Gene therapy for Duchenne muscular dystrophy

N Elangkovan, G Dickson - Journal of neuromuscular …, 2021 - content.iospress.com
Duchenne muscular dystrophy (DMD) is an X-linked, muscle wasting disease that affects 1
in 5000 males. Affected individuals become wheelchair bound by the age of twelve and …

RNA-based therapeutics for neurological diseases

K Anthony - RNA biology, 2022 - Taylor & Francis
ABSTRACT RNA-based therapeutics have entered the mainstream with seemingly limitless
possibilities to treat all categories of neurological disease. Here, common RNA-based drug …

Small angle X-ray diffraction as a tool for structural characterization of muscle disease

W Ma, TC Irving - International Journal of Molecular Sciences, 2022 - mdpi.com
Small angle X-ray fiber diffraction is the method of choice for obtaining molecular level
structural information from striated muscle fibers under hydrated physiological conditions …

Troponin variants as markers of skeletal muscle health and diseases

M Rasmussen, JP Jin - Frontiers in physiology, 2021 - frontiersin.org
Ca2+-regulated contractility is a key determinant of the quality of muscles. The sarcomeric
myofilament proteins are essential players in the contraction of striated muscles. The …

Therapeutic approaches in different congenital myopathies

C Gineste, J Laporte - Current Opinion in Pharmacology, 2023 - Elsevier
Congenital myopathies are rare and severe genetic diseases affecting the skeletal muscle
function in children and adults. They present a variable spectrum of phenotypes and a …

Next steps for the optimization of exon therapy for Duchenne muscular dystrophy

G Filonova, A Aartsma-Rus - Expert Opinion on Biological Therapy, 2023 - Taylor & Francis
Introduction It is established that the exon-skipping approach can restore dystrophin in
Duchenne muscular dystrophy (DMD) patients. However, dystrophin restoration levels are …

Cardiac therapies for Duchenne muscular dystrophy

MNA Shah, T Yokota - Therapeutic Advances in …, 2023 - journals.sagepub.com
Duchenne muscular dystrophy (DMD) is a devastating disease that results in life-limiting
complications such as loss of skeletal muscle function as well as respiratory and cardiac …

RNA-seq reveals sex differences in gene expression during peripheral neuropathic inflammation and in pain relief from a COX-2 inhibiting theranostic nanoemulsion

B Deal, K Phillips, C Crelli, JM Janjic… - International Journal of …, 2023 - mdpi.com
Given decades of neuroinflammatory pain research focused only on males, there is an
urgent need to better understand neuroinflammatory pain in females. This, paired with the …

Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease

S Donkervoort, M van de Locht, D Ronchi… - Science Translational …, 2024 - science.org
Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-
fast (TNNI2) and TnI-slow (TNNI1), are predominantly expressed in fast-and slow-twitch …

Disruption of Z-disc function promotes mechanical dysfunction in human myocardium: evidence for a dual myofilament modulatory role by alpha-actinin 2

M Rodriguez Garcia, J Schmeckpeper… - International Journal of …, 2023 - mdpi.com
The ACTN2 gene encodes α-actinin 2, located in the Z-disc of the sarcomeres in striated
muscle. In this study, we sought to investigate the effects of an ACTN2 missense variant of …