Ontology highlight
ABSTRACT:
SUBMITTER: Harandi VM
PROVIDER: S-EPMC7139799 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Harandi Vahid M VM Oliveira Bernardo Moreira Soares BMS Allamand Valérie V Friberg Ariana A Fontes-Oliveira Cibely C CC Durbeej Madeleine M
Antioxidants (Basel, Switzerland) 20200318 3
Congenital muscular dystrophy with laminin α2 chain-deficiency (LAMA2-CMD) is a severe neuromuscular disorder without a cure. Using transcriptome and proteome profiling as well as functional assays, we previously demonstrated significant metabolic impairment in skeletal muscle from LAMA2-CMD patients and mouse models. Reactive oxygen species (ROS) increase when oxygen homeostasis is not maintained and, here, we investigate whether oxidative stress indeed is involved in the pathogenesis of LAMA2- ...[more]