The role of the dystrophin glycoprotein complex on the neuromuscular system

DC Belhasan, M Akaaboune - Neuroscience letters, 2020 - Elsevier
Abstract The Dystrophin Glycoprotein Complex (DGC) is a large multi-protein complex that
links cytoskeleton actin to the extracellular matrix. This complex is critical in maintaining the …

From mice to humans: an overview of the potentials and limitations of current transgenic mouse models of major muscular dystrophies and congenital myopathies

M Sztretye, L Szabó, N Dobrosi, J Fodor… - International Journal of …, 2020 - mdpi.com
Muscular dystrophies are a group of more than 160 different human neuromuscular
disorders characterized by a progressive deterioration of muscle mass and strength. The …

Longitudinal metabolomic analysis of plasma enables modeling disease progression in Duchenne muscular dystrophy mouse models

R Tsonaka, M Signorelli, E Sabir, A Seyer… - Human Molecular …, 2020 - academic.oup.com
Duchenne muscular dystrophy is a severe pediatric neuromuscular disorder caused by the
lack of dystrophin. Identification of biomarkers is needed to support and accelerate drug …

Role of the Renin–Angiotensin–Aldosterone System in Dystrophin-Deficient Cardiomyopathy

M Rodriguez-Gonzalez, M Lubian-Gutierrez… - International Journal of …, 2020 - mdpi.com
Dystrophin-deficient cardiomyopathy (DDC) is currently the leading cause of death in
patients with dystrophinopathies. Targeting myocardial fibrosis (MF) has become a major …

Muscle twitch kinetics are dependent on muscle group, disease state, and age in Duchenne muscular dystrophy mouse models

KK Peczkowski, N Rastogi, J Lowe, KT Floyd… - Frontiers in …, 2020 - frontiersin.org
Duchenne muscular dystrophy (DMD) is an X-linked disorder caused by the lack of
functional dystrophin protein. In muscular dystrophy preclinical research, it is pertinent to …

“Betwixt Mine Eye and Heart a League Is Took”: the progress of induced pluripotent stem-cell-based models of dystrophin-associated cardiomyopathy

D Rovina, E Castiglioni, F Niro, S Mallia… - International journal of …, 2020 - mdpi.com
The ultimate goal of precision disease modeling is to artificially recreate the disease of
affected people in a highly controllable and adaptable external environment. This field has …

Étude longitudinale d'un modèle murin de dystonie progressive causée par un gain de fonction du récepteur bêta de l'acide rétinoïque

N Lemmetti - 2020 - papyrus.bib.umontreal.ca
Récemment, notre laboratoire a décrit plusieurs patients atteints d'une forme sévère et
progressive de dystonie présentant des mutations de novo dans le gène du récepteur bêta …