation and a period of refractoriness …

Membrane repair: mechanisms and pathophysiology

ST Cooper, PL McNeil - Physiological reviews, 2015 - journals.physiology.org
Eukaryotic cells have been confronted throughout their evolution with potentially lethal
plasma membrane injuries, including those caused by osmotic stress, by infection from …

Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice

Y Zhou, C Zhang, W **ao, RW Herzog… - Nature Communications, 2024 - nature.com
Current gene therapy for Duchenne muscular dystrophy (DMD) utilizes adeno-associated
virus (AAV) to deliver micro-dystrophin (µDys), which does not provide full protection for …